Centre for Paediatric Inherited and Rare Cardiovascular Disease

2025

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease.

Morgan C., Southgate L., Calder A., Sekar T., Constantine A., Quyam S., Trembath R., Moledina S.

International journal of cardiology, 2025

A prospective, multicenter, open-label, single-arm Phase 2 study to investigate the pharmacokinetics, safety, tolerability, and exploratory efficacy of selexipag in children with pulmonary arterial hypertension.

Beghetti M., Axelsen L., Borissoff J., Farhan M., Grill S., Leng S., Russu A., Lesage C., Remeňová T., Hsu Schmitz S., Moledina S.

Chest, 2025

Childhood-onset RASopathy-associated hypertrophic cardiomyopathy, diastolic dysfunction, and arrhythmias.

Boleti O., Roussos S., Monda E., Norrish G., Field E., Cervi E., Bakalakos A., Fernandes P., McLeod K., Ilina M., Khodaghalian B., Jones C., Escudero F., Castro F., Ali M., Bharucha T., Nepali G., Bhole V., Delle Donne G., Brown E., Gimeno J., Elliott P., Wolf C., Limongelli G., Kaski J.

European heart journal, 2025

Evaluation of infants born to a parent with gene-positive long QT syndrome: a retrospective single-centre review.

Lawley C., Khodaghalian B., French N., Oates S., Kaski J., Starling L.

Archives of disease in childhood. Fetal and neonatal edition, 2025

Characterisation and prognostic implications of the 12-lead electrocardiogram in children with RASopathy-associated hypertrophic cardiomyopathy.

Boleti O., Sunjaya A., Field E., Norrish G., Tollit J., Cervi E., Kaski J.

Heart (British Cardiac Society), 2025

Paediatric pulmonary arterial hypertension following congenital heart defect repair: Enhanced risk stratification and outcomes in a national cohort.

Constantine A., Dimopoulos K., Condliffe R., Clift P., Jansen K., Wort S., Chaplin G., Krishnathasan K., Dhillon R., Mookerjee J., Knight W., Jones C., Forte M., Wilson D., Michael H., Soto A., Labrandero C., Ogando A., Galdó A., Rodríguez I., Cuenca L., Perin F., Bonora A., Ramón M., Albert S., Riezu M., López J., Del Cerro Marín M., Moledina S.

European heart journal. Quality of care & clinical outcomes, 2025

Efficacy and Safety of Aficamten in Children and Adolescents With Obstructive Hypertrophic Cardiomyopathy: Study Design and Rationale of CEDAR-HCM.

Kaski J., Kantor P., Nakano S., Olivotto I., Russell M., Godown J., Chiu M., German P., Heitner S., Jacoby D., Kupfer S., Lutz J., Maharao N., Malik F., Melloni C., Nieto Morales P., Simkins T., Wei J., Ho C.

Circulation. Heart failure, 2025

Clinical care of family members of patients with dilated cardiomyopathy.

Verdonschot J., Kaski J., Asselbergs F., Behr E., Charron P., Dawson D., Haugaa K., Kuchynka P., Lopes L., Mazzanti A., Monserrat L., Pantazis A., Prasad S., Schunkert H., Seferovic P., Sheppard M., Sinagra G., van Tintelen J., Tome Esteban M., Heymans S., Garcia-Pavia P.

European heart journal, 2025

Key priorities for the implementation of the 2023 ESC Guidelines for the management of cardiomyopathies in low-resource settings.

Jurcut R., Barriales-Villa R., Biagini E., Garcia-Pavia P., Olivotto I., Protonotarios A., Arbustini E., Mogensen J., Elliott P., Arbelo E., Kaski J.

European heart journal. Quality of care & clinical outcomes, 2025

The Pulmonary Hypertension Global Patient Survey: understanding the experiences and perspectives of patients.

Newman J., Ghani H., Munagala S., Otter E., Fischer G., Kurzyna M., Meszaros G., Stone M., MacDonald L., Moledina S., Howard L., Gin-Sing W., Ferrari P., Beghetti M., Bunclark K., Toshner M., Granato M., Pepke-Zaba J.

ERJ open research, 2025

Infantile Hypertrophic cardiomyopathy: steps towards an evidence-based approach to genetic testing.

Norrish G., Kaski J.

Pediatric research, 2025

SOX17-silenced HPAECs upregulate NF-κB-induced CXCL10 and CXCL11: implications for lymphocyte chemotaxis in SOX17-PAH.

Mahomed A., Burke-Gaffney A., Moledina S., Toe Q., Shao D., Quinlan G., Rhodes C., Pease J., Wort S.

Scientific reports, 2025

Exploring Health-Related Quality of Life in Children With Pulmonary Hypertension.

Wray J., Quyam S., Clisby H., Kelly V., Moledina S.

Pulmonary circulation, 2025

Evaluating the relevance of the 2024 BSR systemic sclerosis guideline for juvenile systemic sclerosis.

Pain C., Lythgoe H., Willis E., Sampath S., Deepak S., Torok K., Duong P., Moledina S., Silva J., Pilkington C., Al-Abadi E., Denton C.

Rheumatology (Oxford, England), 2025

Hypertrophic cardiomyopathy.

Argirò A., Parikh V., Jurcut R., Finocchiaro G., Kaski J., Adler E., Olivotto I.

Nature reviews. Disease primers, 2025

Hypertrophic cardiomyopathy: prevalence of disease-specific red flags.

Maurizi N., Monda E., Biagini E., Field E., Passantino S., Dall' Aglio G., Fumagalli C., Antiochos P., Skalidis I., Pieroni M., Argirò A., Girolami F., Cecchi F., Barbey F., Monney P., Elliott P., Kaski J., Limongelli G., Olivotto I.

European heart journal, 2025

Sex Differences in Children and Adolescents With Hypertrophic Cardiomyopathy.

Norrish G., Hall K., Field E., Cervi E., Boleti O., Ziółkowska L., Olivotto I., Passantino S., Khraiche D., Limongelli G., Weintraub R., Anastasakis A., Biagini E., Ragni L., Sarquella-Brugada G., Cesar S., Prendiville T., McLeod K., Ilina M., Baban A., Ojala T., Spentzou G., Bhole V., Gran F., Brown E., Delle Donne G., Khodaghalian B., Fernandez A., Daubeney P., Linter K., Kubus P., Uzun O., Bökenkamp R., Raimondi F., Marrone C., Medrano C., Gonzalez-Lopez E., Siles A., Luczak-Wozniak K., Bharucha T., Adwani S., Klaassen S., Castro F., Guereta L., Yamazawa H., Sinagra G., Popoiu A., Perin F., Chana B., De Wilde H., Rasmussen T., Mogensen J., Mathur S., Centeno F., Reinhardt Z., Barriales-Villa R., Kubo T., Felice T., Radulescu C., Schouvey S., Chaker M., Kaski J.

JACC. Advances, 2025

Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy.

Sandmann C., Klaassen S., Kaski J., Norrish G.

Journal of medical genetics, 2025

Caring for children and young people with inherited cardiac conditions: the evolving role of specialist nurses.

