A case of tricuspid atresia: prenatal diagnosis and postnatal evaluation

Objective

In this case report,we aimed to discuss prenatal diagnosis and postnatal evaluation of tricuspid atresia is a cyanotic form of congenital cardiac defect in which there is not a direct connection between the right atrium and the right ventricle.

Case(s)

A 25yearold pregnant woman,G2 P1,in 28th gestational week was referred to our clinic with an abnormal fourchamberview of the fetus with a suspected VSD Fetal echocardiography revealed situs solitus, tricuspid atresia and ventriculoarterial concordance A large VSD was present between the left ventricle

Conclusion

The diagnosis of tricuspid atresia is feasible with fetal echocardiography.A cooperative evaluation should be made by an obstetrician,a thoracic-cardiac surgeon and a specialist in genetics and counselling should be also given to the parents by this team.

Keywords

Tricuspid atresia, fetal echocardiography, gebelik.

Introduction

Cardiac anomalies occur in 0.4 to 1.1% of live neonates, and they comprise the most common anomaly group.(1,2) Tricuspid atresia is a cyanotic form of the congenital heart diseases, and its clinical presentation is a result of the absence of a direct connection between the right atrium and the right ventricle. Its incidence is between 1% and 2.5% among infants with congenital heart diseases.(3,4) Almost all of the cases with tricuspid atresia has ventricular septal defect (VSD), frequently accompanied with rudimentary right ventricle and pulmonary stenosis. Additionaly, 80% of the cases with tricuspid atresia have concordant ventriculoarterial connection, (5) while 20% have disconcordant connection (transposition).(6)
Prognosis is worse in the infants born with tricuspid atresia if it is not managed palliatively. Usually the infants undergo 2 to 3 procedures (Glen and Fontan operations) within the first six years following the labor. The mean survival rate is 50% at the end of 15 years following the procedure.(7 )

Case(s)

A twentyfive-year-old pregnant woman, G2 P1, at gestational week 28 who was monitored for a suspected VSD in addition to the abnormal four-chamber-view of the fetus was referred to the Obstetrics and Gynecology Department of the Medical Faculty of Kahramanmaraş Sütçü İmam University for fetal echocardiography. In a sequential analysis of the heart,5 presence of situs solitus, lack of formation of the tricuspid valve connecting the right atrium with the right ventricle (presence of a single perforated mitral valve) and concordant ventriculo-arterial connection were observed. A large VSD was present between the rudimentary right ventricle and left ventricle, which was in normal morphology (Figure 1). No anomaly other than cardiac was observed during the systemic examination by ultrasonography. The parents made their choice for cordosynthesis upon genetic consultation. Cariotype was found 46, XY. Following that, the parents decided for the termination of pregnancy considering the postnatal operations and potential complications. A postmortem examination on fetus revealed a normal anatomic position of the heart, tricuspid atresia, VSD, rudimentary right ventricle and pulmonary stenosis.

Discussion

Diagnosis of tricuspid valve anomalies is made by a standard four-chamber-view, however fetal echocardiography is required for final diagnosis. Tricuspid atresia is a cardiac anomaly which is a rare condition among other cardiac anomalies, and doesn't provide promising results in spite of the procedures where the heart is operated into a single ventricular structure anatomically during the postnatal period.(3,4,7) Contrary to other cardiac anomalies, it is very rare that tricuspid atresia is accompanied with chromosomal disorders and multiple malformation syndromes, but chromosomal evaluation should also be undertaken.(8) Incidence of concomittant non-cardiac malformations is around 10%.
No additional anomaly was observed during the prenatal ultrasonographic and postnatal evaluations in our case. In prenatal diagnosis, advanced ultrasonography (particularly facial, renal and gastrointestinal systems), fetal cariotype, family history of cardiac arrhythmia, history of congenital cardiac anomaly and history of lithium intake during pregnancy should be evaluated.(8) As a result of these evaluations, no etiology was found in our case to understand the cardiac anomaly. In differential diagnosis, pulmonary atresia accompanied with intact septum should be evaluated. Monitoring of the tricupsid regurgitation is helpful in differential diagnosis in such cases. Another diagnosis that should be considered is Double-Inlet ventricle. The family should be informed about the risk for a recurrency rate of appr. 1% in subsequent pregnancies during the genetic consultation.(8)

Conclusion

Prenatal diagnosis of tricuspid atresia can be made by fetal echocardiography. Such cases should be evaluated by a team of experts from fields such as obstetrics, genetic, and cardiovascular surgery, and counselling should be provided by that team. 
 

References

1. Hoffman JIE, Christianson R: Congenital heart disease in a cohort of 19502 births with long term follow-up. Am J Cardiol 1978; 42: 640-7.
2. Ferencz C, Rubin JD, MC Carter RJ. Congenital heart disease: prevalance at livebirth. The Baltimore – Washington Infant Study. Am J Epidemiol 1985; 121: 31-6.
3. Storstein O, Rokseth R, Sorland S. Congenital heart disease in clinical material. An analysis of 1000 consecutive cases. Acta Med Scand 1964; 176: 195-200.
4. Rashkind WJ. Tricuspid atresia: a historical review. Pediatr Cardiol 1982; 2: 85-8.
5. Güven M.A, Carvalho J, Ho Y, Shinebourne E. Sequential Segmental Analysis of The Heart. Artemis 2003; 4: 21-3.
6. Anderson RH, McCarthney FJ, Shinebourne EA, Tynan, eds. Tricuspid atresia. In: Paediatric Cardiology. Edinburgh: Churchill Livingstone 1987; 675-697.
7. Kirklin JW, Barratt-Boyes BG. Tricuspid atresia and Fntan operation. In: Cardiac Surgery , 2nd edn. London: Churchill Livingstone 1993; 1055-1104.
8. Petrikovski BM. Fetal cardiac anomalies. In: Fetal disorders, diagnosis and management. 1st edn. USA: Wiley-liss. 1999; 55-99.

	File/Dsecription
	Figüre 1. View of tricuspid atresia, rudimentary right ventricle, ventricular septal defect and abnormal four-chamber.