There are many stages during a patient’s routine medical care when there is an opportunity to identify their risk for a broad range of inherited cardiovascular diseases and modify interventions to change outcomes. Our team is led by Amy Kontorovich, MD, PhD, a genetic cardiologist and physician-scientist. Other members of the team include Bruce D. Gelb, MD (pediatric cardiologist), Andrea Racines, NP (nurse practitioner), Mafalda F. Cabral Dos Santos Barbosa, MD (medical geneticist), and Veronica M. Fettig, MS, CGC (genetic counselor).
Currently, most of our patients are referred to us by cardiologists and cardiovascular specialists who suspect that there is a genetic component to the patient’s condition. This may be due to the symptoms they exhibit, or there may be an indication because of the patient’s family history.
Confirmation or Clarification of Diagnoses
Other heart patients may be referred to us as a precaution, even if no genetic cause is suspected. There is a value to confirming a cardiac diagnosis through genetic testing because in some cases, the patient’s symptoms may be masking the true cause or a “stealth condition,” which may be inherited. For instance, the outward manifestations and the cardiovascular behavior of Marfan syndrome can be mimicked by other conditions. Sometimes, the only way to differentiate Marfan syndrome from similar conditions is through a genetic test. The genetic results can determine the course of treatment, such as the timing of a surgery or medication. For instance, with Marfan syndrome, the criteria for surgery on an aortic aneurysm are based on a different size than for other conditions. There is also a medication that can slow the progression of Marfan syndrome. This determination can make a big difference in the patient's life because it can significantly change the point when surgery is needed.
Patients with a Family History of Heart Disease
Other patients seek us out directly for preventive measures because they may have a family member with a hereditary cardiac disease. The patient may not have any symptoms, but perhaps has a close relative such as a sibling or parent who does. We work with the whole family to estimate the risk to each family member.
We also help families who are trying to conceive when there is a potentially genetic diagnosis in one of the parents. Working with fertility specialists, this information can be used for pre-implantation or prenatal genetic testing. We also evaluate pregnant women for the risk of peripartum cardiomyopathy, a rare form of heart failure that can happen in the last month of pregnancy or up to five months after giving birth.
Determining the Cause of Sudden Death
Families also consult with us when there is a sudden death in which genetic cause may be suspected. For instance, if a young person dies unexpectedly of an aortic dissection, or the autopsy reveals an enlarged heart, a genetic cause might be suggested. In situations like these, or if the autopsy is unable to identify a clear cause of death, a post-mortem molecular autopsy can not only provide answers to the family but help alert them to possible inherited risks throughout the family.
The Patient Visit
Our first step is to conduct a careful and detailed assessment by phone of the medical history of each patient’s family. A genetic counselor may spend up to an hour with you, discussing and mapping out the full medical history of your family, including imaging results, medical records, and even autopsy results. Whatever information you don’t know or need to gather can be obtained before you come in for a visit.
In some cases, the visit itself can be conducted as a telehealth visit. If we have all the necessary medical records and imaging results, we may not need to see you in the office. In other circumstances, a physical evaluation may be necessary.
In cases where we recommend genetic testing, we can do this on a blood or a saliva test. In situations where patients don’t need to come into the office, we may mail a saliva kit to you with postage-paid packaging to return the sample. In the office, we may take a blood sample.
Conditions We Diagnose
Whether it’s confirmation of a suspected diagnosis or providing valuable health information to patients who are well but at risk, the Center can detect a broad range of inherited cardiovascular conditions—from the everyday to the rare. These include but are not exclusive to:
Arrhythmia is an irregular heartbeat that occurs when the electrical impulses in the heart don’t work properly. There are many arrhythmic disorders, some of which can be inherited.
- Long QT syndrome
- Brugada syndrome
- Idiopathic ventricular tachycardia
Disorders leading to aneurysms and/or dissections of the aorta or other arteries can be inherited.
- Hereditary aortic aneurysms and dissections
- Marfan syndrome
- Loeys-Dietz syndrome
- Vascular Ehlers-Danlos syndrome
Often called heart muscle disease, cardiomyopathy can be inherited and make it difficult for the heart to deliver blood to the rest of the body, resulting in heart failure.
- Arrhythmogenic cardiomyopathy
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Peripartum cardiomyopathy
Connective Tissue Diseases
There are many types of connective tissue disorders that are inherited, and in addition to affecting joints, bones, and skin, some affect the heart and blood vessels.
Lipid disorders cause an abnormal amount of lipids, or fats, in the blood and many can be inherited diseases.
- Familial Hypercholesterolemia
- High Triglycerides
Systemic Disorders Involving the Heart
Some heart disorders can be caused by disease in other organs, such as the liver, kidneys, or systemic infection. Genetic testing can help diagnose some of these conditions, even when the patient doesn’t show symptoms.
- Transthyretin (TTR) cardiac amyloidosis
- Fabry disease
In order to identify trends and gain a better understanding of these disorders, we maintain genomic registries for a broad range of inherited cardiovascular conditions. Patient who are registered can keep up to date on the latest developments by enrolling.
- Hypertrophic cardiomyopathy
- Hypermobile Ehlers-Danlos syndrome