Tollit J., Oates S., Odori A., Smyth S., Kaski J., Field E.

Nursing children and young people, 2025

Porto-Pulmonary Hypertension in Children: Insights From a National Registry.

Quyam S., Baker A., Calder A., Moledina S.

Pulmonary circulation, 2025

Pulmonary Hypertension Global Patient Survey: A Call to Action 2025.

Pulmonary circulation, 2025

Potential impact of long-term ambulatory electrocardiographic monitoring on estimated sudden cardiac death risk in childhood hypertrophic cardiomyopathy.

Norrish G., Field E., Cervi E., Kaski J.

Heart rhythm, 2025

Enhancing Drug Development for Paediatric Pulmonary Hypertension-An Integrative Perspective.

Abman S., Nikkho S., Berger R., Del Cerro M., Austin E., Beghetti M., Ivy D., Griffiths M., Hilgendorff A., Kawut S., Krishnan U., Mullen M., Moledina S., Thébaud B., Stockbridge N.

Pulmonary circulation, 2025

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

Tsatsopoulou A., Abrams D., Anastasakis A., Antoniades L., Arbelo E., Arbustini E., Ashley E., Asimaki A., Basso C., Bossone E., Cadrin-Turigny J., Calkins H., Carbone A., Elliott P., Efthimiadis G., Franzese M., Frogoudaki A., Gimeno J., McGrath J., Ingles J., Kaski J., Keren A., Kohiadakis G., Lazarou E., Lazaros G., Lerakis S., Limongelli G., Meditskou S., Mestroni L., Metaxa I., Monda E., Papatheodorou E., Parharidou D., Patrianakos A., Pilichou K., Protonotarios A., Protonotarios I., Rega S., Rigopoulos A., Saffitz J., Syrris P., Taylor M., Peter van Tintelen J., Vlachopoulos C., Xylouri Z., McKenna W.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese, 2025

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular Risk Collaboration, and the European Association of Preventive Cardiology.

Schunkert H., Di Angelantonio E., Inouye M., Patel R., Ripatti S., Widen E., Sanderson S., Kaski J., McEvoy J., Vardas P., Wood A., Aboyans V., Vassiliou V., Visseren F., Lopes L., Elliott P., Kavousi M.

European heart journal, 2025

Hypertrophic cardiomyopathy and atrial fibrillation: the Cardiomyopathy/Myocarditis Registry of the EURObservational Research Programme of the European Society of Cardiology.

Mizia-Stec K., Gimeno J., Charron P., Elliott P., Kaski J., Maggioni A., Tendera M., Tavazzi L., Wybraniec M., Laroche C., Caforio A.

Open heart, 2025

Predicting Peri-Operative Cardiorespiratory Adverse Events in Children with Idiopathic Pulmonary Arterial Hypertension Undergoing Cardiac Catheterization Using Echocardiography: A Cohort Study.

Dawes T., Woodham V., Sharkey E., McEwan A., Derrick G., Muthurangu V., Moledina S., Hepburn L.

Pediatric cardiology, 2025

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.

Wolf C., Zenker M., Boleti O., Norrish G., Russell M., Meisner J., Peng D., Prendiville T., Kleinmahon J., Kantor P., Gottlieb Sen D., Human D., Ewert P., Krueger M., Reber D., Donner B., Hart C., Odri Komazec I., Rupp S., Hahn A., Hanser A., Hofbeck M., Draaisma J., Udink Ten Cate F., Mussa A., Ferrero G., Vaujois L., Raboisson M., Delrue M., Marquis C., Théoret Y., Bogarapu S., Dancea A., Handrup M., Kemna M., Ojala T., Dham N., Dicke F., Friede T., Kaski J., Gelb B., Andelfinger G.

JACC. Basic to translational science, 2025

Naxos Disease and Related Cardio-Cutaneous Syndromes.

Protonotarios A., Asimaki A., Basso C., Xylouri Z., Monda E., Protonotarios I., Crisci G., Abrahms D., Anastasakis A., Antoniades L., Bakalakos A., Carbone A., S Coonar A., Gimeno J., Lazaros G., Lerakis S., Mestroni L., Papadopoulos G., Pecchia L., Prandi F., Syrris P., Cadrin-Turigny J., Vasilakis A., Saffitz J., Gaetano Thiene S., Elliott P., Kaski J., McKenna W., Bossone E., Limongelli G., Tsatsopoulou A.

JACC. Advances, 2025

How to assess sudden cardiac death risk in hypertrophic cardiomyopathy? Current challenges and future directions.

Norrish G., Niemiec M., Kaski J., Mizia-Stec K.

Kardiologia polska, 2025

Challenges in Cardiomyopathy Gene Therapy Clinical Trial Design.

Satish T., Hong K., Kaski J., Greenberg B.

JACC. Heart failure, 2025

Imaging based risk factors for heart failure death in childhood dilated cardiomyopathy: a systematic review and meta-analysis.

Street-de Palma C., Lim Z., Field E., Kaski J., Norrish G.

Frontiers in cardiovascular medicine, 2025

2024

Safety, tolerability, and efficacy of an in-class combination therapy switch from bosentan plus sildenafil to ambrisentan plus tadalafil in children with pulmonary arterial hypertension.

Morgan C., Idris N., Elterefi K., Di Ienno L., Constantine A., Quyam S., Bini R., Moledina S.

Pulmonary circulation, 2024

Utility and acceptability of remote 6-lead electrocardiographic monitoring in children with inherited cardiac conditions.

Lawley C., Luczak-Wozniak K., Chung S., Field E., Barnes A., Starling L., Cervi E., Kaski J.

Archives of disease in childhood, 2024

Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis: A Systematic Review and Meta-Analysis.

Monda E., Bakalakos A., Cannie D., O'Mahony C., Syrris P., Kaski J., Limongelli G., Elliott P.

JACC. Heart failure, 2024

Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.

Captur G., Doykov I., Chung S., Field E., Barnes A., Zhang E., Heenan I., Norrish G., Moon J., Elliott P., Heywood W., Mills K., Kaski J.

Circulation. Genomic and precision medicine, 2024

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.

Kaski J., Norrish G., Gimeno Blanes J., Charron P., Elliott P., Tavazzi L., Tendera M., Laroche C., Maggioni A., Baban A., Khraiche D., Ziolkowska L., Limongelli G., Ojala T., Gorenflo M., Anastasakis A., Mostafa S., Caforio A.

European heart journal, 2024

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants.

Norrish G., Gasparini M., Field E., Cervi E., Kaski J.

Journal of medical genetics, 2024

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.

Boleti O., Norrish G., Field E., Dady K., Summers K., Nepali G., Bhole V., Uzun O., Wong A., Daubeney P., Stuart G., Fernandes P., McLeod K., Ilina M., Ali M., Bharucha T., Donne G., Brown E., Linter K., Jones C., Searle J., Regan W., Mathur S., Boyd N., Reinhardt Z., Duignan S., Prendiville T., Adwani S., Kaski J.

ESC heart failure, 2024

The 2023 ESC guidelines for the management of cardiomyopathies: the 10 commandments.

Kaski J., Arbelo E.

