Genetic Heart Disorders

Signs and Symptoms

There are certain features of a family history that may be signs of a genetic heart disorder. Some of these include:

• Sudden cardiac death, unexplained death at a young age, or death by an unexplained accident or drowning.
• Heart failure at a young age (under 50). Signs of heart failure include shortness of breath, fatigue, weakness, difficulty with exercise and "asthma" that doesn't improve with an inhaler.
• Palpitations or an abnormal heart rhythm at a young age.
• Fainting, black-outs, or seizures that couldn't be treated with typical seizure medications.
• More than one relative with the same type of heart disease.

Diagnosis

Genetic Counseling

Genetic counseling is a key part of an evaluation for genetic heart conditions at the UCSF Program in Cardiovascular Genetics.

Having a genetic heart condition can bring up difficult emotions, including fears about sudden cardiac death, confusion about new diagnosis and worries about passing the condition on to other family members. The genetic counselor helps families cope with their diagnoses of a genetic heart condition and adjust to the related personal, emotional and family implications.

Genetic Testing

Genes are what make you similar to your family. Problems in genes can cause diseases that multiple people in a family can develop. Since heart disease can be a genetic disorder, if heart problems run in your family, genetic testing can be done to see if you carry a gene for a specific disorder.

Genetic Testing for ARVD

The goal of genetic testing is to identify the genetic change causing Arrhythmogenic Right Ventricular Dysplasia (ARVD) in a family and then find out who else in the family inherited that genetic change. When the first person in a family is tested we check for four of the most common ARVD-causing genes for a genetic change. This should identify the genetic cause in about half of families. In the other half, we cannot find the cause since it's likely that the gene has not identified yet.

Genetic Testing for HCM

Genetic testing can help identify the genetic change causing hypertrophic cardiomyopathy (HCM) in a family. When the first person in a family is tested the person is typically checked for eight of the most common HCM-causing genes for a genetic change. About 60 to 70 percent of the time this type of genetic testing will identify the underlying genetic change. In the other 30 to 40 percent of families HCM the genetic cause can't be found.

If genetic testing shows that you do carry the genetic change that causes HCM in the family then you are at increased risk for developing the symptoms and changes in the heart that are associated with HCM. This knowledge can help you make choices to preserve your health, such as avoiding strenuous exercise, which can make HCM worse and seeking regular care with a cardiologist.

Genetic Testing for Marfan Syndrome

Genetic testing can identify the mutation in the FBN1 gene in most but not all cases. This test can help confirm the diagnosis of Marfan syndrome. It can also identify the genetic cause. Once the cause has been found in someone with Marfan syndrome, other people in their family, including their future children, can be tested to see if they also carry the FBN1 mutation.

Genetic Testing for Long QT Syndrome

Genetic testing is available for long QT syndrome. This test looks at the genes associated with long QT syndrome to see if a genetic change can be identified. Genetic testing for long QT syndrome can also help determine if other members of the family, or your future children inherited the disorder. Genetic testing can also determine which sub-type of long QT syndrome your family has. The sub-types differ in their response to treatment. Unfortunately, this testing doesn't always find the cause of long QT syndrome. In 25 to 30 percent of families, testing doesn't find the genetic cause for long QT syndrome.

Treatment

The Program in Cardiovascular Genetics at UCSF has specialized clinics to help patients and their family members with genetic heart conditions.

Familial Cardiomyopathy Clinic

The UCSF Familial Cardiomyopathy Clinic cares for individuals and families with familial cardiomyopathies including hypertrophic cardiomyopathy (HCM) and familial dilated cardiomyopathy.

In this clinic, individuals with cardiomyopathies and their family members can be evaluated and treated. The philosophy of the program is to provide the best care for cardiomyopathy patients and their families through a team of experts who can help with the diagnosis of the individual patient, provide expert disease management and family outreach.

HCM is an inherited disease of the heart muscle. HCM can cause the wall of the heart muscle to thicken. When the walls get too thick, the heart muscle functions inefficiently, causing some patients to have obstruction to blood flow from the heart. HCM is also associated with abnormal heart rhythms, which can sometimes be life threatening.

Marfan Clinic

Through this clinic, individuals who have, or may have Marfan syndrome can be evaluated and cared for by all the different specialists they need, in a coordinated manner, on one day. Since Marfan syndrome is a genetic condition that can affect the heart, the eyes, and the spine, people with Marfan syndrome need to seen doctors in genetics, ophthalmology, orthopedics and cardiology. The team of specialists evaulates and treats families with Marfan syndrome and other diseases of the aorta.

Marfan syndrome is a rare, inherited disorder of the connective tissue. Since connective tissue is found throughout the body, the disease affects several different parts of the body, including the heart and blood vessels, bones, joints and eyes.