Gene Mutation and Juvenile Deaths

StarryNight_by_Van_GoghEvery so often, we hear a story about a high school or college athlete dropping dead after a practice or game.  My son had a classmate in 5th grade who died while playing kickball on the school playground.  What causes death at that age in someone seemingly fit and healthy?

These deaths have prompted calls for heart screening for young athletes.  However, it’s difficult to search when you don’t know what you want to find.

How we have a better idea.

Research groups in Canada, South Africa and Italy have identified a gene mutation that can cause this sudden death in otherwise healthy young people. CDH2 is a recently identified gene that governs the production of a protein essential for normal adhesion between cardiac cells. When the gene is absent, the victim is at risk for sudden cardiac arrest. Fewer than 10% of victims with sudden heart stoppage outside of a hospital survive.

Since genetic screening isn’t common, finding a genetic cause is a mixed blessing. It means that families that have experienced a premature death need to be screened to see if others in the family have this genetic defect. However, at least in the near term, it won’t do much to prevent that first, shocking death.


Sources:

  1. Linda Carroll, “Teen athletes’ sudden deaths spur call for heart screening,” Today, 2 February 2011. http://www.today.com/health/teen-athletes-sudden-deaths-spur-call-heart-screening-2D80555866
  2. Fox News, “High school athlete’s sudden death stuns Baltimore community,” 1 February 2017. http://www.foxnews.com/health/2017/02/01/high-school-athletes-sudden-death-stuns-baltimore-community.html
  3. Bongani M. Mayosi et al. Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation: Cardiovascular Genetics, March 2017 DOI: 10.1161/CIRCGENETICS.116.001605
  4. McMaster University. “Gene found to cause sudden death in young people: CDH2 is responsible for the production of Cadherin 2 or N-Cadherin, a key protein for normal adhesion between the cardiac cells.” ScienceDaily. ScienceDaily, 9 March 2017. https://www.sciencedaily.com/releases/2017/03/170309150637.htm
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