Genetics & Heart Disease

Donald Ferrari, DO,FACC Main Line Healthcare Cardiology in Lionville Candace S. Peterson, MS, CGC Certified Genetic Counselor Cancer Center of Paoli Hospital March 22, 2012

Genetics

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Knowing your family history

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Heart conditions

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Genetic testing

2

Q: Who Is at High Risk of Heart Disease?

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A: Look at the Family History

Top 5 Reasons to Know Your Family History!

5. Because it’s not just recipes that get passed down in families.

4. It's a good way to know your risk for conditions seen in relatives. 3. Because with a little help from the past, you may be able to change the future.

2. It’s a priceless gift to leave to your children.

1. Because every family has a story, but not every family has YOUR story.

Family History

• Obtaining a thorough family history is

key

to helping understand the risk for cardiac disease  A specific pattern of heart conditions in a family may indicate there is a higher risk for developing heart disease

Evaluating Family History

2 Paternal grandfather 2 Paternal grandmother 2 Aunt 1 Father 1 Sister 2 Maternal grandfather 1 Mother 1 Brother 2 Maternal grandmother 2 Uncle 3 First cousin 1 Child

Case Example

Pedigree • Early onset breast cancer • FH of sudden cardiac death • Advanced maternal age 9 years Heart disease P 35 yrs 40 yrs dx. breast ca at 35 d. heart attack

Who are CV Genetic Counselors?

…provide genetic counseling for cardiovascular disease or are involved in research in cardiovascular disease. Genetic counselors who specialize in cardiovascular disease have developed skills specific to the management of and counseling for cardiovascular disorders.

Cardiovascular Disease

• Arrhythmia Syndromes – Atrial Fibrillation – – Brugada Syndrome Long QT Syndrome • Cardiomyopathies – Arrythmogenic Right Ventricular Dysplasia – – – Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Restrictive Cardiomyopathy • • • • • Congenital Heart Disease Coronary Artery Disease or high cholesterol Familial Aortic Aneurysm Individuals with Muscular Dystrophy and Heart Disease Genetic syndromes with associated cardiovascular disease- Marfan syndrome, Noonan syndrome • Individuals with a family history of any of the above mentioned diseases

Case Example

Cardiac screening recommended Clinical genetic testing for Hypertrophic Cardiomyopathy No echo Nml echo P 35 yrs abnl echo HCM 40 yrs dx. breast ca at 35 Nml echo 9 years CHD d. heart attack 27 Autopsy report: Myocyte hypertrophy 5 years Nml echo

Hypertrophic Cardiomyopathy (HCM)

• Disease in which the heart muscle (myocardium) becomes abnormally thick — or hypertrophied • Can make it harder for the heart to pump blood • Prevalence 1 in 500 • Most common inherited cardiac disorder • Major cause of sudden cardiac death (SCD) in competitive athletes

Case Example

Cardiac screening recommended Clinical genetic testing for HCM

MYBPC3,

R502W No echo 9 years kfm kfm + Nml echo 35 yrs abnl echo HCM 40 yrs Nml echo kfm P 3 Fetal and postnatal echo Known mutation testing d. heart attack 27 Autopsy report: Myocyte hypertrophy 5 years Nml echo kfm +

Recommendations for genetic testing in CHD

• Genetic Syndromes • Complex genetic and environmental etiologies • Increasing number of families identified with monogenic CHD

Congenital Heart Disease

• Incidence of 4-8 per 1000 • 70-80% isolated – Increased recurrence risk for families – Attempt to identify etiology • 20-30% CHD associated with extra cardiac features Image Source Page: http://www.cdc.gov/ncbddd/birthdefects/HLHS-graphic.html

Case Example

• 22% recurrence risk for CHD in future pregnancies • 8% recurrence risk for HLHS alone 9 years CHD HLHS Nml echo 35 yrs Nml echo 40 yrs dx. breast ca at 35 d. heart attack P Fetal echo

Heart Disease

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Risk

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Prevention

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Heart-healthy living

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What is MY Risk of Heart Disease

• Risk factors • Short term, 10 year or lifetime risk • Statistical models • Framingham risk score Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Risk Factors

• Smoking • Diabetes • High cholesterol • High Blood Pressure • Sedentary Lifestyle • Age • Gender • Family history Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Family History Matters

• 89 “low risk “ children whose parents had premature heart disease, men < 55 yrs old and women <65 • 38% had evidence of partial blockages • 72% had low HDL (good) cholesterol Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Prevention

• • • • • • Applies to everyone not just those with family history • • Treat risk factors: Don’t start or else stop smoking Exercise Normalize or improve body weight Treat high blood pressure Prevent or treat diabetes Treat high cholesterol Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Is Treating Risk Factors Enough?

• Concept of treating to a goal • How low should my blood pressure be? Usually at least < 140/90 • How low should my cholesterol be? It depends • Is my diet really a healthy diet or just not as bad as it could be?

• Am I exercising enough?

Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Is There a Role for More Advanced Testing?

• Additional cholesterol test • Stress test • CT scan, or a coronary calcium score, to look for early plaque buildup, Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Who Should Take Aspirin for Prevention?

• All individuals with known disease • Those at high risk • Most elderly individuals • Low risk individuals probably don’t benefit Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Main Line Health Care Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Adopt the AHA’s Heart Healthy Lifestyle

• • Stop smoking Be physically active for 30 minutes a day • • Eat a heart healthy diet Maintain a healthy weight • • Manage your blood pressure If you have diabetes, control your blood sugar Main Line Healthcare Cardiology in Lionville Donald Ferrari, D.O., F.A.C.C.

Any Questions? For a physician referral, call 1.866.CALL.MLH

mainlinehealth.org

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