title: 17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene.
abstract: A 60-year-old Japanese man with obstructive hypertrophic cardiomyopathy was found to have a mutation in the cardiac myosin binding protein C gene: a single base deletion of a thymidine residue at nucleotide 11645 (codon 593) in exon 18. He was diagnosed at the age of 43 and has been followed for 17 years. During this follow-up period, echocardiograms and mechanocardiograms revealed progressive hypertrophy until the age of 54, then gradual dilation of the left ventricle associated with a decrease in the obstruction. Paroxysmal atrial fibrillation occurred at the age of 52 and progressed to chronic atrial fibrillation at the age of 53. He had congestive heart failure at the age of 58.
authors.affiliation: The Second Department of Internal Medicine, Ehime University School of Medicine, Osen-gun, Japan.
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Ogimoto
authors.forename: Mareomi
authors.initials: M
authors.lastname: Hamada
authors.forename: Jun
authors.initials: J
authors.lastname: Nakura
authors.forename: Yuji
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hara
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Ohtsuka
authors.forename: Atsuyuki
authors.initials: A
authors.lastname: Morishima
authors.forename: Akinori
authors.initials: A
authors.lastname: Kimura
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Miki
authors.forename: Kunio
authors.initials: K
authors.lastname: Hiwada
mesh_terms: D001281:Atrial Fibrillation; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D018450:Disease Progression; D004452:Echocardiography; D004562:Electrocardiography; D005192:Family Health; D005500:Follow-Up Studies; D016368:Frameshift Mutation; D006333:Heart Failure; D006801:Humans; D008297:Male; D008875:Middle Aged; D020257:Ventricular Remodeling; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C