Cardiogenic shock in a woman with a mitochondrial cardiomyopathy: a case report.

Content Provider	Europe PMC
Author	Girard, Andrew Heindl, Brittain Clarkson, Stephen Litovsky, Silvio Ubogu, Eroboghene Schwartzlow, Coreen Tallaj, Jose
Editor	Safarova, Maya S Kitai, Takeshi Nuzzi, Vincenzo Agarwal, Megha Salekin, Damien Farhad Nur
Copyright Year	2023
Abstract	BackgroundMitochondrial cardiomyopathy (MCM) is an alteration in cardiac structure and function caused by gene mutations or deletions affecting components of the mitochondrial respiratory chain. We report a case of MCM presenting as cardiogenic shock, ultimately requiring left ventricular assist device (LVAD) placement.Case summaryA 35-year-old woman with chronic weakness and non-ischaemic cardiomyopathy, on home dobutamine, was referred to our institution for heart transplantation evaluation. She was admitted to the hospital for suspected cardiogenic shock after laboratory tests revealed a lactate level of 5.4 mmol/L (ref: 0.5–2.2 mmol/L). Her hospital course was complicated by persistently undulating lactate levels (0.2–8.6 mmol/L) that increased with exertion and did not correlate with mixed venous oxygen saturation measurements obtained from a pulmonary artery catheter. Electrodiagnostic testing demonstrated a proximal appendicular and axial myopathy. A left deltoid muscle biopsy was performed that demonstrated evidence of a mitochondrial disease on light and electron microscopy. Muscle genetic testing revealed two large-scale mitochondrial deoxyribonucleic acid sequence deletions, confirming the diagnosis of MCM. She subsequently underwent LVAD placement, which was complicated by significant right ventricular failure requiring early mechanical support. She was ultimately discharged home with chronic inotropic support.DiscussionMitochondrial cardiomyopathy in adults is a diagnostic and therapeutic challenge. Prompt diagnosis should be made in patients with unknown causes of heart failure via skeletal muscle histopathology guided by electrodiagnostic studies, and targeted genetic testing in affected tissue. Outcomes in adult MCM patients who receive an LVAD are unknown and warrant further investigation.
Page Count	8
Journal	European Heart Journal: Case Reports
Volume Number	7
PubMed Central reference number	PMC10133997
Issue Number	4
PubMed reference number	37123653
e-ISSN	25142119
DOI	10.1093/ehjcr/ytad183
Language	English
Publisher	Oxford University Press
Publisher Date	2023-04-18
Publisher Place	US
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com © The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.
Subject Keyword	Mitochondrial cardiomyopathy Mitochondrial DNA disease Advanced heart failure Mechanical circulatory support device Case report
Content Type	Text
Resource Type	Article
Subject	Cardiology and Cardiovascular Medicine