april 1 st, 2013 heart failure education series david n. edwards, m.d. ph.d. f.a.c.c. advanced heart...
TRANSCRIPT
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