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A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern

Authors Otsui, Inoue N, Tamagwa, Onishi

Received 29 January 2012

Accepted for publication 5 March 2012

Published 13 April 2012 Volume 2012:5 Pages 19—22


Review by Single anonymous peer review

Peer reviewer comments 3

Kazunori Otsui, Nobutaka Inoue, Anna Tamagawa, Kazuo Onishi
Department of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, Japan

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.

Keywords: mitochondrial disease, A3243G mutation, diastolic dysfunction, transmitral flow

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