Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.

ABSTRACT:

Background

Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with greatest involvement most commonly of the interventricular septum.Case presentation During a sports medicine control, a ultrasound scan in a 17 years old patient has shown a concentric left ventricular parietal hypertrophy associated with a 23 mm mid- basal interventricular septum thickness. After genetic counselling, a positive family history for hypertrophic cardiac disease and parents' consanguineity was found. The genetic basis of the hypertrophic cardiomyopathy was investigated through a dedicated gene panel. The genetic test has reveale

SUBMITTER: Serra W 

PROVIDER: S-EPMC9803765 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature