Dilated Cardiomyopathy 1A

A condition that produces weakness and structural alterations in the heart muscle. It results in an enlargement of the left ventricle making the heart unable to pump enough blood.

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.

Genes analyzed

LMNA

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