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URL of this page: https://medlineplus.gov/genetics/condition/nonsyndromic-dilated-cardiomyopathy/

Nonsyndromic dilated cardiomyopathy

Description

Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. 

Dilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  

The signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). 

Over time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.

Frequency

Dilated cardiomyopathy may affect as many as 1 in 250 people. In approximately 30 to 50 percent of these cases, there is a family history of the condition. 

Causes

Variants (also called mutations) in more than 20 genes have been found to cause nonsyndromic dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes. 

Many of these proteins play important roles in the tensing (contraction) of the cardiac muscle through their association with structures called sarcomeres. Sarcomeres are made of proteins that generate the mechanical force needed for muscles to contract; they are the basic units of contraction. Other proteins that are associated with nonsyndromic dilated cardiomyopathy make up the structural framework (the cytoskeleton) of cardiomyocytes. The remaining proteins have various roles within cardiomyocytes to ensure that these cells function properly.

A genetic cause is found in approximately 25 to 35 percent of people with dilated cardiomyopathy. A genetic cause is more likely to be found in individuals who have affected family members.

Variants in one gene, TTN, account for approximately 15 to 20 percent of all cases of dilated cardiomyopathy. The TTN gene provides instructions for making a protein called titin, which is found in the sarcomeres of cardiomyocytes and other muscle cells. Titin provides structure, flexibility, and stability to sarcomeres. Titin also plays a role in chemical signaling and in the assembly of new sarcomeres. Many of the TTN gene variants in people with nonsyndromic dilated cardiomyopathy cause cells to produce an abnormally short version of the titin protein. The altered protein likely impairs sarcomere function and disrupts chemical signaling.

Dilated cardiomyopathy may also occur as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as "syndromic" and are caused by variants in other genes.  

Some cases of dilated cardiomyopathy are acquired during a person’s lifetime. Causes of acquired dilated cardiomyopathy can include damage to the valves that control the flow of blood through the heart and damage to the cardiac muscle that is caused by a heart attack, infections, or certain medications.

Learn more about the genes associated with Nonsyndromic dilated cardiomyopathy

Additional Information from NCBI Gene:

Inheritance

Nonsyndromic dilated cardiomyopathy has different inheritance patterns depending on the specific gene involved. When nonsyndromic dilated cardiomyopathy is present in multiple family members, it is often called familial dilated cardiomyopathy.

Nonsyndromic dilated cardiomyopathy is usually inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, some people who have an altered gene never develop features of the condition. This is known as reduced penetrance.

Although many individuals with nonsyndromic dilated cardiomyopathy have an affected parent, some cases of this condition result from new (de novo) variants in a gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. 

Nonsyndromic dilated cardiomyopathy can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Syndromic dilated cardiomyopathy follows the inheritance pattern of the associated syndrome.  

Other Names for This Condition

  • DCM
  • Familial dilated cardiomyopathy
  • Idiopathic dilated cardiomyopathy

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Clinical Trials

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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