![]() ![]() ![]() In drawing the pedigree, it is important to know whether your relatives have been diagnosed with any heart problems, died suddenly or unexpectedly, or have other major medical problems. It is drawn to organize information about the medical history of family members, illustrate who is affected, identify the pattern of inheritance, and identify who is at risk for disease. A pedigree ( Figure 2) is a family tree that shows who has and who doesn’t have the condition of interest. The first step in trying to determine if heart disease runs in your family is to draw a pedigree. On average, half of the members of a family with an autosomal dominant heart condition will develop the disease.ĭoes my family have an inherited heart disease? By the same token, each child has a 50% chance of inheriting the normal copy of the gene and have no risk for developing the condition ( Figure 1). The chance of passing the abnormal copy of the gene to a child is 1 out of 2, or 50%. Therefore, a person with an autosomal dominant condition has one normal copy of the gene and one copy with a mutation. Dominant means that although there are two copies of each gene, a mutation in just one copy is enough to cause disease. Autosomal means that both men and women are equally affected. Most genetic heart conditions are inherited in an autosomal dominant pattern. ![]() Genetic conditions are caused by a change (or mutation) in one or more genes passed from generation to generation. One copy is inherited from your mother and one copy is inherited from your father. We each have more than 20,000 genes, and each gene is present in two copies. Genes provide instructions for cells to make proteins that carry out all body functions and form our physical characteristics. Genes are the basic units of inheritance and are made up of chemicals called DNA. All inherited heart diseases require special attention not only for the individual patient, but also for their family to see if other relatives are in need of medical care. Some of these conditions may require changes in lifestyle or medical therapy. Examples of inherited arrhythmias include Long QT syndrome and Brugada syndrome. There are also inherited heart conditions that affect the electrical system of the heart, causing abnormal heart rhythms called arrhythmias. Examples include conditions that affect the heart muscle, called inherited cardiomyopathies, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). In this Cardiology Patient Page, we describe our approach to this type of inherited heart conditions and genetic testing. There are other less common inherited heart diseases that are caused by just one or very few genetic changes that have a very strong effect in causing disease. In these situations, genetic testing is not yet available. ![]() Some conditions, like high blood pressure or coronary artery disease (blockages in the arteries that supply the heart with blood), run in families but probably result from a number of different genetic changes that individually have a subtle effect, but work collectively in a complex manner to cause disease. Many different types of heart disease can be inherited. Medical conditions that run in a family are inherited or genetic-caused by changes in genes that are passed from generation to generation. ![]()
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