Dilated Cardiomyopathy 1A

Dilated cardiomyopathy is one of the most common causes of heart failure and the most common indication for heart transplantation worldwide with a prevalence of 40 cases per 100,000 people. Dilated cardiomyopathy can have a genetic cause and can also originate from exposure to toxins, infections, metabolic/endocrine disturbances, autoimmunity or the presence of neuromuscular diseases such as Duchenne.

More than 60 genes have been linked to dilated cardiomyopathy, among which MYH7, TNNT2, TNNI3, TTN, DSP, LMNA and SCN5A are the most frequently found to be altered in patients. Dilated cardiomyopathy 1A is caused by the presence of pathogenic variants in the LMNA gene and is characterized by cardiac dilatation and reduced cardiac function.aca and a reduction in systolic function, accompanied by arrhythmias and a decrease in myocardial contractile force.

The symptoms of LMNA-associated dilated heart disease manifest themselves mainly in adults from 20-30 years of age, although there are studies that indicate that alterations can be observed in the electrocardiograms of patients as young as 7 years of age. Arrhythmias or other symptoms such as heart failure, progressive cardiac conduction defect and embolism of a left ventricular mural thrombus are usually observed. There are people who may be asymptomatic and it is detected that they present this pathology in other controls in which electrocardiograms are performed. With the progression of the disease, sudden cardiac death may occur.

Current treatment of LMNA gene-related cardiomyopathy follows the general recommendations for the treatment of heart failure, including the use of beta-blocking drugs, ACE inhibitors or angiotensin receptor blockers. In terminal stages of heart failure, heart transplantation or implantation of ventricular assist devices may be necessary. To treat arrhythmias and prevent sudden cardiac death, an implantable cardioverter defibrillator may be used.

Although not much data is available, it is recommended that athletes with LMNA mutations should not participate in competitive sports, except for those of low intensity.