Figure126

Clinical Manifestations of Dilated and Hypertrophic Cardiomyopathy Due to Missense Mutations in the Gene for Cardiac beta-Myosin Heavy Chain. Panel A shows a two-dimensional echocardiogram of Subject 111-16 in Family A at age of 30 years.Marked ventricular dilatation(left ventricular end-diastolic dimension ,7.7cm) is evident, and there is no septal or free wall hypertrophy.The missense mutation Arg719Gln in the gene for cardiac beta-myosin heavy chain causes marked interventricular hypertrophy(left ventricular end diastolic dimension,3.8cm) without dilatation(PanelB).A left ventricular specimen from the explanted heart of Subject111-14 in Family A(PanelC,x200) is characterized by nonspecific abnormalities (i.e.,mildly increased interstitial fibrosis) but not by myocyte and myofibrillar disarray .The missense mutation Arg719Gln in the gene for cardiac beta-myosin heavy chain causes myocyte hypertrophy,disarray ,and abundant interstitial fibrosis(Panel D,x200).

Reference: Kamisago,M. and Others:Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy;The New England J ournal of Medicine;Vol.343;No23,12/7/00.PP.1681-1687