Journal of Pediatric Diseases

A male newborn admitted in the Neonatal Intensive Care Unit due to dyspnea and cyanosis. The baby
was intubated due to tachypnea. No murmurs were heard on auscultation.The ultrasound of the fetal
heart before birth showed cardiac malformations. Chest X-ray showed : Increased pulmonary vascular
markings 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 of
both 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 enhance
myocardial contractility, creatine phosphate for myocardial nutrition , furosemide diuretic to reduced
load, enhance feeding, monitor bilirubin, prevent neonatal jaundice, and close attention was paid to the
disease 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 of
discharge. The heart beat was low on auscultation with alternating tachycardia and bradycardia, with an
occasional gallop rhythm. The baby was kept on ventilator assisted ventilation with the required
parameters and necessary investigations were performed.
On repeating the two-dimensional echocardiography, the left ventricular posterior wall and the ventricular
septum 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 that
mutations in chromosomes 1, 11, 14 and 15, and mutations in sarcomere proteins genes are autosomal
dominant