Key result
Genetic testing identifies a novel CASZ1 variant linked to infant dilated and noncompaction cardiomyopathy.
Why the study?
CASZ1 variants are associated with dilated cardiomyopathy and noncompaction cardiomyopathy, but reported cases remain limited.
Case Report (n=1)
This case highlights a novel CASZ1 variant leading to DCM and NCCM, emphasizing the critical role of genetic testing in pediatric patients with unexplained cardiomyopathy.
May prompt genetic testing in unexplained pediatric cardiomyopathy; leaves open variant validation and prevalence.
BACKGROUND: The CASZ1 gene expresses a cardiomyocyte transcription factor implicated in early heart morphogenesis. CASZ1 variants have been associated with the development of dilated cardiomyopathy (DCM) and noncompaction cardiomyopathy (NCCM), although reported cases are limited. CASE SUMMARY: A 3-month-old boy with no family history of cardiomyopathy presented with a murmur and persistent tachycardia. Echocardiogram showed moderate global left ventricular hypokinesis with trabeculations and mild left atrial dilation. Genetic testing identified an autosomal dominant CASZ1 variant in exon 15, c.3088del:p.(His1030Thrfs∗120), inherited from his asymptomatic mother. Although he is clinically doing well at age 18 months, he will need lifelong management. DISCUSSION: Our case highlights the discovery of a novel CASZ1 variant leading to DCM and NCCM, emphasizing the importance of genetic testing in patients with no known family history. TAKE-HOME MESSAGE: Genetic testing is a critical component of the workup of unexplained DCM and NCCM in pediatric patients.
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Sekiguchi et al. (2026) conducted a case report in Dilated and Noncompaction Cardiomyopathy (n=1). CASZ1 variant c.3088del:p.(His1030Thrfs∗120) was evaluated on Clinical presentation and genetic diagnosis. A novel autosomal dominant CASZ1 variant (c.3088del) was identified in a 3-month-old boy presenting with dilated and noncompaction cardiomyopathy, highlighting the role of genetic testing.
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