Thematic area 2: Familial Cardiomyopathies in Adults and Children
Familial cardiomyopathies refer to diseases of the heart muscle and are characterised by a subtantial phenotype heterogeneity. The heart muscle becomes enlarged, thick or rigid, and in rare cases the muscle tissue is replaced by scar tissue. For many of these diseases the genetic cause is known which enables presymptomatic counselling. Virtually all treatment options are related to symptoms and not to preventing the disease to develop. Presymptomatic treatment therefore is ill defined.
For the scope of ERN GUARD-HEART, the following cardiomyopathies are included:
- Arrhythmogenic cardiomyopathy
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Non-compaction cardiomyopathy
This thematic area is led bij Prof. Philippe Charron, head of the Cardiogenetics outpatient clinic, Pitié-Salpêtrière Hospital, Paris.