Uncovering Genetic Heart Conditions and Their Risks
Cardiogenetics is a rapidly evolving specialty. Practitioners continue to better understand the underlying genetic markers for various cardiac conditions including arrhythmias, cardiomyopathies, lipid disorders, cardiac complications of neuromuscular conditions and vascular disease. Cardiogenetic testing and counseling can help guide treatment for patients and their family members who may also be predisposed to heart disease.
Genetic Services For Cardiology
Cardiac programs can turn to us for genetics expertise to help determine if a patient or their family members have an inherited cardiac condition and support those patients through their genetics journey.
Real Examples, Real Impact.
A Patient With Dilated Cardiomyopathy
A patient with dilated cardiomyopathy undergoes genetic testing and is found to have a LMNA gene variant, which predisposes them to life-threatening arrhythmias. Identifying this helped inform the patient’s options to treat this condition such as implanting a cardioverter-defibrillator.
A Patient With High Cholesterol Since Childhood
A patient with high cholesterol since childhood is found to have a genetic variant associated with familial hypercholesterolemia. The patient can now access specific treatment while the patient’s children can be tested and begin cholesterol screening and treatment if necessary.
A Teenager Whose Father Suddenly Passed Away
A teenager whose father died suddenly at age 40 has an opportunity to be proactive about their own health risks. Genetic testing was done on a blood sample collected during the father’s autopsy, which indicated a genetic variant associated with long QT syndrome. The teenager was then able to get tested and is now on beta blockers and is monitored by an electrophysiologist.
A Test Changed The Course of Treatment
A middle-aged man presents to his cardiologist with palpitations and is found to have atrial fibrillation and AV block. Cardiac MRI of the patient was indicative of infiltrative disease, suggestive of cardiac sarcoidosis. The patient also underwent genetic testing that revealed a mutation that mimics cardiac sarcoidosis. This changed the course of the patient’s treatment and identified risks to first-degree relatives, which enabled proactive cardiac screening.