Genetic testing for inherited cardiac conditions is recommended by several medical societies including the American Heart Association, American College of Cardiology, and Heart Rhythm Society.

What is CARDIOMYOPATHY?

  • Definition

    A disease of the heart muscle resulting in lower overall efficiency due to a reduced ability to pump blood or maintain a normal heart rhythm.

  • Incidence: higher than 1 in 500 individuals

    HCM: 1 in 500
    DCM: 1 in 2500

  • Cardiomyopathy risk factors:

    Long-term Hypertension
    Coronary Artery Disease
    Uncontrolled Heart Rhythm
    Infection
    Metabolic Disorders
    Nutritional Deficiencies
    Genetics

  • Cardiomyopathy symptoms

    Chest Pain
    Cough
    Syncope
    Dyspnea
    Fatigue
    Palpitations or Arrhythmias
    Swelling in The Ankles and Feet
    Heart Failure
    Sudden Death

What is ARRHYTHMIA?

  • Definition

    Causing an irregular heart rhythm caused by abnormal electrical activity.

  • Incidence: up to 1 in 1000 individuals

    LQTS: 1 in 2000
    Brugada: 5 in 10000
    CPVT: 1 in 2000

  • Arrhythmia risk factors

    Heart Disease
    High Blood Pressure
    Stress
    Caffeine
    Smoking
    Alcohol Use
    Certain Medications
    Genetics

  • Arrhythmia symptoms

    Palpitations
    Slow or Irregular Heart Beat
    Dizziness
    Near-Syncope or Syncope
    Chest Pain
    Sudden Death

WHO/WHY GET TESTED?

  • Risk Insight – You May Be At Higher Risk If…

    A personal or family history of any of the following might be appropriate for testing:

    Unexplained arrhythmia
    Cardiomyopathy or enlarged heart
    Sudden and unexplained cardiac arrest
    Unexplained syncope and/or syncope with exercise or emotional distress
    Implantable Cardioverter Defibrillator (ICD) or Pacemaker placement at <50 years of age
    Sudden infant death syndrome (SIDS)
    Heart failure and/or transplant
    A family member with one of the above conditions whose genetic cause is already known

  • Why Should Patients Get Tested?

    Testing can provide patients better understand potential future cardiac risks, and take action through tailored and proactive medical management plans. Other benefits of genetic testing may include:

    Establish or confirm a specific diagnosis
    Provide an explanation of the underlying cause of your heart condition
    Uncover potential risk of developing an underlying, multisystem condition that affects more than your heart
    Make informed medical decisions and provide an opportunity to start risk reduction strategies
    Identify other at-risk relatives for whom genetic testing is recommended
    Make informed family planning decisions