FAMILIES & HEART FAILURE -WHAT ROLE DOES GENETICS PLAY?

April 1st, 2013Heart Failure Education Series

David N. Edwards, M.D. Ph.D. F.A.C.C.Advanced Heart Care, PAThe Heart Hospital Baylor Plano

Family History

• Standard part of medical clinic visit

• Tendencies• Ages

• Early or unusual events

Genetics of Cardiovascular Disease:

Family History is Important

• 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.

Family History

• Common genetics• High blood pressure• Coronary disease• Atrial fibrillation

• Rare genetics• Dilated cardiomyopathy• Hypertrophic cardiomyopathy• ARVD

Cardiac Structural Disease

“Typo” in the Myofilament Instructions

CHF – Congestive Heart Failure

• 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)

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.

Unknown cause?• 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.

Sudden Death in the Young• 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 AssessmentAnn Intern Med. 1993;119(12):1187-1197. doi:10.7326/0003-4819-119-12-199312150-00006

(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.

Dedicated CV Genetics Clinics in the U.S. Staffed by

Genetics Counselors