European heart journal, 2024

Biallelic

Gibb J., Wall E., Fields E., Seale A., Armstrong C., Bamber A., Daubeney P., Jacobs-Pearson M., Marton T., Stals K., Low K., Kaski J., Spentzou G.

Journal of medical genetics, 2024

Corrigendum to 'Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management' [International Journal of Cardiology, 2023, 41:180-186].

Brignole M., Cecchi F., Anastasakis A., Crotti L., Deharo J., Elliott P., Fedorowski A., Kaski J., Limongelli G., Maron M., Olivotto I., Ommen S., Parati G., Shen W., Ungar A., Wilde A.

International journal of cardiology, 2024

2023

Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.

Boleti O., Roussos S., Norrish G., Field E., Oates S., Tollit J., Nepali G., Bhole V., Uzun O., Daubeney P., Stuart G., Fernandes P., McLeod K., Ilina M., Liaqath M., Bharucha T., Delle Donne G., Brown E., Linter K., Khodaghalian B., Jones C., Searle J., Mathur S., Boyd N., Reindhardt Z., Duignan S., Prendiville T., Adwani S., Zenker M., Wolf C., Kaski J.

International journal of cardiology, 2023

Performance of the PRIMaCY sudden death risk prediction model for childhood hypertrophic cardiomyopathy: implications for implantable cardioverter-defibrillator decision-making.

Norrish G., Protonotarios A., Stec M., Boleti O., Field E., Cervi E., Elliott P., Kaski J.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 2023

Family Screening in Gene-Elusive Hypertrophic Cardiomyopathy: Time for a Change or Should We Tread Cautiously?

Kaski J., Norrish G.

Journal of the American College of Cardiology, 2023

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.

Hong K., Eshraghian E., Arad M., Argirò A., Brambatti M., Bui Q., Caspi O., de Frutos F., Greenberg B., Ho C., Kaski J., Olivotto I., Taylor M., Yesso A., Garcia-Pavia P., Adler E.

Journal of the American College of Cardiology, 2023

Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease.

Norrish G., Kadirrajah V., Field E., Dady K., Tollit J., McLeod K., McGowan R., Cervi E., Kaski J.

Circulation. Genomic and precision medicine, 2023

Innate immune signaling in hearts and buccal mucosa cells of patients with arrhythmogenic cardiomyopathy.

Bueno-Beti C., Tafuni A., Chelko S., Sheppard M., Field E., Tollit J., Heenan I., Barnes A., Taylor M., Mestroni L., Kaski J., Saffitz J., Asimaki A.

Heart rhythm O2, 2023

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.

Monda E., Prosnitz A., Aiello R., Lioncino M., Norrish G., Caiazza M., Drago F., Beattie M., Tartaglia M., Russo M., Colan S., Calcagni G., Gelb B., Kaski J., Roberts A., Limongelli G.

Circulation. Genomic and precision medicine, 2023

Clinical Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives: Who, When, and How?

Kaski J., Cannie D.

Journal of the American College of Cardiology, 2023

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy.

Kaski J., Kammeraad J., Blom N., Happonen J., Janousek J., Klaassen S., Limongelli G., Östman-Smith I., Sarquella Brugada G., Ziolkowska L.

Cardiology in the young, 2023

Clinical and Genetic Screening for Hypertrophic Cardiomyopathy in Paediatric Relatives: Changing Paradigms in Clinical Practice.

Lawley C., Kaski J.

Journal of clinical medicine, 2023

Prognostic Value of Transthoracic Echocardiography in Children With Pulmonary Arterial Hypertension.

Lammers A., Marek J., Diller G., Haworth S., Moledina S.

Journal of the American Heart Association, 2023

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

Dimopoulos K., Constantine A., Clift P., Condliffe R., Moledina S., Jansen K., Inuzuka R., Veldtman G., Cua C., Tay E., Opotowsky A., Giannakoulas G., Alonso-Gonzalez R., Cordina R., Capone G., Namuyonga J., Scott C., D'Alto M., Gamero F., Chicoine B., Gu H., Limsuwan A., Majekodunmi T., Budts W., Coghlan G., Broberg C.

Circulation, 2023

Disopyramide is a safe and effective treatment for children with obstructive hypertrophic cardiomyopathy.

Topriceanu C., Field E., Boleti O., Cervi E., Kaski J., Norrish G.

International journal of cardiology, 2023

Genetic Insights from Consanguineous Cardiomyopathy Families.

Maurer C., Boleti O., Najarzadeh Torbati P., Norouzi F., Fowler A., Minaee S., Salih K., Taherpour M., Birjandi H., Alizadeh B., Salih A., Bijari M., Houlden H., Pittman A., Maroofian R., Almashham Y., Karimiani E., Kaski J., Faqeih E., Vakilian F., Jamshidi Y.

Genes, 2023

Editorial: Cardiovascular genetics-focus on paediatric cardiomyopathy.

Monda E., Kaski J., Limongelli G.

Frontiers in pediatrics, 2023

Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management.

Brignole M., Cecchi F., Anastasakis A., Crotti L., Deharo J., Elliott P., Fedorowski A., Kaski J., Limongelli G., Maron M., Olivotto I., Ommen S., Parati G., Shen W., Ungar A., Wilde A.

International journal of cardiology, 2023

2022

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

Prapa M., Lago-Docampo M., Swietlik E., Montani D., Eyries M., Humbert M., Welch C., Chung W., Berger R., Bogaard H., Danhaive O., Escribano-Subías P., Gall H., Girerd B., Hernandez-Gonzalez I., Holden S., Hunt D., Jansen S., Kerstjens-Frederikse W., Kiely D., Lapunzina P., McDermott J., Moledina S., Pepke-Zaba J., Polwarth G., Schotte G., Tenorio-Castaño J., Thompson A., Wharton J., Wort S., Megy K., Mapeta R., Treacy C., Martin J., Li W., Swift A., Upton P., Morrell N., Gräf S., Valverde D.

American journal of respiratory and critical care medicine, 2022

The heart in RASopathies.

Delogu A., Limongelli G., Versacci P., Adorisio R., Kaski J., Blandino R., Maiolo S., Monda E., Putotto C., De Rosa G., Chatfield K., Gelb B., Calcagni G.

American journal of medical genetics. Part C, Seminars in medical genetics, 2022

Arrhythmogenic cardiomyopathies in children: seek and you shall find.

Kaski J.

European heart journal, 2022

Diagnosis and management of pulmonary hypertension in infants with bronchopulmonary dysplasia: a guide for paediatric respiratory specialists.

Chan S., Brugha R., Quyam S., Moledina S.

Breathe (Sheffield, England), 2022

Paediatric cardiology - Not just small hearts in small bodies!: An editorial by the section editor of the new section on pediatric cardiology.

Kaski J.

International journal of cardiology, 2022

Presentation of cardiogenic shock with pulmonary hypertension and arrhythmia secondary to foramen magnum stenosis in a patient with achondroplasia.

Gavela J., Sharma S., Thompson D., Cocca A., Thiruchelvam T., Moledina S.

Journal of paediatrics and child health, 2022

Twenty-Year Experience and Outcomes in a National Pediatric Pulmonary Hypertension Service.

