Cardiovascular Genetics Clinic
Providing Care Through the Diagnosis and Treatment of Your Child’s Genetic Cardiovascular Condition
Cardiovascular Genetics Clinic
The Cardiovascular Genetics clinic offers a detailed evaluation by a multidisciplinary team of geneticists, cardiologists, nurse practitioners, and genetic counselors, who use genetic and genomic information to diagnose and treat inherited cardiovascular conditions. We provide care to the individual patient and assess the potential impact of their condition on their family, including advice, evaluations and possible treatment of the inherited disease in relatives. Our team accomplishes this through a detailed clinical evaluation, advanced diagnostic imaging of the heart and cardiovascular system, and detailed genetic and genomic testing. Once a diagnosis is made, our focus is on preventative health care by regular surveillance and active management of the condition.
The mission of the Cardiovascular Genetics Clinic is to provide comprehensive clinical care by an experienced team with specific interest and knowledge of genetic diseases that affect the heart and the blood vessels, in order to improve the outcomes of these diseases.
We care for individuals across all ages who have an inherited cardiovascular condition (heart or blood vessel) or who may be at risk of developing an inherited cardiovascular condition. Our multidisciplinary team provides:
- Diagnostic evaluations for patients with known or suspected genetic heart and large blood vessel diseases,
- Genetic counseling for patients and families with genetic heart conditions, and
- Management of inherited cardiovascular conditions
Services We Offer
Services we offer include:
- Evaluation and management of genetic and genomic cardiovascular disorders
- Genetic counseling services for patients and family members
- Marfan screening evaluation
What to Expect at Your First Visit
- Review family history information with a genetic counseling assistant before your appointment
- Have a non-invasive heart test like an electrocardiogram (which check heart beats or rhythm) or an echocardiogram (an ultrasound to look at heart structure)
- Meet with several healthcare providers for an evaluation, which includes reviewing your medical history, any heart tests, and a physical exam
- Discuss possible genetic causes and, if recommended, discuss and coordinate genetic testing
A cardiovascular genetics consult starts with a phone call from a genetic counseling assistant. The assistant will gather information about the reason for the visit, obtain a detailed history of any problems in the family (which is called a pedigree) and possibly request medical records from other providers or hospitals. Sometimes, the assistant may need sensitive information. During this first contact, if you do not want to come for a full visit or have concerns about sharing sensitive information, please let us know.
The first appointment will take about two hours. If the person who is referred is a child, they MUST come to the visit. Plan to arrive at least 30 minutes before your appointment to allow ample time to get registered, complete forms and have measurements taken (height, weight, blood pressure). Sometimes the person being evaluated will need to have a non-invasive heart test like an electrocardiogram (which checks heart beats or rhythm) or an echocardiogram (an ultrasound to look at heart structure).
You will meet with several healthcare providers at this visit. This may include a genetic counselor, a genetic nurse practitioner, a genetic physician and a pediatric cardiologist.
A consult with cardiovascular genetics is more than having genetic testing. It includes a full assessment that consists of taking a detailed history, reviewing medical records, possibly having heart tests, and performing a complete physical exam. We will discuss possible conditions, provide genetic counseling and review what may be needed to establish a diagnosis. A decision about whether testing is recommended, and what kind of tests should be performed, will be discussed at the first visit.
In most cases, genetic testing will not be done at that time. If testing is recommended, we will work with your insurance to get prior authorization and let you know when to return for genetic testing.
A return visit with the cardiovascular genetics team is often needed when test results are available. Our team will go over what the results mean and discuss any next steps. Genetic counseling will be provided at every step to ensure you understand what the results mean for the patient and family. Patients with inherited heart conditions may have other blood family members who either have or may be at risk to develop similar heart problems, so a cardiovascular genetics evaluation may be offered to other family members. Finally, any additional tests will be ordered, and a care plan with specific treatments, if available, will be made.
Conditions We See
- Cardiomyopathy (inherited conditions of abnormal heart muscle)
- Channelopathy (inherited arrhythmias)
- Aortopathies (Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers Danlos syndrome)
- Noonan syndrome and other associated conditions (RASopathy)
- Congenital heart defects associated with genetic conditions
- Williams Syndrome
- 22q syndrome
Research
Conditions We Treat
- Cardiomyopathy and Your Child
- Congenital Heart Disease
- Diseases of the Aorta
- Inherited Heart Rhythm Disorders
- Noonan Syndrome and other RASopathies