From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene

摘要

Many of the links between the genotype and phenotype in hypertrophic cardiomyopathy remain unexplained. In this unique longitudinal study we have investigated a patient with classical clinical phenotypic features of hypertrophic obstructive cardiomyopathy, with a known mutation in MYBPC3, the most commonly affected gene in this disease. By collecting cardiac tissue from the patient at the time of surgical myectomy for relief of left ventricular outflow tract obstruction, we have been able to examine the structure of the myocytes and the functional differences that occur in MyBP-C mutated HCM cardiac tissue from single protein level, onto single cardiomyocyte contractility, through to whole organ function as assessed clinically by echocardiography.