Case Presentation
The index case was the third child born to a healthy non-consanguineous Saudi Arab young couple at 36 weeks gestation by an elective cesarean section. The mother was a 24-year-old gravida 3 para 2. She was referred to the feto-maternal clinic at 36 weeks gestation with a recent diagnosis of non-immune hydrops fetalis associated with decreased fetal movements. The rest of the prenatal history and family history were unremarkable. The prenatal ultrasound showed evidence of fetal hydrops, poor cardiac function with no associated structural fetal anomalies (figure 1). The baby’s birth weight was 3.59 Kg, the length was 47cm, and the head circumference was 34 cm. Apgar scores were 7 and 9 at 1 and 5 minutes, respectively. He required an immediate intubation and mechanical ventilatory support. Physical examination revealed a male newborn with anasarca, had no active movements. Apart from distortion caused by edema, no obvious facial dysmorphism was appreciated, cardiac sounds were muffled. Liver size was normal, spleen was not palpable and genitalia were normal. Extremities showed no deformities.
Post-natal echocardiogram study showed thickened valves, severely decreased right ventricular systolic and left ventricular systolic function, moderate tricuspid valve insufficiency, prominent right ventricle muscle bundle, dilated right ventricle, mild, normal left ventricle structure and size and small restrictive membranous ventricular septal defect.
Despite the intensive hemodynamic support he received, the baby had a cardiac arrest. Repeated echocardiogram showed worsening of the contractility pericardial effusion and dilation of both ventricles (figure 2). He was declared dead post failed resuscitation.