Genetic Disorders
Know your heart history.
Navigate your future with knowledge and solutions.
Overview
Genes control every aspect of the cardiovascular system, from the strength of the blood vessels to the way cells in the heart communicate. A genetic variation (mutation) in a single gene can affect your risk of developing heart disease, such as cardiomyopathy, high cholesterol, coronary artery disease, aortic aneurysm and dissection and arrhythmia.
Parents may pass genetic variations to their children in the DNA of the eggs and sperm. The parents' genetic code is then copied into every cell of a child's body during development. St. Luke's offers genetic testing to detect the presence of genes that increase your risk for heart disease and genetic counseling to understand the meaning of test results.
Conditions we treat
Adult congenital heart disease
Adults with congenital heart disease continue to need care throughout their lives. These patients are best served by experts who understand their complex and unique needs. St. Luke’s Adult Congenital Heart Disease program helps patients with congenital heart disease monitor their condition, manage medications and make the lifestyle changes needed to lead active lifestyles. For patients who require surgery, St. Luke’s team is highly skilled at traditional and minimally invasive approaches to repair complex forms of congenital heart disease.
Although many congenital heart diseases are discovered at birth or during childhood, some are not diagnosed until adulthood and others may worsen with age. Some of the adult congenital heart diseases we treat include:
- Atrial and ventricular septal defects
- Anomalous pulmonary veins
- Coarctation of the aorta
- Congenital valve defects
- Ebstein anomaly
- Fallot’s tetralogy
- Marfan’s syndrome and other connective tissue disorders
- Managing pregnancy in adults with congenital heart disease
- Patent ductus arteriosus
- Patent foramen ovale
- Pulmonary artery stenosis
- Transposition of the great arteries
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy is an inherited condition that causes thickening of the walls of the left ventricle, the main pumping chamber of the heart. In some people, the heart becomes stiff and cannot fill properly or pump enough blood to provide an adequate supply to the body, particularly during exercise. In others, blood flow from the heart is obstructed. This condition may be associated with irregular heart rhythms.
Marfan syndrome
Marfan syndrome is a genetic condition affecting connective tissue. Connective tissue holds the body's cells, organs and tissues together and plays a vital role in helping the body grow and develop properly. The disorder's features are found most often in the heart, blood vessels, bones, joints and eyes. Some Marfan features can be life-threatening, such as enlargement of the aorta, the body's main artery. The lungs, skin, and nervous system may also be affected.
Marfan syndrome affects about 1 in 5,000 men and women of all races and ethnic groups. About three quarters of people with Marfan syndrome got the mutation from a parent. A person with it has about a 50% chance of passing the syndrome on to a child.
Treatments
Cardiac genetic testing
Cardiac genetic testing involves taking a sample of your DNA, typically blood or saliva, to a laboratory to identify or rule out the presence of gene variants known to cause inherited disease. Often, a panel of multiple genes known to cause the specific inherited condition of interest is evaluated to identify variations. Sometimes, a single change in one gene can cause disease. While the process may begin with your sample, having additional family members tested can help determine the presence of familial patterns.
St. Luke's performs genetic testing in conjunction with genetic counseling. Before testing, the counselor can help you decide if it is right for you. The genetic counselor will discuss personal health history, medications and family history. After testing, the counselor and your heart care team will ensure that you understand the results and help you determine what steps you can take to lower your risk.
