HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY DUE TO A NOVEL T-TO-A TRANSITION AT CODON-624 IN THE BETA-MYOSIN HEAVY-CHAIN (BETA-MHC) GENE POSSIBLY RELATED TO THE SUDDEN-DEATH

Many missense mutations in the beta-myosin heavy chain have been repor ted in patients with hypertrophic obstructive cardiomyopathy (HOCM). H owever, the controversy is present whether the mutation accompanying t he change of electric charge is related with poorer prognosis. The pro band, a 48-year-old female, of the family was diagnosed clinically as HOCM, and a structural analysis of the cardiac beta-MHC gene showed th at the proband and her junior daughter had a novel mutation with T to A transition in codon 624 replacing tyrosine with asparagine, which wa s not present in her husband, elder daughter and son. The proband's hu sband, son and two daughters were healthy except that the ECG of junio r daughter (15-year-old) showed complete right bundle branch block. Pr oband's mother died suddenly after the delivery of the proband and the proband also collapsed suddenly. The occurrence of sudden death in pr oband and her mother suggested that HOCM with this novel mutation migh t be associated with a high risk of sudden death irrespective of the a bsence of charge alteration. (C) 1997 Elsevier Science Ireland Ltd.