Familial Heart Disease

There are many heart conditions that can be considered as having a familial or genetic link. However, three of the most common conditions are: Hypertrophic Cardiomyopathy, Marfan Syndrome and Bicuspid Aortic Valve.

  • Hypertrophic CardiomyopathyOccurs when the heart muscle fibers enlarge abnormally, causing the heart walls to thicken, which leaves less space for blood in the chambers. It can affect men and women of any age and is a cause of sudden cardiac arrest in young people, especially young athletes.
  • Marfan SyndromeIs a connective tissue disorder that affects the heart and blood vessels, making them more susceptible to developing aneurysms. 
  • Bicuspid Aortic Valve Disease- Is a congenital disorder that occurs in 1-2% of the population. It occurs in men more than women. Instead of having a normal three leaflet valve, the patient with bicuspid aortic valve has only two leaflets. The bicuspid aortic valve can be a result of two of the leaflets merging together.

Signs and Symptoms of Familial Heart Disease

Sign and symptoms of familial heart disease vary based on the condition. Common sign and symptoms include:

  • Hypertrophic Cardiomyopathy
    • Chest pain
    • Shortness of breath
    • Fatigue or exercise intolerance
    • Palpitations
    • Dizziness
    • Fainting
  • Marfan SyndromeHaving a combination of the following may indicate Marfan Syndrome.
    • Long arms, legs and fingers
    • Tall and thin body type
    • Curved spine (scoliosis)
    • Sunken or protruding chest
    • Extremely flexible joints
    • Flat feet
    • Crowded teeth
    • Unexplained stretch marks on the skin
  • Bicuspid Aortic Valve Disease
    • Chest pain
    • Shortness of breath
    • Fatigue
    • Palpitations

Risks and Causes of Familial Heart Disease 

Hypertrophic cardiomyopathy, Marfan syndrome, and bicuspid aortic valve disease are the result of a genetic mutation and as a result there is a 50% chance of passing the gene to your children.  

Genetic testing is recommended to those individuals with hypertrophic cardiomyopathy and marfan syndrome.  If a gene mutation can be isolated in an individual then it is recommended that immediate family members also get gene tested and have yearly screenings with an echocardiogram. This allows healthcare professionals to prevent potential health problems from progressing. 

Diagnosing Familial Heart Disease

The process of diagnosing familial heart disease may vary based on the condition. Diagnostic techniques include:

  • Hypertrophic Cardiomyopathy
    • Echocardiogram
    • Electrocardiograph testing
    • Stress testing
    • Laboratory testing
    • Genetic testing
  • Marfan Syndrome
    • Echocardiogram
    • Laboratory testing
    • Cardiac MRI
    • Cardiac Catheterization
    • CT Scan
  • Bicuspid Aortic Valve Disease
    • Echocardiogram
    • Cardiac MRI

Treating Familial Heart Disease

Recommended lifestyle changes for patients with familial heart disease include:

  • Avoid smoking
  • Avoid alcohol
  • Avoid caffeinated beverages
  • Follow a low fat, low salt diet
  • Regular physical activity done in moderation, avoid high intensity sports and weight lifting
  • Maintain a healthy weight

Specific treatments for types of familial heart disease include:

  • Hypertrophic Cardiomyopathy
    • Medications such as diuretics, ACE Inhibitors, Beta Blockers
    • Alcohol Septal Ablation to improve blood flow through the heart and out of the body
    • Endocardial Myoectomy: surgery to remove part of the thickened wall separating the heart’s chambers
    • A cardioverter defibrillator (ICD) for patients at risk for sudden cardiac death
  • Marfan Syndrome
    • Blood pressure control using medications such as: Calcium Channel Blockers, Beta Blockers, ACE Inhibitors or Angiotensin II Receptor Blocker
    • Surgical repair of aneurysms before they rupture
  • Bicuspid Aortic Valve Disease
    • Blood pressure control using medications such as: Calcium Channel Blockers, Beta Blockers, ACE Inhibitors or Angiostensin II Receptor Blocker (ARB)
    • Surgical repair or replacement of the valve. 

Why Choose Aurora for Familial Heart Disease Treatment?

Aurora Health Care has a clinic dedicated to the treatment of familial/genetic caused heart conditions. We use multi-disciplinary teams to treat patients with familial/genetic heart conditions. The Hypertrophic Cardiomyopathy Center and Center for Marfan & Aortic Disorders provide specialized heart care to patients.