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Dilated and Noncompaction Cardiomyopathy in a Pediatric Patient With Maternal CASZ1 Variant

Lauren Sekiguchi1, Michael Nguyen-Truong1, Kristy Y Lin1

  • 1Carle Illinois College of Medicine, Urbana, Illinois, USA.

JACC. Case Reports
|June 2, 2026
PubMed

Insights

A novel CASZ1 gene variant was identified in a pediatric patient with dilated cardiomyopathy (DCM) and noncompaction cardiomyopathy (NCCM). This highlights the importance of genetic testing for unexplained cases, even without a family history.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Pediatric Cardiology

Background:

  • The CASZ1 gene encodes a crucial transcription factor for early heart development.
  • CASZ1 variants are linked to dilated cardiomyopathy (DCM) and noncompaction cardiomyopathy (NCCM), but documented instances are scarce.
Abstract

Keywords:
cardiomyopathygenetic disordersgeneticsleft ventriclemurmurtachycardia

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