Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report

• Published in: BMC cardiovascular disorders 2023-09, Vol.23 (1), p.1-464, Article 464
• Main Authors: Wu, Guiping, Han, Yijun, Zhao, Lifeng, Zhang, Hong, Fan, Xiuzhao, Li, Weiqin, Che, Xiaowen, Zhou, Yun
• Format: Article
• Language: English
• Subjects: Biopsy; Cardiac function; Care and treatment; Case reports; Causes of; Coenzyme Q10; Complications and side effects; Congestive heart failure; Creatine; Creatine kinase; Diagnosis; Echocardiography; Edema; Enzymes; Families & family life; Genes; Heart; Heart enlargement; Heart failure; Hemoglobin; Heterozygotes; Hypertension; Hypertrophy; Hypoxia; Kinases; Lactates; Left ventricular hypertrophy; Medical research; Medicine, Experimental; Mitochondrial DNA; Mitochondrial myopathies; Mitochondrial myopathy; Muscles; Musculoskeletal system; Mutation; Myopathy; Next-generation sequencing; Patients; Peptides; Pharynx; Phosphorylation; Pulmonary arteries; Pulmonary artery; Pulmonary artery hypertension; Respiratory failure; Structure-function relationships; Veins & arteries; Ventricle
• ISSN: 1471-2261; 1471-2261
• DOI: 10.1186/s12872-023-03444-z

Background Mitochondrial myopathies (MMs) are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or mutations of nuclear DNA (nDNA). The diagnosis of mitochondrial myopathy (MM) is reliant on the combination of history and physical examination, muscle biopsy, histochemical studies, and next-generation sequencing. Patients with MMs have diverse clinical manifestations. In the contemporary literature, there is a paucity of reports on cardiac structure and function in this rare disease. We report a Chinese man with MM accompanied with both acute right heart failure and left ventricular hypertrophy. Case presentation A 49-year-old man presented with clinical features suggestive of MM, i.e., ophthalmoparesis, weakness of the pharyngeal and extremity muscles, and respiratory muscles which gradually progressed to respiratory insufficiency. He had a family history of mitochondrial myopathy. He had increased levels of serum creatine kinase and lactate. Muscle biopsy of left lateral thigh revealed 8% ragged red fibers (RRF) and 42% COX-negative fibers. Gene sequencing revealed a novel heterozygote TK2 variant (NM_001172644: c.584T>C, p.Leu195Pro) and another heterozygous variant (NM_004614.4:c.156+958G>A; rs1965661603) in the intron of TK2 gene. Based on these findings, we diagnosed the patient as a case of MM. Echocardiography revealed right heart enlargement, pulmonary hypertension, left ventricular hypertrophy, and thickening of the main pulmonary artery and its branches. The patient received non-invasive ventilation and coenzyme Q10 (CoQ10). The cardiac structure and function were restored at 1-month follow-up. Conclusions This is the first report of reversible cardiac function impairment and left ventricular hypertrophy in a case of adult-onset MM, nocturnal hypoxia is a potential mechanism for left ventricular hypertrophy in patients with MM. Keywords: Mitochondrial myopathy, Heart failure, Respiratory failure, Pulmonary artery hypertension, Left ventricular hypertrophy