Uhl's Anomaly as a Part of Vacterl Association

In 1952, the almost complete absence of the myocardium in the right ventricle was described by Uhl (8). The right ventricle develops a parchment like appearance with associated diminution of function. This is an exceedingly rare congenital abnormality. The most frequent symptom is congestive heart failure. It may be associated with massive peripheral edema, pleural, and pericardial effusion. It may lead to functional pulmonary atresia as Ebstein's anomaly, tricuspid valve dysplasia, and neonatal Marfan syndrome (6, 7). Also it is associated with dysplasia of tricuspid valve, and pulmonary atresia (2).The VACTERL association was described as co-occurrence of a group of congenital malformations. Various studies have estimated the frequency between less than 1/10,000 to 1/40,000 infants (approximately Here in we report a neonatal case of Uhl's anomaly associated with horse shoe kidney and the esophagus atresia in a part of VACTERL association. The premature neonate was bom to a 31-year-old white female at 35 4/7 weeks gestation and weighed 1510 g. The mother's pregnancy was complicated with pregnancy induced hypertension. At 23 weeks' gestation prenatal echocardiography was performed because of suspicion of fetal congenital heart disease on routine fetal ultrasonographic examination. Echocardiographic evaluation showed an enlarged right ventricular cavity. The infant was delivered via cesarean section. The infant had Apgar scores of 1 at 1 minute and intubated afterwards, respectively. The infant's initial oxygen saturation measured with pulse oximetry was 65%. A feeding tube could not be passed into the stomach. Chest X-rays taken after the hospitalization showed massive enlargement of cardiac silhouette (Fig. 1). Also intestinal gas was detected confirming association of trachea esophageal fistula with atresia. In one hour after delivery echocardiography was performed and revealed enlargement of right atrium and ventricle, severe tricuspid insufficiency and thin musculature of right ventricle. Pulmonary antegrade blood flow could not be detected. It was provided by ductus arteriosus (Fig. 2). The infant's abdominal ultrasonography showed horse shoe kidney. The condition of the infant continued to deteriorate. Recurrent hypotension and severe cyanosis required volume and dopamine, prostaglandin infiisions. Despite respiratory support the cardiopulmonary arrest developed and the patient died at the two hours of life due to intractable heart failure.Uhl's anomaly is rarely encountered anomaly. Absence of right ventricular myocardium may be the result of primary non-development of myocytes or may be due to selective apoptosis (9). Uhl considered the disease to be congenital in origin, since then, there have been numerous similar case reports of apparently congenital hypoplasia of the entire or near-entire right ventricle, with or without other associated congenital defects. Dysplasia of tricuspid valve, pulmonary atresia with intact ventricular septum have been described in association with Uhl's anomaly (2). The necropsy findings of a case of Uhl's anomaly associated with pulmonary atresia in a newborn was reported in the literature as an important reduction in the number of muscular fibers and a very thin right ventricular wall as described by Uhl (1).In patients with Uhl's anomaly congestive heart failure is the most common symptom. It may mimic cyanotic heart disease such as Ebstein's anomaly or pulmonary atresia (1). …