title: A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern.
abstract: A 61-year-old diabetic woman with a mitochondrial A3243G mutation was hospitalized for evaluation of breathlessness, general fatigue, and leg edema. Chest radiography revealed cardiomegaly with massive pleural effusion. Serum lactate, pyruvate, and brain natriuretic peptide concentrations were elevated. Transthoracic echocardiography revealed a restrictive pattern of transmitral flow, although systolic function of the left ventricle was only mildly impaired. Based on these findings and her clinical course, the patient was diagnosed with right-sided heart failure caused by mitochondrial cardiomyopathy associated with a restrictive transmitral filling pattern. Treatment with furosemide, enalapril, and eplerenone was effective, and improvement in her symptoms was associated with amelioration of transthoracic echocardiographic findings and a reduction in serum brain natriuretic peptide levels. Previous reports have indicated heterogeneity in the clinical features of mitochondrial cardiomyopathy in patients carrying the A3243G mutation; the present case highlights the substantial variability in the clinical features of this disease.
authors.affiliation: Department of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Otsui
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Inoue
authors.forename: Anna
authors.initials: A
authors.lastname: Tamagawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Onishi
keywords: A3243G mutation; diastolic dysfunction; mitochondrial disease; transmitral flow