Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy.

ABSTRACT: Familial hypertrophic cardiomyopathy (FHCM) is a genetic disease characterized by left ventricle (LV) or interventricular septum hypertrophy. FHCM is a common heart disease (affecting 1 out of 500 individuals) associated with genetic variants in genes related to the sarcomere, including the MYL2 (myosin light chain 2) gene that is affected in 1 to 3% of the cases. As described in this report, the genetic mutation p.Gly87Ala, rs 397516399 in the MYL2 gene is likely pathogenic. Reported here is the case of a 37-year-old Colombian man with asymmetric septal hypertrophic cardiomyopathy and ventricular tachycardia. The man had progressive symptomatology, a family history of FHCM with a dominant inheritance pattern, a mother and 2 brothers with FHCM, and 2 brothers who died suddenl

SUBMITTER: Gil WS 

PROVIDER: S-EPMC7586884 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature