Genetic Heart Disease
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Why choose UCLA Health for genetic heart disease care?
The Cardiovascular Genetics Clinic at UCLA Health brings together expert geneticists and cardiologists. We provide personalized cardiac care to patients and families with genetic or inherited cardiovascular diseases. Our specialists evaluate your genetic risks and help you understand what they mean for your whole family.
Highlights of our program include:
Family-centered care: If you have a known or suspected inherited heart condition, we provide genetic assessments for your entire family. We offer initial screenings and follow-ups to diagnose and treat possible diseases early. Our team includes both pediatric and adult subspecialists who tailor care for your whole family.
Advancing care through research: We believe that research is foundational to improving and advancing cardiovascular care. Our physicians collaborate with a broad research community through the Inherited Cardiovascular Disease Registry. This research involvement helps us better understand the prevention, prognosis and treatment of inherited cardiovascular diseases.
Early diagnoses: We evaluate your genetic risks and counsel your family regarding the implications. Gene panels and exome genetic testing (analyzing large amounts of DNA) help us to diagnose cardiovascular diseases early and offer guidance on prevention.
Genetic heart conditions we treat
Genetic or inherited heart diseases include heart conditions caused by a gene mutation that is present at birth. These gene mutations are hereditary, meaning they are passed down through families. If you or a family member has a known or suspected genetic cardiovascular condition, you may benefit from genetic counseling.
We offer evaluation, counseling and follow-up for a wide range of conditions, including:
These diseases affect the aorta, the largest artery in the body that carries blood away from the heart. Genetic types of aortopathies may include:
Bicuspid aortic valve disease: The aortic valve has two flaps instead of the typical three, which can lead to problems with blood flow to the aorta
Coarctation of the aorta: A narrowed aorta that is present at birth (congenital), which forces the heart to work harder to pump blood to the aorta
Tetralogy of Fallot: A rare combination of four heart defects that are present at birth and cause problems with blood flow. The defects include a ventricular septal defect (VSD), narrowing of the pulmonary valve and artery, and a thick lower right heart chamber (right ventricle). Also, the aorta is not in its normal position. It shifts from the left ventricle to the middle of both ventricles, on top of the VSD.
Cardiomyopathies are diseases of the heart muscle that make it difficult for the heart to pump blood throughout the body. Some types of cardiomyopathies may be genetic, including:
Arrhythmogenic cardiomyopathy: Fat tissue and scar tissue replace heart muscle tissue, leading to irregular heart rhythms (arrhythmias), fatigue or shortness of breath.
Dilated cardiomyopathy: The wall of the heart muscle thins and stretches, leading to fatigue, shortness of breath and swelling in the lower limbs.
Hypertrophic cardiomyopathy: The walls of the heart chamber thicken and stiffen. This often causes no symptoms but may eventually lead to chest pain, shortness of breath or arrhythmias.
Left ventricular noncompaction: A very rare cardiomyopathy in which the lower-left heart chamber (ventricle) doesn’t develop as it should. Pieces of the heart muscle extend into the left ventricle. In babies, symptoms may include excessive sweating or feeding difficulties. Older children and adults may faint, feel short of breath, gain weight or experience rapid heartbeats (heart palpitations).
These genetic disorders are caused by gene mutations that affect a type of protein called ion channels. Channelopathies that affect the heart often cause arrhythmias, or irregular heart rhythms. Types of channelopathies include:
Brugada syndrome: A rare, potentially life-threatening condition that causes a dangerously fast heartbeat
Catecholaminergic polymorphic ventricular tachycardia (CPVT): A condition that causes a too-fast heartbeat or fainting, often after exercise or strong emotional responses
Long QT and short QT syndromes: Conditions that affect the QT interval, the time it takes for the heart to recharge between beats. Long QT syndrome may cause rapid and chaotic heartbeats, while short QT syndrome may cause irregular heartbeats, dizziness or fainting.
