069 Cardiac myosin binding protein C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome

Evolution of hypertrophic cardiomyopathy in sarcomere mutation carriers

“…A small number of longitudinal studies have reported similar phenotypic progression to overt HCM in ∼6–11% of mutation carriers followed over medium-term clinical follow-up 12 13 15 16. In contrast to previous reports, this investigation included more frequent, systematic, and comprehensive evaluation, thus providing new insights into disease development.…”

A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations

“…One was confined to individuals with MYBPC3 mutations31 (57 families and 167 genotype-positive individuals), and one to families with TNNT2 mutations32 (20 families and 92 genotype-positive individuals). Another, reporting on unrelated probands, described a poorer prognosis in sarcomere mutation-positive patients, with an increased incidence of a combined end point of cardiovascular death, evolution to New York Heart Association (NYHA) functional class III or IV HF and non-fatal stroke 42.…”

Sudden Cardiac Death in 2 Young Siblings

“…Two of the frequently involved genes are MYBPC3 and MYH. 8,9 The HCM is almost exclusively transmitted as an autosomal dominant trait. The 2 cases in the current study affected by the disease and being genetically linked as these were siblings also highlight this well-established fact.…”