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Case Reports
. 2024 May 3;103(18):e37847.
doi: 10.1097/MD.0000000000037847.

Echocardiographic manifestations of mitochondrial disease with GTPBP3 gene mutations: A case report

Qiaoli Tong  1 , Yajing Miao, Hongning Yin
Affiliations
Case Reports

Echocardiographic manifestations of mitochondrial disease with GTPBP3 gene mutations: A case report

Qiaoli Tong et al. Medicine (Baltimore). .

Abstract

Rationale: Mitochondrial 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 concerns: The 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.

Diagnoses: Mitochondrial disease with GTPBP3 gene mutations.

Outcomes: After 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 subsections: For echocardiographic indications of LV wall thickening and LV enlargement, one needs to be alert to the possibility of hereditary cardiomyopathy, especially in children.

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Conflict of interest statement

The authors have no funding and conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
The findings of pedigree Sanger sequencing analysis were as follows. (A) The proband carried homozygous mutations on the GTPBP3 gene; (B) the father of the proband exhibited heterozygous mutations on the GTPBP3 gene; (C) the mother of the proband also had heterozygous mutations on the GTPBP3gene. GTPBP3 = guanosine triphosphate binding protein 3.
Figure 2.
Figure 2.
Cranial MRI showed that there were abnormal signs (White arrow) in right frontal. (A) and left parietal areas as well as symmetrical abnormal signals in bilateral cerebellum. (B and C) and corpora quadrigemina. MRI = magnetic resonance imaging.
Figure 3.
Figure 3.
The echocardiography when the child was 10 revealed reduced LV-GLS. GLS = global longitudinal strain, LV = left ventricular.
See this image and copyright information in PMC

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