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

2 Genetics Knowing your family history Heart conditions Genetic testing

Q: Who Is at High Risk of Heart Disease?

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 l A specific pattern of heart conditions in a family may indicate there is a higher risk for developing heart disease

Evaluating Family History Child Brother Sister Father Mother Uncle First cousin Maternal grandmother Maternal grandfather Paternal grandmother Paternal grandfather Aunt

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

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

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

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

P 40 yrs d. heart attack yrs 9 years kfm - Autopsy report: Myocyte hypertrophy 5 years Cardiac screening recommended Nml echo abnl echo HCM No echo Nml echo Clinical genetic testing for HCM MYBPC3, R502W kfm + kfm - kfm + Fetal and postnatal echo Known mutation testing 3 Case Example

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 % isolated –Increased recurrence risk for families –Attempt to identify etiology 20-30% CHD associated with extra cardiac features Image Source Page:

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

17 Heart Disease Risk Prevention Heart-healthy living

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 CALL.MLH mainlinehealth.org For more Heart Health Webinars, visit mainlinehealth.org/webinars