Familial cardiomyopathies

Carried by: CARDIOGEN

References:

Clinician(s): Philippe CHARRON, Estelle GANDJBAKHCH

Biologist(s): Pascale RICHARD

Presentation

Cardiomyopathies are one of the leading causes of heart failure and sudden death in young people.

These myocardial diseases are often genetic and most commonly transmitted in an autosomal dominant pattern, with more than 70 genes involved.

After analysis by a broad panel, approximately 50% of families remain undiagnosed.

(Richard, Ader & Charron, Hereditary cardiomyopathies. EMC; Cardiologie 2024 11-023-B-20.)

Familial form of cardiomyopathy (at least two living affected individuals): dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM) or arrhythmogenic right ventricular cardiomyopathy (ARVC) or restrictive cardiomyopathy (RCM) or non-compaction of the left ventricle (NCVG)
Possible inclusion of 3 or 4 living family members, including at least 2 affected individuals with cardiomyopathy (variable configuration with the possibility of including 2 to 4 affected individuals, healthy individuals possible if they are non-transmitting parents or other relatives with normal echocardiography and aged at least 50 years)
Data available for affected subjects: clinical history, comorbidities not related to the disease (hypertension for HCM, coronary artery disease for DCM, etc.), echocardiography (and MRI if available), usual diagnostic criteria present
Negative diagnostic panel (level 1 for HCM & ARVC, level 2 for other cardiomyopathies).
Possibility of including an early sporadic case (antenatal/neonatal expression) with healthy parents after exclusion of a metabolic disease.
Possible inclusion (consultation & blood sampling) in one of the Cardiogen national network’s centres of expertise or reference centres (www.filiere-cardiogen.fr)
If a family is eligible for inclusion, please contact one of the MDM managers.