An integral component of cardiovascular medicine
There are various types of inherited heart disease including arrhythmias, congenital heart disease, cardiomyopathy, and high blood cholesterol. Coronary artery disease leading to heart attack, stroke, and heart failure can run in families, indicating inherited risk factors.
Who should be screened?
- Any person that is exhibiting cardiac symptoms or with a family history of cardiac disease.
- Unexplained cardiac arrest or sudden deaths in the family that might have been caused by an undiagnosed heart disease
- Unexplained fainting, or fainting with exercise or emotional stress
- Unexplained seizures, or seizures with normal neurological evaluation
- ICD/pacemaker at under 50 years of age
- Heart failure at less than 60 years of age
- Enlarged heart
- Irregular heartbeat
- Early heart attack, coronary artery disease, or stroke (men under 55, women under 65)
- Enlarged aorta or aortic aneurysm in the chest at less than 55 years of age
- Sudden infant death syndrome (SIDS) in the family
- Untreated very high cholesterol level
- Heart defect present since birth
An individuals’ genetic makeup can influence the risk of heart disease in many ways. Genes control every aspect of the cardiovascular system, from the strength of the blood vessels to the way cells in the heart communicate. A genetic mutation in a single gene can affect the likelihood of developing heart disease. For example, a genetic variation can change the way a protein works so that the body processes cholesterol differently, increasing the likelihood of blocked arteries. Genetic variations are passed from parents to children in the DNA of the eggs and sperm. The parents’ genetic code is then copied into every cell of a child’s body during development.
When a family member is diagnosed with heart disease or a heart disorder, other family members are encouraged to undergo screenings for risk factors and early-stage disease that may not yet produce symptoms.
Inherited conditions that lead to arrhythmias and sudden cardiac death are particularly well understood. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy (ARVC) both can cause deadly arrhythmias. There are several inherited disorders that can cause arrhythmias and sudden cardiac death. Some of these are very rare. They include:
- Arrhythmogenic Right Ventricular Dysplasia
- Brugada Syndrome
- Cardiac Amyloidosis
- Familial Dilated Cardiomyopathy
- Familial Valvular Heart Disease
- Hypertrophic Cardiomyopathy
- Long QT syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Noncompaction Cardiomyopathy
- Restrictive Cardiomyopathy
Identifying these conditions early on can lead to better care and improved health over time. Improved health can come from earlier screenings for certain diseases, changes in lifestyle related to diet and exercise and possibly eliminating risks like smoking.
Hereditary cardiovascular diseases affect more than 1 in 200 people.
Early identification and treatment can be life-saving
For most hereditary cardiovascular diseases, first-degree family members (parents, siblings, children) have a 50% chance of having the same disease-causing genetic variant.
Once a family’s variant is identified, family members can be screened. Negative results eliminate the need for on-going clinical screening for many. Positive results mean at-risk family members can be monitored and treated early.
Cardio Screening: An integral component of cardiovascular medicine
A large number of cardiology disorders are hereditary. They’re very difficult to diagnose without a cardio screen. Cardio screening can also help decide the most effective course of treatment and who else in the family is at risk.
All major cardiology professional societies recommend cardio screening, including:
American College of Cardiology
American Heart Association
Heart Failure Society of America
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