Vol. 5, Issue 1, Part A (2023)

Duchenne muscular dystrophy (DMD) is a rare genetic disorder primarily affecting males. It is caused by mutations in the DMD gene, which leads to the absence of the protein dystrophin in muscle cells. While DMD primarily manifests as a progressive muscle-wasting condition, it can also have significant cardiac implications, known as DMD-associated cardiomyopathy. DMD-associated cardiomyopathy typically develops as individuals with DMD age, usually appearing in the late teens or early twenties. It results from the gradual replacement of healthy cardiac muscle tissue with fibrous and fatty tissue, impairing the heart's ability to pump blood effectively. This condition can lead to dilated cardiomyopathy, characterized by an enlarged and weakened heart. Common symptoms of DMD-associated cardiomyopathy include shortness of breath, fatigue, palpitations, and edema. If left untreated, it can progress to heart failure, which may necessitate interventions such as medications, pacemakers, or heart transplantation. Regular cardiac monitoring is essential for individuals with DMD to detect cardiomyopathy early. Treatment strategies aim to manage symptoms, improve cardiac function, and prolong life. Medications like ACE inhibitors or beta-blockers can help manage heart function, and some individuals may benefit from cardiac surgery or devices like implantable cardioverter-defibrillators (ICDs). DMD-associated cardiomyopathy is a serious and potentially life-threatening complication of Duchenne muscular dystrophy. Early detection and a multidisciplinary approach involving cardiologists, neurologists, and other specialists are crucial to manage the disease and improving the quality of life for affected individuals.