Inherited Heart Problems

Inherited heart problems are those that have been passed on through our parents’ genes. They are caused by a mutation or fault of one or several genes. When one of the parents has a faulty gene, there is a 50% chance that you inherited it. If you did, then there is also a 50% chance that you would pass it to your children.

Inherited heart problems may often cause no symptoms, but at the same time can be life-threatening,   affecting people of any age. A person may have a faulty gene and never develop any symptoms of the condition itself. Still, if the same faulty gene has been passed to his child, the child may develop symptoms. Most of the people, however, are unaware that they have inherited heart problems and, unfortunately, the first time a family becomes aware of being affected is after a sudden cardiac death.

The most common inherited heart problems are:

Heart muscle conditions or cardiomyopathies, which affect the heart’s physical structure and interfere with the heart’s ability to pump blood:

• Restrictive cardiomyopathy
• Dilated cardiomyopathy
• Hypertrophic cardiomyopathy
• Arrhythmogenic right ventricular cardiomyopathy
• Left ventricular non-compaction cardiomyopathy.

These heart muscle conditions can oftentimes result in various degrees of heart failure.

Heart rhythm disturbances or arrhythmias, which affect the electrical system of the heart and its ability to properly squeeze and relax:

• Long QT syndrome
• Short QT syndrome
• Brugada syndrome
• Progressive cardiac conduction defect
• Catecholaminergic polymorphic ventricular tachycardia
• Sudden arrhythmic death syndrome.  

Inherited arrhythmias can result in rapid heartbeat, dizziness, lightheadedness, fainting or sometimes even sudden death.

Very high cholesterol levels, where an abnormal gene leads to a high cholesterol level, specifically very high LDL (bad cholesterol) levels, which leads to cholesterol buildup in the arteries and plaque formation, resulting in atherosclerosis:

• Familial hypercholesterolemia.

Accelerated deposition of cholesterol in familial hypercholesterolemia leads to heart disease in early life, resulting in heart attacks, angina pectoris and occasionally strokes, often as early as at the age of 20.  

Structural abnormalities of the aorta, which affect transportation of oxygen-rich blood to the upper and especially lower parts of the body:

• Aortic valve stenosis
• Coarctation of the aorta.
• Aortic abnormalities can cause high blood pressure or heart damage.

Marfan syndrome. This is an inherited condition of the body’s connective tissues that provide support to other organs and tissues. Most dangerous features of this syndrome are enlargements of the aorta and defects of the heart’s mitral valve.

Family members share not only genes but behaviors, lifestyles, and environments that can influence their heart health. Thus, the risk for coronary artery disease increases when heredity combines with unhealthy lifestyle choices, such as unhealthy diet, physical inactivity or smoking. The more risk factors you have, the more likely you are to develop heart problems, and even though you can’t change your genes, there is plenty you can do to reduce the risk and protect your heart.

Following the pattern of the heart problem that runs in your family can help physicians predict the likelihood of you having the same condition. Moreover, genetic testing is becoming increasingly available for inherited heart problems. A blood test can now be performed to detect all known inherited heart problem genes, boosting the prospect of diagnosing potentially fatal defects and helping people to obtain appropriate treatment.

Knowing your family history, identifying family members with faulty genes and detecting heart disease early can help avoid fatal cardiac problems and take steps to minimize the risk of complications. Medications, lifestyle changes or surgery, in particularly severe cases, can help you and your family members live a normal life with an inherited heart problem.