Prenatal Diagnosis Of Complex Congenital Heart Disease With Right Atrial Isomerism And Double Outlet Right Ventricle: A Combined Case Report
DOI:
https://doi.org/10.64252/g45dgb15Keywords:
Fetal echocardiography, double outlet right ventricle (DORV), transposition of great arteries (TGA), right atrial isomerism, heterotaxy syndrome, atrioventricular septal defect (AVSD), congenital heart defect (CHD).Abstract
Background: Congenital heart defects (CHDs) are the most frequently diagnosed prenatal anomalies, with complex subtypes such as double outlet right ventricle (DORV) and transposition of the great arteries (TGA) posing significant diagnostic and management challenges. The presence of such defects, particularly when associated with syndromes like right atrial isomerism, necessitates detailed fetal cardiac evaluation for early diagnosis and optimal perinatal care planning.
Objective: To assess fetal cardiac and abdominal anatomy through prenatal ultrasound and targeted fetal echocardiography in fetuses suspected of having complex congenital heart disease.
Case Description: The two cases of fetuses evaluated during the second trimester using transabdominal ultrasound and fetal echocardiography.
Case 1: A 21-week-3-day fetus underwent routine anomaly scanning. The fetus was structurally normal in terms of craniofacial, spinal, abdominal, and limb anatomy, with appropriate biometry and estimated fetal weight. However, cardiac assessment revealed DORV with D-TGA physiology and a small subpulmonic ventricular septal defect (~3 mm), with both great arteries arising from the right ventricle and lying in parallel orientation—findings consistent with an isolated conotruncal anomaly. No extracardiac or syndromic abnormalities were identified.
Case 2: A detailed fetal echocardiographic study in another fetus with suspected conotruncal anomaly revealed right atrial isomerism. Findings included bilateral right atrial appendages, absent spleen, right-sided stomach, midline liver, and left-sided aortic arch. Cardiac anomalies included a complete unbalanced atrioventricular septal defect (AVSD), DORV with D-TGA, subvalvular/valvular pulmonary stenosis, total anomalous pulmonary venous connection (TAPVC), and bilateral superior vena cavae—suggestive of heterotaxy syndrome with complex cardiac malformations.
Conclusion: These cases highlight the importance of prenatal ultrasound and echocardiography for early detection of complex CHDs, enabling timely counseling, planning, and improved outcomes in heterotaxy.
