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HEREDITARY MONOGENIC DISEASES

           

Dilated cardiomyopathy 1A

Dilated Cardiomyopathy (CMD) is the most common form of cardiomyopathy and represents more than half of the cases of heart transplantation in patients between 1 and 10 years old, although the symptoms of familial CMD usually manifest around the age of 20-30 years old. The disease is characterized by cardiac dilation and reduced systolic function, together with by arrhythmias and a reduction in the strength of myocardial contraction.

Dilated cardiomyopathy 1A develops due to the presence of mutations in the LMNA gene, which codes for a protein called A/C lamina.

The most frequent symptoms are heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduction of cardiac output (fatigue, dyspnea on exertion), arrhythmias and/or disease of the conduction system.

GENE OR REGION STUDIED


  • LMNA