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.
Disorders of left ventricular trabeculation/compaction or right ventricular wall formation
Article first published online: 10 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Disorders of Left Ventricular Trabeculation/Compaction or Right Ventricular Wall Formation
Volume 163, Issue 3, pages 141–143, August 2013
How to Cite
2013. Disorders of Left Ventricular Trabeculation/Compaction or Right Ventricular Wall Formation. Am J Med Genet Part C Semin Med Genet 163C:141–143., , .
- Issue published online: 23 JUL 2013
- Article first published online: 10 JUL 2013
- National Institutes of Health, National Heart, Lung, and Blood Institute. Grant Number: HL092970
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.