Register for our cycling event and help raise funds for LMNA research!

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.

Subscribe To Our Newsletter

Show Your Support

Every contribution, regardless of its amount, fuels crucial efforts in research, medical education, patient advocacy, and raising awareness about LMNA cardiac diseases.

You can make a difference in various ways: by committing as a regular monthly donor, offering a single donation, organizing fundraising events both online and in person, contributing to our special tribute funds, or through your unique fundraising initiatives!