Current management of transition and multidisciplinary care of patients with inherited and rare cardiomyopathies in Europe: results of the European Reference Network for rare and low prevalence complex diseases of the heart
Por:
Monda E, Biagini E, Blom N, Drago F, Krapels I, Krebsová A, Koubsky K, Khraiche D, Martins E, Merlo M, Michels M, Mizia-Stec K, Mörner S, Peña Peña ML, Planinc I, Robyns T, Rydberg A, Saenen J, Rodríguez Palomares JF, Rutger H, Sarquella-Brugada G, Scheirlynck E, Schulze-Bahr E, Tfelt-Hansen J, Wolf CM, Hofman N, Amin AS, Wilde A, Charron P and Limongelli G
Publicada:
1 nov 2025
Ahead of Print:
1 jul 2025
Resumen:
Aims Cardiomyopathies are a heterogeneous group of genetic disorders requiring specialised, multidisciplinary management to optimize patient outcomes. A critical aspect of care is the transition of paediatric patients to adult services, which varies significantly across healthcare systems. This study assessed current practices in care transition and multidisciplinary management of inherited and rare cardiomyopathies across specialised European centres within the European Reference Network for rare and low prevalence complex diseases of the heart network.Aims Cardiomyopathies are a heterogeneous group of genetic disorders requiring specialised, multidisciplinary management to optimize patient outcomes. A critical aspect of care is the transition of paediatric patients to adult services, which varies significantly across healthcare systems. This study assessed current practices in care transition and multidisciplinary management of inherited and rare cardiomyopathies across specialised European centres within the European Reference Network for rare and low prevalence complex diseases of the heart network.Methods and results A 21-question survey was distributed to healthcare providers within the network. A single participant (i.e. cardiologist with expertise in the diagnosis and management of inherited and rare cardiomyopathies) from each centre was approached. Responses from 26 centres across 12 European countries were analysed using descriptive statistics to evaluate institutional characteristics, transition protocols, and multidisciplinary team involvement. While 81% of centres reported having a transition plan, only 42% implemented it for all patients, and 19% had no formal protocol. Multidisciplinary care was well integrated, with regular team discussions, though key professionals such as psychologists and nurses were often absent. The lack of structured transition programmes, inconsistent use of standardized protocols, and a shortage of specialists in cardiogenetics emerged as major unmet needs.Conclusion Significant variability exists in the transition and multidisciplinary care of patients with inherited and rare cardiomyopathies. Standardized transition protocols, greater involvement of multiple healthcare professionals, and enhanced training in cardiogenetics are needed to ensure continuity of care and improve patient care across Europe.
Filiaciones:
Monda E:
Department of Translational Medical Sciences, Inherited and Rare Cardiovascular Diseases, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Via Leonardo Bianchi, 80131 Naples, Italy
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Biagini E:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Cardiology Unit, IRCSS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Blom N:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Pediatrics, Division of Pediatric Cardiology, Leiden University Medical Center, Leiden, the Netherlands
Drago F:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Pediatric Cardiology and Cardiac Arrhythmia/Syncope Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
Krapels I:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands
Krebsová A:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
Koubsky K:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Children's Heart Centre, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic
Khraiche D:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Pediatric and Congenital Cardiology Unit, Hôpital Necker Enfants Malades, M3C-Necker, Paris, France
Martins E:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Medicine, Faculty of Medicine, University of Porto, Porto, Portugal
Merlo M:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy
Michels M:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus Medical Center, Rotterdam, the Netherlands
Mizia-Stec K:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
First Department of Cardiology, Medical University of Silesia School of Medicine in Katowice, Katowice, Poland
Mörner S:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
Peña Peña ML:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Cardiology, Virgen del Rocio University Hospital Cardiology and Cardiovascular Surgery Service, Sevilla, Spain
Planinc I:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiovascular Diseases, University of Zagreb School of Medicine and Univerisity Hospital Centre Zagreb, Zagreb, Croatia
Robyns T:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium
Rydberg A:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
Saenen J:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Antwerp University Hospital, Antwerp, Belgium
Rodríguez Palomares JF:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain
Rutger H:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands
Sarquella-Brugada G:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain
Scheirlynck E:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Centrum Voor Hart-en Vaatziekten, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, Brussels, Belgium
Schulze-Bahr E:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Institute for Genetics of Heart Diseases, University Hospital Münster, Münster, Germany
Tfelt-Hansen J:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Wolf CM:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Congenital Heart Defects and Pediatric Cardiology, TUM University Hospital German Heart Center, Munich, Germany
Hofman N:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam Cardiovascular Science, Heart Failure and Arrhythmias, the Netherlands
Amin AS:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam Cardiovascular Science, Heart Failure and Arrhythmias, the Netherlands
Wilde A:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Department of Cardiology, Amsterdam UMC Location University of Amsterdam, Amsterdam Cardiovascular Science, Heart Failure and Arrhythmias, the Netherlands
Charron P:
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Sorbonne Université, Département de Cardiologie et Département de Génétique, AP-HP, Hôpital Universitaire Pitié-Salpêtrière, Paris, France
Limongelli G:
Department of Translational Medical Sciences, Inherited and Rare Cardiovascular Diseases, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Via Leonardo Bianchi, 80131 Naples, Italy
Member of the European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart)
Green Accepted, Green Submitted, Green Published
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