"Double-hit" precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report.

Zhenhui Pan, Jiaojiao Wan, Kaiyu Zhou, Min Tan, Yifei Li

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Article in Frontiers in cardiovascular medicine, 2026. 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 authors.

Zhenhui Pan *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.

Jiaojiao Wan *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.

Kaiyu ZhouKey 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.

Min TanKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatric Cardiovascular Nursing, West China School of Nursing, 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

Background: Clinical evidence increasingly supports that in children harboring underlying dilated cardiomyopathy (DCM) associated genetic variants, respiratory viral infection frequently serves as the unmasking trigger, precipitating fulminant cardiac dysfunction. Herein, we report a case of DCM with a homozygous loss-of-function Case presentation: The proband was a 5-year-old boy presented fulminant cardiac dysfunction. Respiratory pathogen panel was positive for rhinovirus. Exome sequencing (ES) identified a novel homozygous variant in Conclusion: To our knowledge, this is the first report of the novel homozygous CAP2 c.551G > A (p.W184; NM_006366.3) variant associated with pediatric DCM. And the early genetic screening should be prioritized in children presenting with unexplained cardiac malformation, growth retardation, or a family history of consanguinity. Moreover, infection prevention and prompt intervention, including adherence to recommended vaccination schedules, are paramount in known DCM carriers.

Indexed as

CAP2dilated cardiomyopathydistinguish diagnosisdouble hitsexome sequencing

Identifiers

PMID42344352

DOI10.3389/fcvm.2026.1846316

PMCPMC13286979

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