Transcript Employee Engagement

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?
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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
2
2
Paternal
Paternal
grandfather grandmother
2
Maternal
Maternal
grandfather grandmother
2
1
1
2
Aunt
Father
Mother
Uncle
3
1
1
Sister
Brother
1
Child
First cousin
Case Example
Pedigree
• Early onset breast
cancer
• FH of sudden
cardiac death
• Advanced
maternal age
35 yrs
P
9 years
Heart disease
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
d. heart attack
27
35 yrs
P
9 years
CHD
40 yrs
abnl echo
dx. breast
HCM
ca at 35
Nml echo
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
Nml echo
d. heart attack
27
40 yrs
Nml echo
35 yrs
abnl echo
HCM
P
9 years
kfm -
kfm +
Autopsy report:
Myocyte hypertrophy
kfm 3
Fetal and postnatal echo
Known mutation testing
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
35 yrs
40 yrs
Nml echo dx. breast
ca at 35
P
9 years
CHD
HLHS
Nml echo
Fetal echo
d. heart
attack
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 1.866.CALL.MLH
mainlinehealth.org
For more Heart Health Webinars, visit mainlinehealth.org/webinars