Constantine A., Dimopoulos K., Haworth S., Muthurangu V., Moledina S.

American journal of respiratory and critical care medicine, 2022

Lessons from rare cardiomyopathies: The importance of a phenotype-based approach to arrive at a specific diagnosis.

Kaski J.

International journal of cardiology, 2022

Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.

Field E., Norrish G., Acquaah V., Dady K., Cicerchia M., Ochoa J., Syrris P., McLeod K., McGowan R., Fell H., Lopes L., Cervi E., Kaski J.

Journal of medical genetics, 2022

Early Childhood-Onset Hypertrophic Cardiomyopathy in a Family With an In-Frame

Field E., Lopes L., Dady K., Kaski J.

Circulation. Genomic and precision medicine, 2022

Riociguat in children with pulmonary arterial hypertension: The PATENT-CHILD study.

García Aguilar H., Gorenflo M., Ivy D., Moledina S., Castaldi B., Ishida H., Cześniewicz P., Kusa J., Miera O., Pattathu J., Weng K., Ablonczy L., Apitz C., Katona M., Kurosaki K., Pulido T., Yamagishi H., Yasuda K., Cisternas G., Goth M., Lippert S., Radomskyj A., Saleh S., Willmann S., Wirsching G., Bonnet D., Beghetti M.

Pulmonary circulation, 2022

Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.

Brunet-Garcia L., Ja J., Field E., Norrish G., Tollit J., Shoshan J., French N., Addis A., Dady K., Cervi E., Starling L., Kaski J.

Pediatric cardiology, 2022

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.

Norrish G., Cleary A., Field E., Cervi E., Boleti O., Ziółkowska L., Olivotto I., Khraiche D., Limongelli G., Anastasakis A., Weintraub R., Biagini E., Ragni L., Prendiville T., Duignan S., McLeod K., Ilina M., Fernandez A., Marrone C., Bökenkamp R., Baban A., Kubus P., Daubeney P., Sarquella-Brugada G., Cesar S., Klaassen S., Ojala T., Bhole V., Medrano C., Uzun O., Brown E., Gran F., Sinagra G., Castro F., Stuart G., Yamazawa H., Barriales-Villa R., Garcia-Guereta L., Adwani S., Linter K., Bharucha T., Gonzales-Lopez E., Siles A., Rasmussen T., Calcagnino M., Jones C., De Wilde H., Kubo T., Felice T., Popoiu A., Mogensen J., Mathur S., Centeno F., Reinhardt Z., Schouvey S., Elliott P., Kaski J.

Journal of the American College of Cardiology, 2022

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

Arbustini E., Behr E., Carrier L., van Duijn C., Evans P., Favalli V., van der Harst P., Haugaa K., Jondeau G., Kääb S., Kaski J., Kavousi M., Loeys B., Pantazis A., Pinto Y., Schunkert H., Di Toro A., Thum T., Urtis M., Waltenberger J., Elliott P.

European heart journal, 2022

Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study.

Norrish G., Rance T., Montanes E., Field E., Brown E., Bhole V., Stuart G., Uzun O., McLeod K., Ilina M., Adwani S., Daubeney P., Delle Donne G., Linter K., Jones C., Bharucha T., Cervi E., Kaski J.

Archives of disease in childhood, 2022

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Norrish G., Ding T., Field E., Cervi E., Ziółkowska L., Olivotto I., Khraiche D., Limongelli G., Anastasakis A., Weintraub R., Biagini E., Ragni L., Prendiville T., Duignan S., McLeod K., Ilina M., Fernández A., Marrone C., Bökenkamp R., Baban A., Kubus P., Daubeney P., Sarquella-Brugada G., Cesar S., Klaassen S., Ojala T., Bhole V., Medrano C., Uzun O., Brown E., Gran F., Sinagra G., Castro F., Stuart G., Vignati G., Yamazawa H., Barriales-Villa R., Garcia-Guereta L., Adwani S., Linter K., Bharucha T., Garcia-Pavia P., Siles A., Rasmussen T., Calcagnino M., Jones C., De Wilde H., Kubo T., Felice T., Popoiu A., Mogensen J., Mathur S., Centeno F., Reinhardt Z., Schouvey S., O'Mahony C., Omar R., Elliott P., Kaski J.

Circulation. Arrhythmia and electrophysiology, 2022

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.

Norrish G., Qu C., Field E., Cervi E., Khraiche D., Klaassen S., Ojala T., Sinagra G., Yamazawa H., Marrone C., Popoiu A., Centeno F., Schouvey S., Olivotto I., Day S., Colan S., Rossano J., Wittekind S., Saberi S., Russell M., Helms A., Ingles J., Semsarian C., Elliott P., Ho C., Omar R., Kaski J.

European journal of preventive cardiology, 2022

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.

Norrish G., Topriceanu C., Qu C., Field E., Walsh H., Ziółkowska L., Olivotto I., Passantino S., Favilli S., Anastasakis A., Vlagkouli V., Weintraub R., King I., Biagini E., Ragni L., Prendiville T., Duignan S., McLeod K., Ilina M., Fernández A., Bökenkamp R., Baban A., Drago F., Kubuš P., Daubeney P., Chivers S., Sarquella-Brugada G., Cesar S., Marrone C., Medrano C., Alvarez Garcia-Roves R., Uzun O., Gran F., Castro F., Gimeno J., Barriales-Villa R., Rueda F., Adwani S., Searle J., Bharucha T., Siles A., Usano A., Rasmussen T., Jones C., Kubo T., Mogensen J., Reinhardt Z., Cervi E., Elliott P., Omar R., Kaski J.

European journal of preventive cardiology, 2022

Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?

Brunet-Garcia L., Odori A., Fell H., Field E., Roberts A., Starling L., Kaski J., Cervi E.

JACC. Case reports, 2022

Analysis of buccal mucosa as a prognostic tool in children with arrhythmogenic cardiomyopathy.

Bueno-Beti C., Field E., Tsatsopoulou A., Perry G., Sheppard M., Behr E., Saffitz J., Kaski J., Asimaki A.

Progress in pediatric cardiology, 2022

Cardiovascular safety of growth hormone treatment in Noonan syndrome: real-world evidence.

Romano A., Kaski J., Dahlgren J., Kelepouris N., Pietropoli A., Rohrer T., Polak M.

Endocrine connections, 2022

The Risk of Sudden Death in Children with Hypertrophic Cardiomyopathy.

Norrish G., Kaski J.

Heart failure clinics, 2022

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

Brunet Garcia L., Hajra A., Field E., Wacher J., Walsh H., Norrish G., Manzur A., Muntoni F., Munot P., Robb S., Quinlivan R., Scoto M., Baranello G., Sarkozy A., Starling L., Kaski J., Cervi E.

Frontiers in pediatrics, 2022

2021

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

Norrish G., Kolt G., Cervi E., Field E., Dady K., Ziółkowska L., Olivotto I., Favilli S., Passantino S., Limongelli G., Caiazza M., Rubino M., Baban A., Drago F., Mcleod K., Ilina M., McGowan R., Stuart G., Bhole V., Uzun O., Wong A., Lazarou L., Brown E., Daubeney P., Lota A., Delle Donne G., Linter K., Mathur S., Bharucha T., Adwani S., Searle J., Popoiu A., Jones C., Reinhardt Z., Kaski J.

