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Sudden Cardiac Death Prevention with Molecular Diagnostic

 

Sudden cardiac death (SCD), also known as sudden arrest, is a major health problem worldwide. It’s been estimated to affect over 300,000 patients annually in United States; in the range of 50-100 per 100,000 persons. A dynamic triggering factor usually interacts with an underlying heart disease, either genetically determined or acquired, and the final outcome is the development of lethal tachyarrhythmias. A comprehensive DNA test can identify at a young age the patients at risk for SCD. Prevention and early treatment prior to the disease being expressed greatly benefits patients and reduces the risk of sudden cardiac death.

Originally presented on September 20, 2017, in Salt Lake City, Utah.

Lecture Presenter

Rong Mao, MD, FACMG

Rong Mao, MD, FACMG

Professor of Pathology
University of Utah School of Medicine
Section Chief, Molecular Genetics and Genomics
ARUP Laboratories

Dr. Mao is a professor of pathology and co-director of the Clinical Molecular Genetics Fellowship Program at the University of Utah School of Medicine. She received her MD from Capital University of Medicine in Beijing, China and her MS in molecular pathology from Beijing Union Medical College. She is board certified by the American Board of Medical Genetics, with a subspecialty in clinical molecular genetics, and certified with the New York State Department of Health, with a subspecialty in genetic testing. She is a member of several professional societies, including American College of Medical Genetics and Genomics, Association for Molecular Pathology, and American Society of Human Genetics. Her research interests include the genotype-phenotype correlations in inborn errors of metabolism and genetic diseases in the RAS/MAPK pathway; she is also involved with implementing next-generation sequencing techniques into molecular diagnostics.

Objectives

After this presentation, participants will be able to:

  • To review the common and uncommon causes of sudden cardiac death (SCD)/cardiac arrest
  • To understand the genetic basis of these conditions
  • To understand the role of provocative diagnostic testing in unmasking the causes of cardiac arrest
  • To explore the role of directed genetics testing in patient and family screening, and the future impact of genome-wide screening on propensity of sudden death

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories