A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern

case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern Case report (1476) Total Article Views Authors: Otsui K, Inoue N, Tamagawa A, Onishi K Published Date April 2012 Volume 2012:5 Pages 19 - 22 DOI: http://dx.doi.org/10.2147/IMCRJ.S30336 Received: 29 January 2012 Accepted: 05 March 2012 Published: 13 April 2012 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.