Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report.
BMC Cardiovasc Disord
; 23(1): 464, 2023 09 15.
Article
en En
| MEDLINE
| ID: mdl-37715114
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_004614.4c.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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Miopatías Mitocondriales
/
Hipertrofia Ventricular Izquierda
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
BMC Cardiovasc Disord
Asunto de la revista:
ANGIOLOGIA
/
CARDIOLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China