[Cardiomyopathy showing progression from diffuse left ventricular hypertrophy to dilated phase associated with mitochondrial DNA point mutation A3243G: A case report].
A 44-year-old man was admitted to our hospital because of congestive heart failure. He had various symptoms caused by insulin-dependent diabetes mellitus, sensorineural deafness, Wolff-Parkinson-White syndrome and cardiomyopathy associated with mitochondrial DNA point mutation A3243G. Echocardiography had showed symmetrical hypertrophy of the left ventricular wall and normal cardiac function (ejection fraction 55%) at age 32 years. However, echocardiography showed cardiac transformation, consisting of posterior wall thinning and significantly reduced cardiac function (ejection fraction 11%), at age 44 years. Electrocardiography showed lowered R-wave in the chest leads and QRS widening. Both lactic acid and pyruvate serum levels were increased. Mitochondrial respiratory enzyme analysis in gastrocnemius muscle tissue indicated a partial deficiency of rotenone-sensitive NADH cytochrome C reductase. He was discharged from our hospital, and medically treated with coenzyme Q10(30 mg/day). He had no progression of cardiomyopathy or congestive heart failure. However, he suddenly died of lactic acidosis at age 47 years.
Ohmoto
Naoki
N
Second Department of Internal Medicine, Akita University School of Medicine, Akita.
Fujiwara
Yoshimasa
Y
Kibira
Satoshi
S
Kobayashi
Masao
M
Saito
Takashi
T
Miura
Mamoru
M
D000140:Acidosis, Lactic / Q000150:complications; D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D004452:Echocardiography; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000473:pathology; D017354:Point Mutation; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications
D004272:DNA, Mitochondrial