JACC. Case reports · 2026
Dilated and Noncompaction Cardiomyopathy in a Pediatric Patient With Maternal CASZ1 Variant.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sekiguchi Lauren, Nguyen-Truong Michael, Lin Kristy Y, Chan David P
Аннотация
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.
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.