CONGENITAL DILATED CARDIOMYOPATHY – A RARE GENETIC CONDITION IN INFANTS

A male newborn admitted in the Neonatal Intensive Care Unit due to dyspnea and cyanosis. The babywas intubated due to tachypnea. No murmurs were heard on auscultation.The ultrasound of the fetalheart before birth showed cardiac malformations. Chest X-ray showed : Increased pulmonary vascularmarkings and cardiomegaly. The abdominal X-ray showed normal liver, spleen and intestine.Electrocardiogram showed Sinus rhythm and tachycardia.On the first day after birth, two-dimensional echocardiography demonstrated marked hypertrophy ofboth ventricles (the posterior wall of the left ventricle was 33mm thick).The baby was started on treatment with low flow oxygen support, digoxin and captoril to enhancemyocardial contractility, creatine phosphate for myocardial nutrition , furosemide diuretic to reducedload, enhance feeding, monitor bilirubin, prevent neonatal jaundice, and close attention was paid to thedisease changes. The baby was stable and was discharged from the hospital. After 20days of discharge,the baby was admitted again with complains of shortness of breath and cyanosis after 20 days ofdischarge. The heart beat was low on auscultation with alternating tachycardia and bradycardia, with anoccasional gallop rhythm. The baby was kept on ventilator assisted ventilation with the requiredparameters and necessary investigations were performed.On repeating the two-dimensional echocardiography, the left ventricular posterior wall and the ventricularseptum was increased compared to the previous echocardiography. A mutation on Chromosome 18,c.1921G>A was detected on gene mutational analysis. Recently, some genetic studies have shown thatmutations in chromosomes 1, 11, 14 and 15, and mutations in sarcomere proteins genes are autosomaldominant