ESC heart failure, 2021

Pulmonary arterial hypertension in adults with congenital heart disease: markers of disease severity, management of advanced heart failure and transplantation.

Jansen K., Constantine A., Condliffe R., Tulloh R., Clift P., Moledina S., Wort S., Dimopoulos K.

Expert review of cardiovascular therapy, 2021

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Zhou J., Azizan E., Cabrera C., Fernandes-Rosa F., Boulkroun S., Argentesi G., Cottrell E., Amar L., Wu X., O'Toole S., Goodchild E., Marker A., Senanayake R., Garg S., Åkerström T., Backman S., Jordan S., Polubothu S., Berney D., Gluck A., Lines K., Thakker R., Tuthill A., Joyce C., Kaski J., Karet Frankl F., Metherell L., Teo A., Gurnell M., Parvanta L., Drake W., Wozniak E., Klinzing D., Kuan J., Tiang Z., Gomez Sanchez C., Hellman P., Foo R., Mein C., Kinsler V., Björklund P., Storr H., Zennaro M., Brown M.

Nature genetics, 2021

Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry.

Mizia-Stec K., Charron P., Gimeno Blanes J., Elliott P., Kaski J., Maggioni A., Tavazzi L., Tendera M., Felix S., Dominguez F., Ojrzynska N., Losi M., Limongelli G., Barriales-Villa R., Seferovic P., Biagini E., Wybraniec M., Laroche C., Caforio A.

European heart journal. Cardiovascular Imaging, 2021

Childhood-onset hypertrophic cardiomyopathy research coming of age.

Kaski J.

European heart journal, 2021

Clinical outcomes and programming strategies of implantable cardioverter-defibrillator devices in paediatric hypertrophic cardiomyopathy: a UK National Cohort Study.

Norrish G., Chubb H., Field E., McLeod K., Ilina M., Spentzou G., Till J., Daubeney P., Stuart A., Matthews J., Hares D., Brown E., Linter K., Bhole V., Pillai K., Bowes M., Jones C., Uzun O., Wong A., Yue A., Sadagopan S., Bharucha T., Yap N., Rosenthal E., Mathur S., Adwani S., Reinhardt Z., Mangat J., Kaski J.

Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry.

Asselbergs F., Sammani A., Elliott P., Gimeno J., Tavazzi L., Tendera M., Kaski J., Maggioni A., Rubis P., Jurcut R., Heliö T., Calò L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliūnienė A., Laroche C., Caforio A., Charron P.

ESC heart failure, 2021

Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere.

Norrish G., Field E., Kaski J.

Frontiers in pediatrics, 2021

Editorial: Paediatric Cardiomyopathies.

Monda E., Kaski J., Limongelli G.

Frontiers in pediatrics, 2021

Clinical significance of inferolateral early repolarisation and late potentials in children with Brugada Syndrome.

Lopez-Blazquez M., Field E., Tollit J., Walsh H., Addis A., French N., Starling L., Kaski J.

Journal of electrocardiology, 2021

Practice patterns of pulmonary hypertension secondary to left heart disease among pediatric pulmonary hypertension providers.

Nawaytou H., Fineman J., Moledina S., Ivy D., Abman S., Cerro M.

Pulmonary circulation, 2021

2020

Bayesian Inference Associates Rare

Swietlik E., Greene D., Zhu N., Megy K., Cogliano M., Rajaram S., Pandya D., Tilly T., Lutz K., Welch C., Pauciulo M., Southgate L., Martin J., Treacy C., Penkett C., Stephens J., Bogaard H., Church C., Coghlan G., Coleman A., Condliffe R., Eichstaedt C., Eyries M., Gall H., Ghio S., Girerd B., Grünig E., Holden S., Howard L., Humbert M., Kiely D., Kovacs G., Lordan J., Machado R., Mackenzie Ross R., McCabe C., Moledina S., Montani D., Olschewski H., Pepke-Zaba J., Price L., Rhodes C., Seeger W., Soubrier F., Suntharalingam J., Toshner M., Vonk Noordegraaf A., Wharton J., Wild J., Wort S., Lawrie A., Wilkins M., Trembath R., Shen Y., Chung W., Swift A., Nichols W., Morrell N., Gräf S.

Circulation. Genomic and precision medicine, 2020

Atrial fibrillation, anticoagulation management and risk of stroke in the Cardiomyopathy/Myocarditis registry of the EURObservational Research Programme of the European Society of Cardiology.

Mizia-Stec K., Caforio A., Charron P., Gimeno J., Elliott P., Kaski J., Maggioni A., Tavazzi L., Rigopoulos A., Laroche C., Frigy A., Zachara E., Pena-Pena M., Olusegun-Joseph A., Pinto Y., Sala S., Drago F., Blagova O., Reznik E., Tendera M.

ESC heart failure, 2020

Pulmonary Vasodilator Therapy in Children with Single Ventricle Physiology: Effects on Saturation and Pulmonary Arterial Pressure.

Jeremiasen I., Tran-Lundmark K., Idris N., Tran P., Moledina S.

Pediatric cardiology, 2020

ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.

Heliö T., Elliott P., Koskenvuo J., Gimeno J., Tavazzi L., Tendera M., Kaski J., Mansencal N., Bilińska Z., Carr-White G., Damy T., Frustaci A., Kindermann I., Ripoll-Vera T., Čelutkienė J., Axelsson A., Lorenzini M., Saad A., Maggioni A., Laroche C., Caforio A., Charron P.

ESC heart failure, 2020

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

Lorenzini M., Norrish G., Field E., Ochoa J., Cicerchia M., Akhtar M., Syrris P., Lopes L., Kaski J., Elliott P.

Journal of the American College of Cardiology, 2020

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Lopez-Sainz A., Dominguez F., Lopes L., Ochoa J., Barriales-Villa R., Climent V., Linschoten M., Tiron C., Chiriatti C., Marques N., Rasmussen T., Espinosa M., Beinart R., Quarta G., Cesar S., Field E., Garcia-Pinilla J., Bilinska Z., Muir A., Roberts A., Santas E., Zorio E., Peña-Peña M., Navarro M., Fernandez A., Palomino-Doza J., Azevedo O., Lorenzini M., García-Álvarez M., Bento D., Jensen M., Méndez I., Pezzoli L., Sarquella-Brugada G., Campuzano O., Gonzalez-Lopez E., Mogensen J., Kaski J., Arad M., Brugada R., Asselbergs F., Monserrat L., Olivotto I., Elliott P., Garcia-Pavia P.

Journal of the American College of Cardiology, 2020

Multidisciplinary evaluation and management of obstructive hypertrophic cardiomyopathy in 2020: Towards the HCM Heart Team.

Pelliccia F., Alfieri O., Calabrò P., Cecchi F., Ferrazzi P., Gragnano F., Kaski J., Limongelli G., Maron M., Rapezzi C., Seggewiss H., Yacoub M., Olivotto I.

