Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background And 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 (ERN GUARD-Heart) network.
Methods: 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.
Results: 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 programs, inconsistent use of standardised protocols, and a shortage of specialists in cardiogenetics emerged as major unmet needs.
Conclusions: Significant variability exists in the transition and multidisciplinary care of patients with inherited and rare cardiomyopathies. Standardised 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/ehjqcco/qcaf055 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Eye (Lond)
September 2025
Genetics Laboratory, Metropolitan South Clinical Laboratory, Bellvitge University Hospital, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Background: Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases.
Subjects/methods: We retrospectively reviewed a cohort of 597 individuals with IRDs, including 525 probands and 72 affected relatives.
Multifactorial Predisposition in Biopsy-Proven Autoimmune and Viral Myocarditis: Genotype-Phenotype Correlations in a Long-Term Prospective Cohort.
JACC Heart Fail
September 2025
Cardiovascular Pathology, Department of Cardiac, Thoracic Vascular Sciences and Public Health, University of Padova, Padova, Italy. Electronic address:
Ranolazine-Induced Type 1 Brugada Pattern.
JACC Case Rep
September 2025
Cardiovascular Diseases Section, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro," Bari, Italy.
Background: Brugada syndrome (BrS) is a rare inherited arrhythmia disease carrying a variable risk of sudden cardiac death. Diagnosis requires the type 1 Brugada electrocardiographic pattern, which can either be spontaneous or induced by sodium channel-blocking drugs. Ranolazine is an antianginal drug acting on the late sodium current with emerging antiarrhythmic properties; no information is available on the safety of ranolazine use in patients with BrS.
View Article and Find Full Text PDFInherited bone marrow failure syndrome 1 (IBMFS1) is a rare autosomal dominant disorder associated with mutations in the SRP72 gene. However, mutations in this gene are exceedingly rare, and the clinical manifestations are often nonspecific, leading to delayed or misdiagnosed cases. The incidence, lifetime risk, and clinical management guidelines for SRP72-related IBMFS1 are poorly understood due to its rarity.
View Article and Find Full Text PDFA Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria.
Clin Genet
September 2025
Eye Hospital, the First Affiliated Hospital of Harbin Medical University, Key Laboratory of Basic and Clinical Research of Heilongjiang Province, Harbin, Heilongjiang Province, People's Republic of China.
Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR. We conducted a comprehensive clinical examination of a patient diagnosed with MCOR and performed whole-exome sequencing to identify potential pathogenic variants.
View Article and Find Full Text PDF