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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Wu, Guiping Han, Yijun Zhao, Lifeng Zhang, Hong Fan, Xiuzhao Li, Weiqin Che, Xiaowen Zhou, Yun |
| Abstract | 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. |
| Related Links | https://bmccardiovascdisord.biomedcentral.com/counter/pdf/10.1186/s12872-023-03444-z.pdf |
| Ending Page | 8 |
| Page Count | 8 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712261 |
| DOI | 10.1186/s12872-023-03444-z |
| Journal | BMC Cardiovascular Disorders |
| Issue Number | 1 |
| Volume Number | 23 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2023-09-15 |
| Access Restriction | Open |
| Subject Keyword | Cardiology Cardiac Surgery Angiology Blood Transfusion Medicine Internal Medicine Medicine Public Health Mitochondrial myopathy Heart failure Respiratory failure Pulmonary artery hypertension Left ventricular hypertrophy Medicine/Public Health |
| Content Type | Text |
| Resource Type | Article |
| Subject | Cardiology and Cardiovascular Medicine |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.3/2023 |
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