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


  • Joseph T.C. Shieh,

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    • Joseph Shieh, M.D., Ph.D. is a physician in the Department of Pediatrics and an investigator in the Institute for Human Genetics at the University of California San Francisco. Dr. Shieh practices genomic medicine and received his degrees from Stanford University and the University of Pennsylvania. He trained at the University of Washington and Seattle Children's Hospital in genetics at Stanford and UCSF. His research focuses on the genomics of birth defects, undiagnosed diseases, and cardiovascular biology.
  • John L. Jefferies,

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    • John Jefferies M.D., M.P.H., F.A.C.C., F.A.A.P. is Director of Advanced Heart Failure and Cardiomyopathy and Co-Director, Cardiovascular Genetics, Associate Professor, Pediatric Cardiology and Adult Cardiovascular Diseases and Associate Professor, in the Division of Human Genetics at The Heart Institute of Cincinnati Children's Hospital Medical Center.
  • Alvin J. Chin

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    • Alvin Chin is Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and Senior Cardiologist at the Children's Hospital of Philadelphia. His clinical and research interests have centered on the management of single ventricle disorders and the developmental biology of the cardiovascular system, respectively.

Correspondence to: Joseph Shieh, M.D., Ph.D., Division of Medical Genetics, Department of Pediatrics Institute for Human Genetics University of California San Francisco San Francisco, CA. E-mail:

Correspondence to: Alvin J. Chin, M.D., Division of Cardiology Children's Hospital of Philadelphia 34th Street and Civic Center Boulevard Philadelphia, PA 19104. Email:


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. © 2013 Wiley Periodicals, Inc.