International journal of cardiology, 2020

Repair of isolated atrial septal defect in infants less than 12 months improves symptoms of chronic lung disease or shunt-related pulmonary hypertension.

Charisopoulou D., Bini R., Riley G., Janagarajan K., Moledina S., Marek J.

Cardiology in the young, 2020

Carotid intima media thickness in older children and adolescents with HIV taking antiretroviral therapy.

Majonga E., Chiesa S., McHugh G., Mujuru H., Nathoo K., Odland J., Kaski J., Ferrand R.

Medicine, 2020

Incidence and Progression of Echocardiographic Abnormalities in Older Children with Human Immunodeficiency Virus and Adolescents Taking Antiretroviral Therapy: A Prospective Cohort Study.

Majonga E., Rehman A., Mchugh G., Mujuru H., Nathoo K., Odland J., Ferrand R., Kaski J.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 2020

Resident inflammatory cells in the myocardium of children: On the way to set histologic reference standards to differentiate normal myocardium from myocarditis.

Ammirati E., Kaski J.

International journal of cardiology, 2020

Characterization of

Hodgson J., Swietlik E., Salmon R., Hadinnapola C., Nikolic I., Wharton J., Guo J., Liley J., Haimel M., Bleda M., Southgate L., Machado R., Martin J., Treacy C., Yates K., Daugherty L., Shamardina O., Whitehorn D., Holden S., Bogaard H., Church C., Coghlan G., Condliffe R., Corris P., Danesino C., Eyries M., Gall H., Ghio S., Ghofrani H., Gibbs J., Girerd B., Houweling A., Howard L., Humbert M., Kiely D., Kovacs G., Lawrie A., MacKenzie Ross R., Moledina S., Montani D., Olschewski A., Olschewski H., Ouwehand W., Peacock A., Pepke-Zaba J., Prokopenko I., Rhodes C., Scelsi L., Seeger W., Soubrier F., Suntharalingam J., Toshner M., Trembath R., Vonk Noordegraaf A., Wort S., Wilkins M., Yu P., Li W., Gräf S., Upton P., Morrell N.

American journal of respiratory and critical care medicine, 2020

Concerns About the HCM Risk-Kids Study-Reply.

Norrish G., Elliott P., Kaski J.

JAMA cardiology, 2020

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Roberts J., Asaki S., Mazzanti A., Bos J., Tuleta I., Muir A., Crotti L., Krahn A., Kutyifa V., Shoemaker M., Johnsrude C., Aiba T., Marcondes L., Baban A., Udupa S., Dechert B., Fischbach P., Knight L., Vittinghoff E., Kukavica D., Stallmeyer B., Giudicessi J., Spazzolini C., Shimamoto K., Tadros R., Cadrin-Tourigny J., Duff H., Simpson C., Roston T., Wijeyeratne Y., El Hajjaji I., Yousif M., Gula L., Leong-Sit P., Chavali N., Landstrom A., Marcus G., Dittmann S., Wilde A., Behr E., Tfelt-Hansen J., Scheinman M., Perez M., Kaski J., Gow R., Drago F., Aziz P., Abrams D., Gollob M., Skinner J., Shimizu W., Kaufman E., Roden D., Zareba W., Schwartz P., Schulze-Bahr E., Etheridge S., Priori S., Ackerman M.

Circulation, 2020

2019

Recommendations from the Association for European Paediatric and Congenital Cardiology for training in pulmonary hypertension.

Sallmon H., Moledina S., Albert D., Beghetti M., Berger R., Bonnet D., Bukova M., Koestenberger M., Meinel K., Reinhardt Z., Tulloh R., de Wolf D., Hansmann G.

Cardiology in the young, 2019

A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy.

Norrish G., Ding T., Field E., McLeod K., Ilina M., Stuart G., Bhole V., Uzun O., Brown E., Daubeney P., Lota A., Linter K., Mathur S., Bharucha T., Kok K., Adwani S., Jones C., Reinhardt Z., Omar R., Kaski J.

Treatment of pediatric pulmonary arterial hypertension: A focus on the NO-sGC-cGMP pathway.

Beghetti M., Gorenflo M., Ivy D., Moledina S., Bonnet D.

Pediatric pulmonology, 2019

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Crotti L., Spazzolini C., Tester D., Ghidoni A., Baruteau A., Beckmann B., Behr E., Bennett J., Bezzina C., Bhuiyan Z., Celiker A., Cerrone M., Dagradi F., De Ferrari G., Etheridge S., Fatah M., Garcia-Pavia P., Al-Ghamdi S., Hamilton R., Al-Hassnan Z., Horie M., Jimenez-Jaimez J., Kanter R., Kaski J., Kotta M., Lahrouchi N., Makita N., Norrish G., Odland H., Ohno S., Papagiannis J., Parati G., Sekarski N., Tveten K., Vatta M., Webster G., Wilde A., Wojciak J., George A., Ackerman M., Schwartz P.

European heart journal, 2019

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).

Norrish G., Ding T., Field E., Ziólkowska L., Olivotto I., Limongelli G., Anastasakis A., Weintraub R., Biagini E., Ragni L., Prendiville T., Duignan S., McLeod K., Ilina M., Fernández A., Bökenkamp R., Baban A., Kubuš P., Daubeney P., Sarquella-Brugada G., Cesar S., Marrone C., Bhole V., Medrano C., Uzun O., Brown E., Gran F., Castro F., Stuart G., Vignati G., Barriales-Villa R., Guereta L., Adwani S., Linter K., Bharucha T., Garcia-Pavia P., Rasmussen T., Calcagnino M., Jones C., De Wilde H., Toru-Kubo J., Felice T., Mogensen J., Mathur S., Reinhardt Z., O'Mahony C., Elliott P., Omar R., Kaski J.

JAMA cardiology, 2019

Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report.

Dolader P., Field E., Sarkozy A., Kaski J.

European heart journal. Case reports, 2019

Pharmacology of the single isomer, esuberaprost (beraprost-314d) on pulmonary vascular tone, IP receptors and human smooth muscle proliferation in pulmonary hypertension.

Shen L., Patel J., Norel X., Moledina S., Whittle B., von Kessler K., Sista P., Clapp L.

Biochemical pharmacology, 2019

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G., Jager J., Field E., Quinn E., Fell H., Lord E., Cicerchia M., Ochoa J., Cervi E., Elliott P., Kaski J.

Circulation, 2019

EXPRESS: Acute Vasoreactivity Testing in Pediatric Idiopathic Pulmonary Arterial Hypertension: an international Survey on Current Practice.

Caicedo L., Hopper R., Garcia H., Ivy D., Haag D., Fineman J., Humpi T., Al-Tamimi O., Feinstein J., Berger R., Berman-Rosenzweig E., Kashour T., Diaz G., Mendoza A., Bobhate P., Handler S., Lopes A., Barwad P., Kumar Rahit M., Krishnan U., Adatia I., Moledina S., Abman S., Cerro Marin M.

Pulmonary circulation, 2019

Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.

