April 1 st, 2013 Heart Failure Education Series David N. Edwards, M.D. Ph.D. F.A.C.C. Advanced Heart Care, PA The Heart Hospital Baylor Plano

Standard part of medical clinic visit Tendencies Ages Early or unusual events

Two copies of every blueprint. One from mom. One from dad. A gene is the blueprint for a protein. Proteins do the work – structure, channels, controls. One typo in one blueprint can cause disease.

Common genetics High blood pressure Coronary disease Atrial fibrillation Rare genetics Dilated cardiomyopathy Hypertrophic cardiomyopathy ARVD

Heart can be either too thick or too thin – or too stiff. Symptoms are due to inability to pump efficiently. Vast majority of CHF patients have dilated cardiomyopathy (DCM)

Prevalance – 36 patients per 100,000 population. Most are ischemic – due to plumbing problems. Others are still explainable. Non-ischemic Remaining were called “idiopathic”. From genedx.com website.

Between 20 and 50% of idiopathic cardiomyopathy is now thought to be inherited. 15% of middle age and older adults have dilated cardiomyopathy with no symptoms.

80-85% cardiac, 15-20% non-cardiac. Primary electrical disease: LQTS, Brugada, ARVD/C, CPVT, WPW, congenital conduction system disease. Unrecognized structural heart disease: HCM, DCM, ARVD/C, myocarditis, congenital anomalies (heart and coronary arteries), CAD. Non-cardiac causes: Aortic rupture, cerebral hemorrhage, pulmonary embolus, respiratory failure.

Copyright © The American College of Physicians. All rights reserved. From: Sudden Cardiac Death: Epidemiology, Transient Risk, and Intervention Assessment Ann Intern Med. 1993;119(12 ): doi: /

(Heart Rhythm 2011; 8:1308 –1339) For dilated cardiomyopathy: Class IIa (can be useful)- Genetic testing can be useful for patients with familial DCM to confirm the diagnosis, to recognize those who are at highest risk of arrhythmia and syndromic features, to facilitate cascade screening within the family, and to help with family planning.

From genedx.com website.