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

Christoph Sandmann^{1

2}, Sabine Klaassen^{3

4}, Juan Pablo Kaski^{5

6}, Gabrielle Norrish^{7

6}; International Paediatric Hypertrophic Cardiomyopathy Consortium investigators

Collaborators, Affiliations

International Paediatric Hypertrophic Cardiomyopathy Consortium investigators:
Satish Adwani, Aris Anastasakis, Niels Holmark Andersen, Anwar Baban, Roberto Barriales-Villa, Elena Biagni, Tara Bharucha, Vinay Bhole, Georgia Sarquella Brugada, Luc Bruyndonckx, Regina Bokenkamp, Fernando Castro, Melisa Chaker, Fernando Centeno, Piers Daubeney, Hans De Wilde, Grazia Delle Donne, Adrián Fernández, Pablo Garcia-Pavia, Ferran Gran, Victor Grech, Luis García Guereta, Marianna Silvia Guerchicoff Lemcke, Bernadette Khodaghalian, Juan Pablo Kaski, Diala Khraiche, Sabine Klaassen, Alexander Kovacevic, Toru Kubo, Peter Kubus, Giuseppe Limongelli, Katie Linter, Constancio Medrano López, Katarzyna Luczak-Wozniak, Chiara Marrone, Sujeev Mathur, Karen McLeod, Joana Oliveira Miranda, Jens Mogensen, Gabrielle Norrish, Tiina Ojala, Iacopo Olivotto, Francesca Perin, Anca Popoiu, Terence Prendiville, Cristina Ramona Rădulescu, Francesca Raimondi, Zdenka Reinhardt, Christoph Sandmann, Sylvie Schouvey, Gianfranco Sinagra, Marit Kristine Smedsrud, Georgia Spentzou, Bertrand Tchana, Maria Mercedes Saenz Tejeira, Orhan Uzun, Robert Weintraub, Cordula Wolf, Hirokuni Yamazawa, Lidia Ziolkowski

¹ Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
² Internal Medicine III, Cardiology, Department of Internal Medicine, Heidelberg University Hospital, Heidelberg, Germany.
³ Department of Pediatric Cardiology, Deutsches Herzzentrum der Charité, Berlin, Germany.
⁴ Experimental and Clinical Research Center, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁵ Institute of Cardiovascular Science, Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.
⁶ Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children NHS Trust, London, UK.
⁷ Institute of Cardiovascular Science, Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK g.norrish@ucl.ac.uk.

Christoph Sandmann et al. J Med Genet. 2025.

. 2025 Jul 21;62(8):528-530.

doi: 10.1136/jmg-2025-110696.

Christoph Sandmann^{1

2}, Sabine Klaassen^{3

4}, Juan Pablo Kaski^{5

6}, Gabrielle Norrish^{7

6}; International Paediatric Hypertrophic Cardiomyopathy Consortium investigators

International Paediatric Hypertrophic Cardiomyopathy Consortium investigators:
Satish Adwani, Aris Anastasakis, Niels Holmark Andersen, Anwar Baban, Roberto Barriales-Villa, Elena Biagni, Tara Bharucha, Vinay Bhole, Georgia Sarquella Brugada, Luc Bruyndonckx, Regina Bokenkamp, Fernando Castro, Melisa Chaker, Fernando Centeno, Piers Daubeney, Hans De Wilde, Grazia Delle Donne, Adrián Fernández, Pablo Garcia-Pavia, Ferran Gran, Victor Grech, Luis García Guereta, Marianna Silvia Guerchicoff Lemcke, Bernadette Khodaghalian, Juan Pablo Kaski, Diala Khraiche, Sabine Klaassen, Alexander Kovacevic, Toru Kubo, Peter Kubus, Giuseppe Limongelli, Katie Linter, Constancio Medrano López, Katarzyna Luczak-Wozniak, Chiara Marrone, Sujeev Mathur, Karen McLeod, Joana Oliveira Miranda, Jens Mogensen, Gabrielle Norrish, Tiina Ojala, Iacopo Olivotto, Francesca Perin, Anca Popoiu, Terence Prendiville, Cristina Ramona Rădulescu, Francesca Raimondi, Zdenka Reinhardt, Christoph Sandmann, Sylvie Schouvey, Gianfranco Sinagra, Marit Kristine Smedsrud, Georgia Spentzou, Bertrand Tchana, Maria Mercedes Saenz Tejeira, Orhan Uzun, Robert Weintraub, Cordula Wolf, Hirokuni Yamazawa, Lidia Ziolkowski

¹ Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
² Internal Medicine III, Cardiology, Department of Internal Medicine, Heidelberg University Hospital, Heidelberg, Germany.
³ Department of Pediatric Cardiology, Deutsches Herzzentrum der Charité, Berlin, Germany.
⁴ Experimental and Clinical Research Center, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁵ Institute of Cardiovascular Science, Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.
⁶ Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children NHS Trust, London, UK.
⁷ Institute of Cardiovascular Science, Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK g.norrish@ucl.ac.uk.

No abstract available

Keywords: Cardiomyopathies; Genetic Diseases, Inborn; Genetic Testing; Genetics, Medical; Pediatrics.

Conflict of interest statement

Competing interests: None declared.

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