Isolated hypoplasia of right ventricle with atrial septal defect: a rare form of cyanotic heart disease.

Isolated hypoplasia of right ventricle is a rare kind of congenital heart disease that can present with cyanosis in childhood. We evaluated the clinical profile, diagnosis and management strategy of isolated hypoplasia of right ventricle in children. During 1993-1997, six children were diagnosed to have isolated right ventricular hypoplasia in our institution. Two patients were referred because of cyanosis, while cardiac murmur was the reason for referral in the remaining four. Besides clinical evaluation, all these patients had chest radiography, electrocardiography and echo-doppler studies. At echocardiography the valve diameters were measured and the degree of hypoplasia was quantified as standard deviation units. Cardiac catheter studies and angiography, and surgical intervention were carried out where indicated. Both operated and unoperated patients were followed up for 3-5 years. Cyanosis (severe--2, mild--4) and a soft ejection systolic murmur at the left sternal border were present in all patients. The second sound was normal. On two-dimensional echocardiography, all had hypoplasia of right ventricular (trabecular portion) and bi-directional shunt across atrial septal defect. Cardiac catheterisation was performed in four patients, which confirmed the echo findings and revealed normal right heart pressures. These four patients underwent surgical procedures. Simple closure of atrial septal defect was sufficient in two patients. Two others required bi-directional cavopulmonary anastomoses, and atrial septal defect closure was tolerated only by one of these two patients. Complete correction is not always feasible and adequacy of right ventricle to receive the entire venous return should be accurately assessed prior to, as well as during surgery.