Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium that is estimated to affect one in 500 individuals (Marian & Roberts, 2001; Maron, 2002). Additionally, it is the most common form of cardiovascular disease in the domestic cat (Kittleson et al., 1999). Mutations in the cardiac myosin binding protein C (MYBPC3) gene are the most common genetic cause of HCM in humans (Richard et al...

Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in MYBPC3 encoding cardiac myosin-binding protein C (cMyBP-C). The mechanisms leading from gene mutations to the HCM phenotype remain incompletely understood, partially because current mouse models of HCM do not faithfully reflect the human situation and early hypertrophy confounds the interpretation of functional alterations. ...

BACKGROUND Previous data suggest that mitral valve leaflets are elongated in hypertrophic cardiomyopathy (HCM), and mitral valve leaflet elongation may constitute a primary phenotypic expression of HCM. Our objective was to measure the length of mitral valve leaflets by cardiovascular magnetic resonance (CMR) in subjects with HCM caused by a Finnish founder mutation in the myosin-binding protei...

BACKGROUND A mutation in the sarcomeric gene coding for the myosin-binding protein C gene has been identified in a colony of Maine Coon cats with hypertrophic cardiomyopathy (MyBPC3-A31P mutation). However, the close correlation between genotype and phenotype (left ventricular hypertrophy [LVH] and dysfunction) has never been assessed in a large population, particularly in heterozygous (Hetero)...

BACKGROUND The childhood onset of idiopathic cardiac hypertrophy that occurs without a family history of cardiomyopathy can portend a poor prognosis. Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown. METHODS We assessed the family and medical histories of 84 children (63 boys and 21 girls) with id...

We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.

Background: Hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. It comes from mutations in sarcomeric proteins. Cardiac myosin-binding protein C3 is one of the critical genes in hypertrophic cardiomyopathy (HCM) and sudden cardiac death, accounting for about 20% of HCM-causing mutations. Genetic testing is recommended in patients with HCM....

BACKGROUND AND AIM This study reports the prevalence of five clinically significant variants associated with increased risk of cardiovascular disorders, and variable responses of individuals to commonly prescribed cardiovascular drugs in a South Indian population from the state of Kerala. MATERIALS AND METHODS Genomic DNA isolated from 100 out-patient samples from Kerala were sequenced to exa...

background: hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. it comes from mutations in sarcomeric proteins. cardiac myosin-binding protein c3 is one of the critical genes in hypertrophic cardiomyopathy (hcm) and sudden cardiac death, accounting for about 20% of hcm-causing mutations. genetic testing is recommended in patients with hcm....