Implications of genetic testing in noncompaction/hypertrabeculation


  • 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.

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


Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in clinical management? Genomic technologies have also expanded tremendously, making testing more comprehensive, but they also present new questions given the tremendous diversity of phenotypes and variability of genomes. Here we present genetic evaluation strategies and assess clinical testing options for noncompaction/hypertrabeculation. We assess genes/gene panels offered by clinical laboratories and the potential for high-throughput sequencing to fuel further discovery. We discuss challenges in cardiovascular genetics, such as interpretation of genomic variants, prediction and disease penetrance. © 2013 Wiley Periodicals, Inc.