What Role does genetics play April 1 st 2013 Heart Failure Education Series David N Edwards MD PhD FACC Advanced Heart Care PA The Heart Hospital Baylor Plano Family History ID: 265169
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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, PA
The Heart Hospital Baylor PlanoSlide2
Family HistoryStandard part of medical clinic visitTendencies
AgesEarly or unusual eventsSlide3
Genetics of Cardiovascular Disease:Family History is ImportantTwo 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.Slide4
Family HistoryCommon geneticsHigh blood pressureCoronary disease
Atrial fibrillationRare geneticsDilated cardiomyopathyHypertrophic cardiomyopathy
ARVDSlide5
Cardiac Structural DiseaseSlide6
“Typo” in the Myofilament InstructionsSlide7
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)Slide8
Dilated Cardiomyopathy (DCM)Prevalance – 36 patients per 100,000 population.
Most are ischemic – due to plumbing problems.Others are still explainable.Non-ischemicRemaining were called “idiopathic”.
From genedx.com website.Slide9
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.Slide10
Sudden Death in the Young80-85% 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.Slide11
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
):1187-1197. doi:10.7326/0003-4819-119-12-199312150-00006Slide12
(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.Slide13
From genedx.com website.Slide14
Dedicated CV Genetics Clinics in the U.S. Staffed by Genetics Counselors