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Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):141-3. doi: 10.1002/ajmg.c.31370. Epub 2013 Jul 10.

Disorders of left ventricular trabeculation/compaction or right ventricular wall formation.

Author information

1
Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. shiehj2@humgen.ucsf.edu

Abstract

Cardiomyopathies are remarkably variable in form. Although hearts may be dilated or hypertrophic, the spectrum of cardiomyopathies includes left ventricular noncompaction/hypertrabeculation and right ventricular wall disorders. These conditions have been increasingly recognized in patients given advances in clinical diagnostics. Here we present information on cardiac pathophysiology, from ventricular wall formation and trabeculae in model organisms to pediatric and adult disease. Many genes to affect the ventricular phenotype, and this has implications for deciphering developmental and disease pathways and for applying testing for clinical care.

PMID:
23843328
PMCID:
PMC3727172
DOI:
10.1002/ajmg.c.31370
[Indexed for MEDLINE]
Free PMC Article

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