About LMNA mutations

Mutations in the LMNA gene can cause the lamin A protein to be abnormal, leading to changes in the structure of the nuclear envelope and the way it functions. This can result in several types of LMNA-related heart diseases, including:

  1. Dilated cardiomyopathy: This is a type of heart disease where the heart becomes enlarged and weakened, making it difficult to pump blood effectively.
  2. Hypertrophic cardiomyopathy: This is a type of heart disease where the heart muscle becomes thick and makes it difficult for the heart to pump blood.
  3. Arrhythmogenic right ventricular cardiomyopathy (ARVC): This is a type of heart disease where the heart’s electrical system is affected, leading to an increased risk of irregular heartbeats (arrhythmias) and sudden cardiac death.
  4. Emery-Dreifuss muscular dystrophy (EDMD): This is a type of muscular dystrophy that affects the heart, as well as the muscles and joints.

LMNA-related heart diseases can be inherited in an autosomal dominant pattern, which means that a single copy of the mutated gene is enough to cause the disease. These conditions can affect people of any age and can be life-threatening, especially if they lead to heart failure or arrhythmias.

Diagnosis of LMNA-related heart diseases typically involves a combination of medical history, physical exam, and genetic testing. Treatment may include medications to manage symptoms, lifestyle changes, and in some cases, surgical procedures. It’s important for people with LMNA-related heart diseases to be under the care of a specialist to manage their condition and reduce the risk of complications.