The identification of genetic markers is becoming increasingly important in the early diagnosis and customized treatment of many inherited cardiac conditions. Indeed, many life-threatening arrhythmias are preventable, if family members are made aware of their risk and take appropriate action.
Hereditary heart conditions take many shapes and forms. Specific gene variations can lead to disorders that weaken the heart muscle (cardiomyopathies) or disrupt normal heart rhythm (cardiac conduction defects such as Long QT syndrome). Abnormalities of the metabolism of certain blood proteins can cause an increased likelihood of developing atherosclerosis and coronary artery disease (dyslipoproteinemias). Some of these conditions have known genetic, and therefore hereditary, components and a family history of one of these conditions can increase your chances of developing that disease.
In fact, patients at risk for hypertrophic and dilated cardiomyopathies, thoracic aortic aneurysms (i.e., Marfan Syndrome) and Long QT syndrome are routinely referred to the Center for Medical Genetics for screening, genetic testing and the recommendation of appropriate interventions. We also provide testing for a number of other cardiovascular conditions, including Brugada Syndrome, Loeys-Dietz Syndrome and thoracic aortic aneurysms and aortic dissections (familial TAAD).
A genetic consultation or even genetic testing for hereditary heart conditions may be appropriate for you, if you have a personal or family history of any of the following:
- An enlarged heart
- Young /sudden deaths or heart disease before age 40
- SIDS (sudden infant death syndrome)
- Fast heart rate or palpitations
- Fainting episodes or dizziness
- Heart failure
- Heart transplant, pacemaker or defibrillator
- History of strokes
- Irregular heartbeat
- Very high cholesterol
- Muscle or skeletal disorder
- Unexplained seizures resistant to standard therapy
- Aortic disease
- Strong family history of any of the above
Rarely does a mutation in a single gene cause hereditary cardiovascular conditions. Family history and cardiac conditions in a family are used to determine the likelihood of a hereditary syndrome and, if a syndrome is suspected, which gene(s) should be analyzed.
It is generally most informative if the individual who has had the cardiac condition is tested first, to determine if an identifiable gene mutation exists in the family. If a mutation is identified in an affected person, at-risk family members may elect to be tested for the familial mutation; those testing positive have a significantly increased risk of developing disease, while those relatives testing negative may be told that they have the general population risk.
At the NorthShore Cardiovascular Institute we are committed to offering our patients highly personalized care to improve outcomes and quality of life. We do this through preventative measures, innovative research and compassionate, multidisciplinary care.