Indian Pediatrics 2001; 38: 1333-1335  

Ebstein’s Anomaly: A Rare Finding in Congenital Rubella Syndrome

Congenital Rubella syndrome (CRS) is a manifestation of rubella infection in the fetus during the period of embryogenesis(1,2). A variety of structural heart defects are known to occur with CRS but Ebstein’s anomaly (EA) has not been described in association with CRS(1,2). We are reporting a case of CRS with EA.

A 32-year-old, fifth gravida woman was detected to be strongly positive for rubella at 15 weeks of gestation (IgM titers; patient - 0.973 vs control - 0.428). There was no history suggestive of rubella exposure. She was advised medical termination of preg-nancy but she chose to continue the pregnancy. The term male baby delivered was noted to have symmetrical growth retardation, birth weight of 1300 grams, length of 39 cm (<2SD), head circumference of 26 cm (<SD), chest circumference of 24.5 cm (<2SD) and a ponderal index of 2.19. There was evidence of facial dysmorphism in the form of depressed nasal bridge. The baby was dusky and had saturation ranging between 80-85% on head box oxygen. There was mild respiratory distress. Hepato-splenomegaly was present; but jaundice, skin rash and bleeding spots were not observed. Cardiovascular examination revealed a palpable thrill, single second heart sound and a pansystolic murmur, grade 4/6, heard maximally at the lower left sternal border. Chest X-ray showed cardiomegaly, right atrial enlargement and decreased pulmonary vascular markings. ECG revealed right atrial hypertrophy, with no conduction defects. Echocardiography revealed severe Ebstein’s anomaly with a patent ductus and a small ventricular septal defect. Functional pulmo-nary atresia with ductus dependent pulmonary flow was documented. Indirect ophthalmo-scopy revealed hazy media with suspicion of cataract. X-ray of long bones showed fraying, destruction, and translucency at both ends of the femur (Fig. 1). Platelet counts were 40,000/cu mm and peripheral smear showed evidence of hemolysis. IgM for rubella was strongly positive in the baby (titer: patient - 2.520/control - 0.404). The baby expired on day 3 of life and the parents did not agree for an autopsy.

Gregg in 1944 first described the permanent residua of fetal rubella infection acquired during the first trimester of pregnancy(3). The reported risk of malforma-tions in CRS has been found to vary from 10% to 54%, with a 10-20% risk of major malforma-tions(2). Most authors have not reported major malformations in infants exposed after 12 weeks of gestation.The exact pathogenetic mechanism of rubella teratogenesis is not known, but a favored hypothesis implicates direct effect of viral replication on a clone of fetal cells during a critical stage of ontogeny of specific organs(1).

Bony involvement has been described in CRS as a transient manifestation along with hemolysis, thrombocytopenia, rash and jaundice(1,4). Thrombocytopenia and bony abnormalities have been found to be associated with cardiac defects and are associated with high mortality.

Cardiac defects occur in more than 50% of infants infected before 8 weeks of gestation and include patent ductus arteriosus, peri-pheral pulmonary artery stenosis, pulmonary and aortic valvar stenosis, septal defects, transposition of great vessels, tetralogy of Fallot, tricuspid atresia and stenosis of other systemic vessels(2). PDA is the commonest heart defect and may be present either as a sole abnormality or in association with peripheral pulmonary artery stenosis and/or pulmonary valvar stenosis(2).

EA is a rare form (0.5%) of cyanotic congenital heart disease where atrialization of right ventricle occurs in association with varying degrees of tricuspid stenosis and regurgiation due to an abnormally placed tricuspid valve leaflet. In the neonatal period, a severe EA in a combination with high pulmonary vascular resistance may impede right ventricular ejection in which case the PDA is the only source for pulmonary blood flow. This was one of the ECHO findings in our patient.

The diagnosis of CRS in our case was made on the basis of a suggestive clincial picture and a positive serology in the mother-infant dyad. Clinical presentation, X-ray findings and ECG were suggestive of EA, which was confirmed on echocardio-graphy(2). In conclusion, we report a case of congenital rubella syndrome with Ebstein’s anomaly. This co-occurrence has not been documented earlier.

Ramesh Agarwal,
S.S. Kothari*,
Rajiv Agarwal,
Departments of Pediatrics and Cardiology*,
All India Institute of Medical Sciences,
New Delhi 110 029.
E-mail: [email protected]

1. Cooper LZ, Alford CA Jr. Rubella. In: Infectious Diseases of the Fetus and Newborn, 5th edn. Eds. Remington JS, Klein JO, Philadelphia. W.B. Saunders, 2001; pp 347-388.

2. Rocchini AP, Emmanouilides GC. Pulmonary stenosis. In: Adam and Moss’s Heart Disease in Infants, Children and Adolescents, vol.II, 5th edn. Eds. Emmanoulides GC, Reemenschneider TA, Allen HD, Gutgesell HP. Baltimore, Williams and Wilkins, 1995; pp 930-941.

3. Gregg MM. Congenital cataract following German measles in the mother. Trans Ophthalmol Soc Aust 1941; 3: 35-38.

4. Swischuk LE. Skeletal system and soft tissues. In: Imaging of the Newborn, Infant and Young Child, 4th edn. Ed. Swischuk LE, Philadelphia, Williams and Wilkins, 1997; pp 678-892.