The ColumbiaDoctors Cardiogenetics Program provides genetic evaluation and continued care for individuals and families with known or suspected cardiac conditions. People who have any of the following conditions or have a family history of these conditions could benefit from a genetic evaluation.
- Individuals with a personal or with a family history of cardiomyopathy (hypertrophic, dilated, restrictive, noncompaction, arrhythmogenic right ventricular dysplasia)
- Individuals with a personal or with a family history of an arrhythmia syndrome such as Long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT) and familial atrial fibrillation
- People with a personal history of congenital heart defects
- People with genetic conditions associated with cardiac diseases such as Marfan syndrome, Williams syndrome, DiGeorge (22q11 deletion) and others
- People with neuromuscular or metabolic conditions with associated cardiac problems
- People with a family history of sudden cardiac death, unexplained death, or heart failure at a young age
- People with familial hypercholesterolemia (high cholesterol) and /or atherosclerosis or clogging of the arteries at a young age
- People with a personal or family history of pulmonary arterial hypertension
Our Approach to Cardiogenetics
Before First Visit
Prior to the first visit, we will speak with you to determine what we will need to do on the first visit. We will arrange to have medical records sent to us before you or your child’s visit.
We may also make arrangements either before or after the appointment for you to have an appropriate cardiac evaluation, which may include an electrocardiogram (ECG), echocardiogram (echo), and other cardiac studies if you or your child have not already had these.
During the Visit
During the visit, you or your child will meet with a geneticist and genetic counselor to review the results of the cardiac evaluations and to complete a detailed assessment of the medical and family history. A plan for genetic testing and follow-up will be developed by the geneticist and yourself/family.
We assist with insurance preauthorization for genetic testing and you will be made aware of any out of pocket cost prior to any testing. We work with each patient and family to provide education, support, and counseling during the session and as needed. When appropriate, we can also provide information on reproductive options including preconception and prenatal genetic testing.