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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.
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.
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