Case Report: Lethal mitochondrial cardiomyopathy linked to a compound heterozygous variant of

Siyuan Jing, Qiuyan Yao, Mei Wu, Yifei Li

Abstract readCase Reports

In one paragraph

Article in Frontiers in cardiovascular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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4 authors.

Siyuan Jing *Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Qiuyan Yao *Department of Nursing, West China Second University Hospital, Sichuan University, Chengdu, China.

Mei WuKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Yifei LiKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Variants in the Case presentation: This patient demonstrated fatigue, chest tightness, and shortness of breath. An acute major illness had been identified at the initial evaluation, which was characterized by severe diaphoresis, dizziness, and fatigue. Blood-urine tandem mass spectrometry found multiple disorders in acid metabolism, characterized as increased homovanillic acid (130.39 mmol/L) and 2-hydroxyisovaleric acid (1.70 mmol/L), which are associated with myocardial injuries. Therefore, an inherited metabolic disorder was suspected and whole-exome sequencing was performed, revealing a novel compound heterozygous variant of c.953C>T and c.283G>A on Conclusion: This is the first case to reveal a novel compound heterozygous variant of

Indexed as

dilated cardiomyopathyheart failuremitochondrial disorderPARS2WES

Identifiers

PMID39253392

DOI10.3389/fcvm.2024.1446055

PMCPMC11381293

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