17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene.
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.
Ogimoto
Akiyoshi
A
The Second Department of Internal Medicine, Ehime University School of Medicine, Osen-gun, Japan.
Hamada
Mareomi
M
Nakura
Jun
J
Shigematsu
Yuji
Y
Hara
Yuji
Y
Ohtsuka
Tomoaki
T
Morishima
Atsuyuki
A
Kimura
Akinori
A
Miki
Tetsuro
T
Hiwada
Kunio
K
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
D002352:Carrier Proteins; D000099163:Myosin Binding Protein C