What is Inherited Heart Disease?
Inherited heart disease, also known as genetic cardiac disease, encompasses a group of cardiovascular conditions passed down by one’s parents. It is the result of a mutation of one or more genes that can affect people of all ages and be life-threatening.
Types of Inherited Heart Disease
Some common types of inherited heart disease include:
- Cardiomyopathy: In this condition, your heart muscles thicken or become stiff, leading to inefficient pumping of the blood throughout the body. This can lead to fatigue, shortness of breath, and cardiac arrest.
- Arrhythmia: This is characterized by a heartbeat that is either abnormally fast or slow. As a result, the heart may not be able to pump enough blood throughout the body, leading to organ dysfunction or damage. Arrhythmias can include Brugada syndrome, long QT syndrome, and Wolff-Parkinson-White syndrome
- Atrial fibrillation: This condition is characterized by a rapid and irregular heartbeat that disrupts blood supply to the body.
- Marfan Syndrome: This condition weakens the connective tissues in the body, leading to structural problems in the heart and blood vessels (aorta). This can cause dilation of the aorta and sometimes aortic rupture.
- Atherosclerosis: This condition tends to run in families and is characterized by the accumulation of cholesterol and plaque, leading to blockage of the coronary arteries (the blood vessels that supply oxygen-rich blood to the heart muscle).
- Bicuspid Aortic Valve: In this condition, the heart valve leading to the aorta has two flaps instead of three which can lead to leakage or reduced flow.
- Cardiac Amyloidosis: This involves the buildup of amyloid (abnormal protein) in the heart tissue.
- Loeys-Dietz Syndrome: This condition is characterized by enlargement or bulging of the aorta (aneurysm) due to a disorder of the connective tissue.
Symptoms of Inherited Heart Disease
Symptoms of inherited heart disease may vary based on the specific condition and may include:
- Chest pain
- Shortness of breath
Diagnosis of Inherited Heart Disease
Your doctor will review your medical history, family history, and symptoms, and a physical examination will be performed. Your risk for a sudden cardiac arrest is carefully assessed. Your doctor may recommend the following diagnostic tests:
- Electrocardiogram (ECG): This test records the heart’s electrical activity and can assess problems with heart rhythm and rate.
- Stress test: This test records the heart’s electrical activity while you run on a treadmill.
- Echocardiogram: This test uses sound waves to produce images that help detect any defects or enlargement in your heart.
- Transesophageal Echocardiography (TEE): This test uses high-frequency ultrasound waves generated by a device inserted into the esophagus to produce clear images of the heart.
- Computed Tomography (CT) Scan: This scan uses multiple x-rays to produce detailed cross-sectional images of the heart.
- Magnetic Resonance Imaging (MRI) Scan: This imaging study uses a large magnetic field and radio waves to detect any damage to the soft tissues.
- Cardiac Catheterization and Biopsy: A small tube is passed through a blood vessel in the groin and guided up to the heart where various aspects of heart function can be assessed and a small biopsy can be obtained for testing.
Genetic testing is also be recommended and if a defect is identified, other members of the family may also be advised to undergo testing.
Treatment for Inherited Heart Disease
The main goal of treatment for inherited heart disease is to reduce the risk of a heart attack or sudden cardiac arrest. Some common treatment measures include:
- Medications: Your doctor may prescribe antiarrhythmics, anticoagulants, and other medications to regulate the rhythm of your heart, reduce blood clots, relieve pain, and lower blood pressure
- Lifestyle modifications: You are advised to:
- Maintain a healthy weight
- Manage stress
- Perform regular exercise
- Follow a healthy diet
- Quit smoking
- Reduce intake of caffeine
- Avoid or moderate alcohol consumption
If conservative methods fail to improve symptoms, surgery may be recommended, such as the following:
- Implantable Cardioverter Defibrillator (ICD): This is an electronic device implanted under the skin and connected to the heart. It coordinates the contraction of the ventricles and corrects abnormal rhythms.
- Coronary Artery Bypass Graft (CABG): This surgery helps to clear blockages in the coronary artery that supply oxygen-rich blood to the heart muscles.
- Left Ventricular Assist Device (LVAD): This device acts like a mechanical pump to support the weakened heart muscles in patients with heart failure. It helps the left ventricle which pumps blood to the rest of the body.
- Aortic surgery: This is done to repair enlargement of the aorta or defects of the aortic valves.
- Heart transplant: Heart transplantation may be performed on patients with heart failure despite other medical or surgical interventions.