Congenital heart disease (CHD)
Congenital heart disease is a term for all problems with the heart’s structure that are present at birth (congenital). Some congenital heart diseases have a genetic link, although not all CHDs are genetic diseases. Many of the conditions treated in our clinic, such as aortopathies, channelopathies and cardiomyopathies, are associated with CHD.
Associated genetic disorders
We also treat genetic disorders associated with heart problems, including:
Athlete’s heart: Heart changes that occur in people who exercise for more than an hour a day. People with athlete’s heart often have an enlarged heart (cardiomegaly), heart muscle thickening (cardiac hypertrophy) and a slower-than-typical heartbeat (bradycardia). Athlete’s heart symptoms can be similar to more severe heart conditions, so it is important to see a specialist for diagnosis and treatment. Our experts can determine if cardiac symptoms and changes are athlete’s heart or a serious genetic condition, such as hypertrophic cardiomyopathy.
Cardiac amyloidosis: A progressive condition that causes amyloidosis, a buildup of a protein called amyloid. In the heart, amyloidosis can cause cardiomyopathy, arrhythmias, a sudden increase in blood pressure upon standing (orthostatic hypertension) or an enlarged heart (cardiomegaly).
Connective tissue disorders: Diseases that affect the network of tissues that support organs throughout the body. Connective tissue disorders may affect the joints, muscles, blood vessels, heart or nearly any other organ system in the body. Genetic connective tissue disorders that affect the heart may include:
Marfan syndrome: A genetic condition that often leads to an enlarged aorta, causing problems with blood flow
Loeys-Dietz syndrome: A genetic condition that usually causes an enlarged aorta and artery twisting, leading to problems with blood flow
Familial hypercholesterolemia: A rare condition that causes high cholesterol and coronary artery disease, raising the risk of a stroke or heart attack
Familial pulmonary arterial hypertension: High blood pressure in the arteries that send blood from the heart to the lungs (pulmonary arteries), often causing chest pain, dizziness or shortness of breath
Familial thoracic aortic aneurysm and dissection (TAAD): A weak spot or bulge (aneurysm) in the portion of the aorta that runs through the chest (thoracic aorta). Weakening in the wall of the aorta can lead to a sudden tear (dissection). If an aneurysm ruptures, it can cause severe artery damage and life-threatening bleeding.
Hemochromatosis: A condition that causes iron buildup in the blood, which can lead to arrhythmias, liver damage or arthritis
Hereditary hemorrhagic telangiectasia: A rare inherited condition that causes irregular connections between blood vessels (arteriovenous malformations), often causing recurring nosebleeds, shortness of breath or headaches
Muscular dystrophy: Diseases in which gene mutations lead to progressive muscle weakening. Some forms of muscular dystrophy may lead to weakening of the heart muscle, or cardiomyopathy.
RASopathies: A rare group of genetic diseases caused by a change in the genes that communicate along the Ras-MAPK pathway in the body. These conditions may cause cardiac problems, growth or developmental delays, neurological problems and gastrointestinal problems.
Common complications of inherited heart diseases
Our specialists also treat complications of genetic heart disease, such as sudden cardiac arrest. During this medical emergency, your heart suddenly stops beating due to problems with the heart’s electrical system. Genetic heart conditions that can cause sudden cardiac arrest include cardiomyopathy, congenital heart diseases and long QT syndrome.
Tests and treatments we offer
Our cardiovascular genetics team offers the full range of testing and treatment options for hereditary heart diseases. Treatment plans may vary widely based on your diagnosis and symptoms.
Our specialists help you find the care plan that is right for you and your family. That plan may include:
- Genetic testing and counseling
- Routine monitoring and imaging
- Medication management
- Interventional cardiology and electrophysiology
- Cardiac surgery
Our cardiovascular genetics team provides targeted, personalized care for patients with inherited cardiovascular diseases. We offer genetic counseling and support for your entire family. Our physicians are clinical leaders and active researchers advancing the field of cardiovascular genetics.