Dilated cardiomyopathy (DCM)

Dilated cardiomyopathy (DCM) is a condition where the heart chambers, particularly the left ventricle become enlarged and the muscle wall thins. This structural change gives the heart a more rounded shape and weakens its ability to pump blood effectively.

Treatment options aim to improve symptoms and may include medications, lifestyle changes, and devices such as pacemakers or implantable cardiac defibrillators (ICDs). In more severe cases, a heart transplant may be considered.

The following image courtesy of Wikipedia, illustrates the difference between a normal heart and one with DCM.

Genetics in Dilated Cardiomyopathy

Dilated Cardiomyopathy can be caused by variants in genes that encode for proteins that are involved in the contraction and relaxation of the heart muscle. DCM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved. In some cases, DCM can also be caused by new (de novo) gene changes which occur spontaneously and are not inherited from either parent.

Mutations in the LMNA gene are the most common cause of familial DCM. LMNA encodes for lamin A/C, which is involved in maintaining the structure and function of the nucleus in heart muscle cells. Other genes that have been linked to DCM include MYH7, TNNT2, TTN, and DSP.

While DCM can be a genetic disorder, it is important to note that not all cases of DCM are caused by genetic changes. Some cases may be due to other factors, such as viral infections, alcohol abuse, or certain medications.

For more detailed information on symptoms and causes of dilated cardiomyopathy, click on the following links DCM Foundation and Cardiomyopathy UK- Dilated Cardiomyopathy