Center for Cardiovascular Genetics | Your Visit

Once we receive your referral, the first step is for you to collect all pertinent medical information and documentation, including results of prior testing, clinic notes, pathology reports, and other records from both you and affected family members. Please send the completed release of information form on both the patient and affected family members to our team via email (Cardiac.Genetics@Cardio.CHBoston.org) or fax (617-730-4601), and our coordinators can assist. A genetic counselor might also ask for a detailed family history before your visit. This allows us to carefully plan your visit and arrange all necessary tests for different family members in a single visit.

Once the information is reviewed, our physicians will determine the appropriate care plan. Our coordinator will reach out and help arrange appointments. We can also help arrange family appointments at both Boston Children’s Hospital and Brigham and Women’s Hospital.

Your visit will be in the Cardiology Outpatient Services clinic on the second floor of the Hale Family Building. All cardiac testing, besides cardiac MRIs, will be completed in the same location. You may meet physicians, nurse practitioners, genetic counselors, our psychologist, and other members of our multidisciplinary team. Here’s what might happen on a visit:

• An examination by a physician, who will also talk with you to learn more about the history of your and your family’s health
• A talk with one of our genetic counselors, who will offer insight on genetic testing, learn more about your family history, and explain the benefits of genetic counseling
• An electrocardiogram (ECG or EKG), a test to measure the electrical activity of your heart
• An echocardiogram (or echo, or cardiac ultrasound), a test that uses sound waves to assess the structure and function of your heart
• Cardiac magnetic resonance imaging (MRI), a test that uses radio waves, magnets, and a computer to take pictures of your heart
• Possibly be asked to wear for 24 hours a Holter monitor, a device that performs an electrocardiogram

Near the end of your visit, we will discuss your test results and create a care plan, which might include further testing and monitoring. Most importantly, we will help you and your family understand your condition and how, possibly through medication and lifestyle changes, you can best manage it.

You can arrange recommended follow-up appointments to monitor your condition at check out or by calling our care coordinators.

We will send your primary physician a letter summarizing the appointment, which you can through the MyChildren’s portal. We know we provide a large amount of information during a clinic visit, so if you have any questions we are always available to further discuss anything by phone (617-355-8794) or email (cardiac.genetics@cardio.chboston.org).

We recommend a variety of internal and external resources for patients and their families:

Arrhythmia

• SADS (LQTS, CPVT, Brugada syndrome, DCM, ACM, HCM)

Cardiomyopathy

• Children’s Cardiomyopathy Foundation

Aortopathies and connective tissue diseases

• The Marfan Foundation
• The Ehlers-Danlos Society

Congenital heart disease

• RASopathies Network
• Noonan Syndrome Foundation
• CFC International
• Costello Kids
• Williams Syndrome Association
• International 22q11.2 Deletion Syndrome Foundation
• Unique Rare Chromosome and Gene Disorders
• The Children’s Heart Foundation
• The Turner Syndrome Society
• Kabuki Syndrome Foundation
• Timothy Syndrome Foundation

Lipid metabolism

• Family Heart Foundation