HCM-C - Hypertrophic Cardiomyopathy/Ragdoll

Cardiac insufficiency

Description: 
Progressive thickening of the cardiac muscle, notably a left ventricular hypertrophy, thereby obstructing the outflow of blood. The mutated protein is involved in the cardiac contraction.
Symptomes: 
Cardiac murmur, cardiac arrhythmia, breathing difficulty, exercise intolerance, fatigability
Age d'aparition: 
Between 4 months and 15 years old
Fréquence: 
20%
Gène impliqué: 
MYBPC
Mutation testée: 
c.2460C>T (R820W)
Transmission: 
Autosomal Dominant
Brevet: 
_
Remarques: 
A great expression variability is observed: the severe form can cause sudden death before one year old and the mild form might be expressed from 10 years old. The DNA test cannot predict the age of onset nor the grade of the disease.