SPECTRUM OF SYNTHETASE SHORTAGE: FAMILIAL CARDIOMYOPATHY DUE TO TMEM70 ATP SYNTHASE DEFICIENCY
Recommended Citation
Almajed M, Mittal A, Ama S, Muhammad N, Michaels AT. SPECTRUM OF SYNTHETASE SHORTAGE: FAMILIAL CARDIOMYOPATHY DUE TO TMEM70 ATP SYNTHASE DEFICIENCY. J Am Coll Cardiol 2024; 83(13):3205.
Document Type
Conference Proceeding
Publication Date
4-1-2024
Publication Title
J Am Coll Cardiol
Abstract
Background Mitochondrial encephalocardiomyopathy involves mitochondrial degeneration due to genetic mutations in the TMEM70 gene, resulting in ATP synthase deficiency. Initial reports described neonatal presentations with a poor prognosis and short lifespan. However, recent studies describe a spectrum of disease as some patients survive to adulthood with cognitive impairment, hypotonia, and cardiomyopathy. Case A 25-year-old man presented with new-onset decompensated heart failure. Family history was significant for cardiomyopathy with end-stage heart failure in early life. His paternal grandfather died at the age of 40; he had ten children, eight died from heart failure between the ages of 25 to 40. Echocardiogram demonstrated a left ventricular ejection fraction of 15% with diastolic dysfunction and severe aortic insufficiency. Right-heart catheterization revealed elevated filling pressures. Invasive coronary angiography revealed normal coronary arteries. Cardiac magnetic resonance imaging showed severe biventricular dilation and a bicuspid aortic valve, there was no evidence of inflammatory or infiltrative cardiomyopathy. Decision-making Our patient was medically managed for heart failure. Despite this, he developed cardiogenic shock refractory to inotropic therapy and underwent mechanical circulatory support (MCS) with extra-corporeal membrane oxygenation. A heart team determined him to be a candidate for durable MCS implantation with a destination therapy left-ventricular assist device (LVAD). He underwent surgical LVAD implantation and aortic valve replacement (AVR). Genetic testing identified a pathogenic variant in TMEM70 that is associated with autosomal recessive ATP synthase deficiency, a cause of mitochondrial encephalocardiomyopathy. Conclusion We report a case of a 25-year-old man with end-stage heart failure who was managed with LVAD and AVR. Genetic testing identified a mutation in the TMEM70 gene to be the likely cause of his familial cardiomyopathy. This case demonstrates the role of advanced therapies in the treatment of genetic cardiomyopathy and the importance of identifying the etiology to assist with counseling.
Volume
83
Issue
13
First Page
3205
