Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia

Abstract

[first paragraph of article]

Hypertrophic cardiomyopathy (HCM) is an inherited autosomal-dominant disease with a heterogeneous clinical presentation and natural history, and is a frequent cause of sudden cardiac death (SCD) in young people. It is associated with mutations in genes coding for sarcomere proteins. In the literature, debate surrounds the genotype-phenotype correlation of individual mutations concerning establishing a prognosis according to the mutation present, which could help stratify the disease and allow appropriate genetic counselling to families.