• Qiaoli Tong, Yajing Miao, and Hongning Yin.
• Department of Cardiac Ultrasound, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
• Medicine (Baltimore). 2024 May 3; 103 (18): e37847e37847.

RationaleMitochondrial diseases are a group of disorders in which mutations in mitochondrial DNA or nuclear DNA lead to dysfunctional oxidative phosphorylation of cells, with mutations in mitochondrial DNA being the most common cause of mitochondrial disease, and mutations in nuclear genes being rarely reported. The echocardiographic findings of mitochondrial diseases with nuclear gene mutations in children's hearts are even rarer. Even more valuable is that we followed up the patient for 4 years and dynamically observed the cardiac echocardiographic manifestations of mitochondrial disease. Provide ideas for the clinical diagnosis and prognosis of mitochondrial diseases.Patient ConcernsThe patient was seen in the pediatric outpatient clinic for poor strength and mental retardation. echocardiography: mild left ventricular (LV) enlargement and LV wall thickening. Nuclear genetic testing: uanosine triphosphate binding protein 3 (GTPBP3) gene mutation. Diagnosis of mitochondrial disease.DiagnosesMitochondrial disease with GTPBP3 gene mutations.OutcomesAfter receiving drug treatment, the patient exhibited a reduction in lactate levels, an enhanced physical condition compared to prior assessments, and demonstrated average intellectual development.Lessons SubsectionsFor echocardiographic indications of LV wall thickening and LV enlargement, one needs to be alert to the possibility of hereditary cardiomyopathy, especially in children.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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