The Cardiovascular Genetics Program has experience with precision diagnosis of heart conditions with a genetic cause that are both rare and common. We also offer niche clinics for targeted care of complex diseases.
Conditions
Aortic stenosis occurs when the large blood vessel that takes oxygen-rich blood from the heart to the body (the aorta) is narrow at the place where the aorta leaves the heart. This makes it difficult for the heart to pump blood to the body and can result in a weak heart muscle or poor blood flow.
Arterial tortuosity syndrome occurs when the large and mid-size arteries are longer and curvier than necessary. It can be associated with connective tissue disorders and narrowing of the arteries around the heart.
Bicuspid aortic valve occurs when the valve to the aorta, a blood vessel that pumps oxygen-rich blood to the body, has two sections rather than three. This condition can put strain on the aorta and/or the heart and cause them to malfunction.
People with familial thoracic aortic aneurysms and dissection are at increased risk for aortic dissection, a potentially lethal condition that occurs when the layers of the wall of the aorta (the blood vessel that carries oxygen-rich blood to the body) split apart.
This condition is characterized by loose skin and disorders of the vascular system, such as curvy blood vessels and narrowing of the blood vessels, both of which increase the risk of blocking blood flow.
Deficiency in the FLNA gene increases a person’s risk for congenital heart diseases, such as patent ductus arteriosus and atrial and ventricular septal defects. It also causes changes in other organ systems, such as the function of the lungs and the intestines.
Loeys-Dietz syndrome is characterized by distinctive facial features and skin findings. The heart can be affected by enlargement of the place where the aorta, the blood vessel that takes oxygen-rich blood to the body, connects to the heart, in addition to other vascular findings.
In Marfan syndrome, the connective tissue that connects layers of tissue together does not develop properly. People with Marfan syndrome are characteristically tall, with long limbs and loose joints. Because of weak connective tissue, some people with Marfan syndrome are at risk for aortic dissection, a potentially lethal condition that occurs when the layers of the wall of the aorta (the blood vessel that carries oxygen-rich blood to the body) split apart.
People with Myhre syndrome often have distinctive facial features, short stature, and mild to moderate intellectual or behavioral disabilities. Heart involvement can include congenital heart defects, weakness of the heart muscle or disease of the tissue that surrounds the heart. Bones and joints can be affected as well.
People with vascular EDS are at increased risk for rupture of the large blood vessels, intestines or the uterine wall. The condition can also be associated with easy bruising, distinctive facial features and joint involvement.
Structural heart disease
Structural heart disease and associated syndromic disorders can have a wide variety of symptoms, including a change to the shape or function of the heart. Texas Children’s Cardiovascular Genetics has experience with many of these conditions, including:
While the hallmark of Alagille syndrome is liver disease, congenital heart disease, such as tetralogy of Fallot, and narrowing of the blood vessels can also occur.
Many chromosomal disorders are also associated with congenital heart disease. Downs syndrome, for example, can be associated with openings between the four chambers of the heart.
DiGeorge syndrome is a genetic disorder that affects many organ systems in the body. It can be associated with several heart defects, including Tetralogy of Fallot and ventricular septal defect.
Fragile X syndrome is most known for causing developmental delay and intellectual disability but can also cause heart valve disorders.
Hold-Oram syndrome is also known as heart-hand syndrome because it causes a distinctive hand shape and is associated with congenital heart defects such as atrial septal defect.
Kabuki syndrome affects many organs of the body and is associated with distinctive facial features, intellectual disability and short stature. Congenital heart defects can also be seen, with atrial and ventricular septal defects being the most common.
There are a variety of syndromes and conditions associated with changes in very short gene segments. Any organ of the body can be affected by these genetic changes.
Noonan syndrome is associated with skeletal abnormalities such as scoliosis, short stature and bleeding disorders, as well as congenital heart defects such as pulmonary valve stenosis.
The genetic changes in Potocki-Lupski syndrome often result in weak muscle tone and difficulty swallowing. Serious congenital heart defects can also be associated with this syndrome.
Tuberous sclerosis is characterized by skin changes and noncancerous tumors that can grow on many organs of the body. People with tuberous sclerosis can be at increased risk for seizure disorders.
Williams-Buren syndrome can lead to neurodevelopmental disabilities and endocrine abnormalities. Congenital aortic stenosis can also be associated with this syndrome.
Genetic rhythm disorders
If you have a genetic cause, or suspected genetic cause, for a disorder of your heart rhythm, the Cardiovascular Genetics Program is your resource for compassionate and effective care. We manage several genetic rhythm disorders, including:
Arrhythmogenic right ventricular dysplasia results in changes to the wall of the right lower chamber of the heart, or ventricle, that increase the risk of deadly heart rhythms.
Brugada syndrome is a rare condition in which the heart has an increased likelihood of entering a dangerous rhythm, such as ventricular tachycardia.
Catecholaminergic polymorphic ventricular tachycardia causes symptoms such as syncope or sudden cardiac arrest due to fast, irregular rhythms that result from exercise or strong emotions.
Long QT syndrome is a subtle change in the electrical conduction of the heart rhythm that carries an increased risk of converting from the heart’s normal rhythm to a dangerous abnormal rhythm.
When TANGO2 deficiency affects the heart, it can cause weakness in the heart muscle (cardiomyopathy) or dangerous irregular heart rhythms.
