A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

Conclusion: Herein, we report a MYH7 variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research