Frontera A., Vlachos K., Kitamura T., Mahida S., Pillois X., Fahy G., Marquie C., Cappato R., Stuart G., Defaye P., Kaski J., Ector J., Maltret A., Scanu P., Pasquie J., Deisenhofer I., Blankoff I., Scherr D., Manninger M., Aizawa Y., Koutbi L., Denis A., Pambrun T., Ritter P., Sacher F., Hocini M., Maury P., Jaïs P., Bordachar P., Haïssaguerre M., Derval N.

Journal of the American Heart Association, 2019

Outcomes following general anaesthesia in children with hypertrophic cardiomyopathy.

Norrish G., Forshaw N., Woo C., Avanis M., Field E., Cervi E., Iguchi A., Kaski J.

Archives of disease in childhood, 2019

Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.

Sofianopoulou E., Kaptoge S., Gräf S., Hadinnapola C., Treacy C., Church C., Coghlan G., Gibbs J., Haimel M., Howard L., Johnson M., Kiely D., Lawrie A., Lordan J., MacKenzie Ross R., Martin J., Moledina S., Newnham M., Peacock A., Price L., Rhodes C., Suntharalingam J., Swietlik E., Toshner M., Wharton J., Wilkins M., Wort S., Pepke-Zaba J., Condliffe R., Corris P., Di Angelantonio E., Provencher S., Morrell N.

The European respiratory journal, 2019

Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom.

Norrish G., Field E., Mcleod K., Ilina M., Stuart G., Bhole V., Uzun O., Brown E., Daubeney P., Lota A., Linter K., Mathur S., Bharucha T., Kok K., Adwani S., Jones C., Reinhardt Z., Kaski J.

European heart journal, 2019

EXPRESS: Statement on imaging and pulmonary hypertension from the Pulmonary Vascular Research Institute (PVRI).

Kiely D., Levin D., Hassoun P., Ivy D., Jone P., Bwika J., Kawut S., Lordan J., Lungu A., Mazurek J., Moledina S., Olschewski H., Peacock A., Puri G., Rahaghi F., Schafer M., Schiebler M., Screaton N., Tawhai M., Van Beek E., Vonk-Noordegraaf A., Vanderpool R., Wort J., Zhao L., Wild J., Vogel-Claussen J., Swift A.

Pulmonary circulation, 2019

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Rhodes C., Batai K., Bleda M., Haimel M., Southgate L., Germain M., Pauciulo M., Hadinnapola C., Aman J., Girerd B., Arora A., Knight J., Hanscombe K., Karnes J., Kaakinen M., Gall H., Ulrich A., Harbaum L., Cebola I., Ferrer J., Lutz K., Swietlik E., Ahmad F., Amouyel P., Archer S., Argula R., Austin E., Badesch D., Bakshi S., Barnett C., Benza R., Bhatt N., Bogaard H., Burger C., Chakinala M., Church C., Coghlan J., Condliffe R., Corris P., Danesino C., Debette S., Elliott C., Elwing J., Eyries M., Fortin T., Franke A., Frantz R., Frost A., Garcia J., Ghio S., Ghofrani H., Gibbs J., Harley J., He H., Hill N., Hirsch R., Houweling A., Howard L., Ivy D., Kiely D., Klinger J., Kovacs G., Lahm T., Laudes M., Machado R., MacKenzie Ross R., Marsolo K., Martin L., Moledina S., Montani D., Nathan S., Newnham M., Olschewski A., Olschewski H., Oudiz R., Ouwehand W., Peacock A., Pepke-Zaba J., Rehman Z., Robbins I., Roden D., Rosenzweig E., Saydain G., Scelsi L., Schilz R., Seeger W., Shaffer C., Simms R., Simon M., Sitbon O., Suntharalingam J., Tang H., Tchourbanov A., Thenappan T., Torres F., Toshner M., Treacy C., Vonk Noordegraaf A., Waisfisz Q., Walsworth A., Walter R., Wharton J., White R., Wilt J., Wort S., Yung D., Lawrie A., Humbert M., Soubrier F., Trégouët D., Prokopenko I., Kittles R., Gräf S., Nichols W., Trembath R., Desai A., Morrell N., Wilkins M.

The Lancet. Respiratory medicine, 2019

Rare diseases hiding in the cardiomyopathy clinic - The importance of seeing and observing.

Kaski J., Chivers S.

International journal of cardiology, 2019

2018

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Baruteau A., Kyndt F., Behr E., Vink A., Lachaud M., Joong A., Schott J., Horie M., Denjoy I., Crotti L., Shimizu W., Bos J., Stephenson E., Wong L., Abrams D., Davis A., Winbo A., Dubin A., Sanatani S., Liberman L., Kaski J., Rudic B., Kwok S., Rieubland C., Tfelt-Hansen J., Van Hare G., Guyomarc'h-Delasalle B., Blom N., Wijeyeratne Y., Gourraud J., Le Marec H., Ozawa J., Fressart V., Lupoglazoff J., Dagradi F., Spazzolini C., Aiba T., Tester D., Zahavich L., Beauséjour-Ladouceur V., Jadhav M., Skinner J., Franciosi S., Krahn A., Abdelsayed M., Ruben P., Yung T., Ackerman M., Wilde A., Schwartz P., Probst V.

European heart journal, 2018

Risk stratification in childhood hypertrophic cardiomyopathy.

Norrish G., Kaski J.

Global cardiology science & practice, 2018

Prostanoid EP₂ Receptors Are Up-Regulated in Human Pulmonary Arterial Hypertension: A Key Anti-Proliferative Target for Treprostinil in Smooth Muscle Cells.

Patel J., Shen L., Hall S., Benyahia C., Norel X., McAnulty R., Moledina S., Silverstein A., Whittle B., Clapp L.

International journal of molecular sciences, 2018

Racial Variation in Echocardiographic Reference Ranges for Left Chamber Dimensions in Children and Adolescents: A Systematic Review.

Majonga E., Norrish G., Rehman A., Kranzer K., Mujuru H., Nathoo K., Odland J., Kaski J., Ferrand R.

Pediatric cardiology, 2018

The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

Charron P., Elliott P., Gimeno J., Caforio A., Kaski J., Tavazzi L., Tendera M., Maupain C., Laroche C., Rubis P., Jurcut R., Calò L., Heliö T., Sinagra G., Zdravkovic M., Kavoliuniene A., Felix S., Grzybowski J., Losi M., Asselbergs F., García-Pinilla J., Salazar-Mendiguchia J., Mizia-Stec K., Maggioni A.

European heart journal, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S., Haimel M., Bleda M., Hadinnapola C., Southgate L., Li W., Hodgson J., Liu B., Salmon R., Southwood M., Machado R., Martin J., Treacy C., Yates K., Daugherty L., Shamardina O., Whitehorn D., Holden S., Aldred M., Bogaard H., Church C., Coghlan G., Condliffe R., Corris P., Danesino C., Eyries M., Gall H., Ghio S., Ghofrani H., Gibbs J., Girerd B., Houweling A., Howard L., Humbert M., Kiely D., Kovacs G., MacKenzie Ross R., Moledina S., Montani D., Newnham M., Olschewski A., Olschewski H., Peacock A., Pepke-Zaba J., Prokopenko I., Rhodes C., Scelsi L., Seeger W., Soubrier F., Stein D., Suntharalingam J., Swietlik E., Toshner M., van Heel D., Vonk Noordegraaf A., Waisfisz Q., Wharton J., Wort S., Ouwehand W., Soranzo N., Lawrie A., Upton P., Wilkins M., Trembath R., Morrell N.

Nature communications, 2018

Epidemiology and Clinical Aspects of Genetic Cardiomyopathies.

Masarone D., Kaski J., Pacileo G., Elliott P., Bossone E., Day S., Limongelli G.

Heart failure clinics, 2018

Anxiety in children attending a specialist inherited cardiac arrhythmia clinic: a questionnaire study.

Last A., English J., Pote H., Shafran R., Owen T., Kaski J.

BMJ paediatrics open, 2018

2017

Phenotypic Characterization of

Hadinnapola C., Bleda M., Haimel M., Screaton N., Swift A., Dorfmüller P., Preston S., Southwood M., Hernandez-Sanchez J., Martin J., Treacy C., Yates K., Bogaard H., Church C., Coghlan G., Condliffe R., Corris P., Gibbs S., Girerd B., Holden S., Humbert M., Kiely D., Lawrie A., Machado R., MacKenzie Ross R., Moledina S., Montani D., Newnham M., Peacock A., Pepke-Zaba J., Rayner-Matthews P., Shamardina O., Soubrier F., Southgate L., Suntharalingam J., Toshner M., Trembath R., Vonk Noordegraaf A., Wilkins M., Wort S., Wharton J., Gräf S., Morrell N.

Circulation, 2017

Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.

Shelmerdine S., Semple T., Wallis C., Aurora P., Moledina S., Ashworth M., Owens C.

Pediatric pulmonology, 2017

Pulmonary arterial hypertension in children after neonatal arterial switch operation.

Zijlstra W., Elmasry O., Pepplinkhuizen S., Ivy D., Bonnet D., Luijendijk P., Lévy M., Gavilan J., Torrent-Vernetta A., Mendoza A., Del Cerro M., Moledina S., Berger R.

Heart (British Cardiac Society), 2017

High prevalence of early repolarization in the paediatric relatives of sudden arrhythmic death syndrome victims and in normal controls.

McCorquodale A., Poulton R., Hendry J., Norrish G., Field E., Mead-Regan S., Lowe M., Kaski J.

Risk factors for sudden cardiac death in childhood hypertrophic cardiomyopathy: A systematic review and meta-analysis.

Norrish G., Cantarutti N., Pissaridou E., Ridout D., Limongelli G., Elliott P., Kaski J.

European journal of preventive cardiology, 2017

2016

Magnetic Resonance-Augmented Cardiopulmonary Exercise Testing: Comprehensively Assessing Exercise Intolerance in Children With Cardiovascular Disease.

Barber N., Ako E., Kowalik G., Cheang M., Pandya B., Steeden J., Moledina S., Muthurangu V.

Circulation. Cardiovascular imaging, 2016

Feasibility and safety of cardiopulmonary exercise testing in children with pulmonary hypertension.

Abumehdi M., Wardle A., Nazzal R., Charalampopoulos A., Schulze-Neick I., Derrick G., Moledina S., Giardini A.

Cardiology in the young, 2016

Dynamic Risk Stratification of Patient Long-Term Outcome After Pulmonary Endarterectomy: Results From the United Kingdom National Cohort.

Cannon J., Su L., Kiely D., Page K., Toshner M., Swietlik E., Treacy C., Ponnaberanam A., Condliffe R., Sheares K., Taboada D., Dunning J., Tsui S., Ng C., Gopalan D., Screaton N., Elliot C., Gibbs S., Howard L., Corris P., Lordan J., Johnson M., Peacock A., MacKenzie-Ross R., Schreiber B., Coghlan G., Dimopoulos K., Wort S., Gaine S., Moledina S., Jenkins D., Pepke-Zaba J.

Circulation, 2016

Executive summary. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.

Hansmann G., Apitz C., Abdul-Khaliq H., Alastalo T., Beerbaum P., Bonnet D., Dubowy K., Gorenflo M., Hager A., Hilgendorff A., Kaestner M., Koestenberger M., Koskenvuo J., Kozlik-Feldmann R., Kuehne T., Lammers A., Latus H., Michel-Behnke I., Miera O., Moledina S., Muthurangu V., Pattathu J., Schranz D., Warnecke G., Zartner P.

Heart (British Cardiac Society), 2016

Cardiac MR and CT imaging in children with suspected or confirmed pulmonary hypertension/pulmonary hypertensive vascular disease. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.

Latus H., Kuehne T., Beerbaum P., Apitz C., Hansmann G., Muthurangu V., Moledina S.

Heart (British Cardiac Society), 2016

Genetic testing for inheritable cardiac channelopathies.

Szepesváry E., Kaski J.

British journal of hospital medicine (London, England : 2005), 2016

Cardiac catheterization in children with pulmonary hypertensive vascular disease: consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces.

Del Cerro M., Moledina S., Haworth S., Ivy D., Al Dabbagh M., Banjar H., Diaz G., Heath-Freudenthal A., Galal A., Humpl T., Kulkarni S., Lopes A., Mocumbi A., Puri G., Rossouw B., Harikrishnan S., Saxena A., Udo P., Caicedo L., Tamimi O., Adatia I.

Pulmonary circulation, 2016

2015

Left ventricular diastolic dysfunction in pulmonary hypertension predicts functional capacity and clinical worsening: a tissue phase mapping study.

Knight D., Steeden J., Moledina S., Jones A., Coghlan J., Muthurangu V.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance, 2015

Noninvasive pulmonary artery wave intensity analysis in pulmonary hypertension.

Quail M., Knight D., Steeden J., Taelman L., Moledina S., Taylor A., Segers P., Coghlan G., Muthurangu V.

American journal of physiology. Heart and circulatory physiology, 2015

2014

Real-time magnetic resonance assessment of septal curvature accurately tracks acute hemodynamic changes in pediatric pulmonary hypertension.

Pandya B., Quail M., Steeden J., McKee A., Odille F., Taylor A., Schulze-Neick I., Derrick G., Moledina S., Muthurangu V.

Circulation. Cardiovascular imaging, 2014

Repair of congenital heart disease with associated pulmonary hypertension in children: what are the minimal investigative procedures? Consensus statement from the Congenital Heart Disease and Pediatric Task Forces, Pulmonary Vascular Research Institute (PVRI).

Lopes A., Barst R., Haworth S., Rabinovitch M., Al Dabbagh M., Del Cerro M., Ivy D., Kashour T., Kumar K., Harikrishnan S., D'Alto M., Thomaz A., Zorzanelli L., Aiello V., Mocumbi A., Santana M., Galal A., Banjar H., Tamimi O., Heath A., Flores P., Diaz G., Sandoval J., Kothari S., Moledina S., Gonçalves R., Barreto A., Binotto M., Maia M., Al Habshan F., Adatia I.

Pulmonary circulation, 2014