Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) represents one of the most common inherited cardiac conditions, and more than 50 % have a tendency of familial aggregation. However, there is a lack of plenty pedigrees to analyze the clinical characteristics. This study collected 1023 unrelated HCM probands, conducted Sanger sequencing on whom carrying MYH7-R143Q and analyzed the clinical data. The detection rate of MYH7-R143Q was 2.54 % (26/1023). In patients with HCM carrying MYH7-R143Q, the diagnosis age is often concentrated in 31–40 years with moderate hypertrophy and fibrosis, which usually concentrate in the anterior and inferior septum of the basal and mid regions, representing moderate risk of SCD. Besides, this variant represented different genetic characteristics, including incomplete penetrance of autosomal dominant inheritance, polygenic cumulative effect and et al. It is the first time to investigate clinical phenotypes in multiple families carrying the same variant locus MYH7-R143Q, providing a theoretical basis for genetic counseling in clinical practice.