Dilated cardiomyopathy (DCM)

Dilated cardiomyopathy (DCM) is a condition where the heart chambers become enlarged, which reduces its ability to pump properly.

The left ventricle of the heart becomes enlarged (dilated) and the muscle wall becomes thinner. This gives the heart a more rounded (rather than the normal cone) shape.

This causes left ventricle to become weaker is not able to pump as effectively as normal.

The following image (courtesy of Wikipedia) illustrates the difference between a normal heart and a heart with dilated cardiomyopathy.

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 is 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 further information (including symptoms and treatment) on dilated cardiomyopathy, click on the following link to the CardiomyopathyUK website - Cardiomyopathy UK- Dilated Cardiomyopathy