Publication Date
2-2025
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Abstract
Background: Heterotaxy-polysplenia syndrome (otherwise known as left atrial isomerism) should be suspected in the presence of complete atrioventricular canal defect (CAVC) with interruption of the inferior vena cava (IVC), atrioventricular block (AVB), and viscero-cardiac heterotaxy. The prognosis remains dismal for the fetus with such entity, especially in the presence of major structural heart disease and high-grade atrioventricular block. Early diagnosis, close follow up, and appropriate delivery planning, allows for effective stabilization of the baby after birth and might improve survival. Methods: A 26-year-old mother at 26 weeks gestational age was referred for cardiac evaluation of cardiomegaly, suspected CAVC and bradycardia. Maternal SSA and SSB antibodies were negative. Fetal echocardiogram showed moderate cardiomegaly, bradycardia with 3° AVB with ventricular rate of 64 beats per minute. Anatomy was consistent with heterotaxy {S/A,D,S}, hypoplastic left atrioventricular valve, unbalanced, right-dominant CAVC, dysplastic pulmonary valve, interrupted IVC with azygous continuation to a persistent left superior vena cava draining to a dilated coronary sinus. Partial anomalous pulmonary venous connection and coarctation of the aorta were suspected. Biventricular function was low normal with ventricular non-compaction. Ductus venosus Doppler was notable for a-wave reversal. Umbilical artery and middle cerebral artery waveforms were normal. Biweekly follow-up revealed worsening extracardiac Dopplers and decreasing ventricular function. Results: Given the prematurity, bradycardia, complex cardiac anatomy, non-compaction and ventricular dysfunction, prognosis was considered unfavorable. An integrated consult involving fetal cardiology, neonatology, Electrophysiology (EP) and Palliative care teams was undertaken. The family was counseled for guarded prognosis and high risk for demise, need for postnatal permanent pacemaker and surgical repair leading to a single ventricle pathway with possibility for heart transplant. A 2.79 kg female was delivered by c-section at 35 weeks 5 days; Apgar score was 4,4,and 8. The newborn was immediately transferred for placement of temporary pacing wires with subsequent transfer to the cardiac intensive care unit for stabilization and further management. Coarctation repair, PDA ligation and permanent pacemaker placement were performed at 4 weeks of age. Progressive biventricular dysfunction, bilateral outflow tract obstruction and pacemaker dependency resulted in transplant listing of the patient with a successful orthotopic heart transplantation taking place at 4 months of life and has continued to do well on follow up. Conclusions: Heterotaxy polysplenia syndrome should be suspected in cases with CAVC with interruption of the IVC, and AVB. The presence of major structural heart disease and high-grade AV block carries a guarded prognosis, with survival to discharge from the hospital after delivery at term or near term reported to be less than 50%; in cases of prematurity, survival is expected to be even lower. In our patient, early diagnosis, appropriate counseling, close follow-up and meticulous delivery planning allowed successful perinatal stabilization with timely pacing and effective supportive management. Timely listing and eventual heart transplantation resulted in the survival of this patient.
Disciplines
Cardiology | Pediatrics
Recommended Citation
Abdul Ghayum, Mohamed Aashiq; Schermerhorn, Jenna; Hancock, Hayley S.; Brattrud, Kelsey; Kathol, Melanie; and Kiaffas, Maria, "A Case of Heterotaxy and Common Atrioventricular Canal with Bradycardia" (2025). Posters. 439.
https://scholarlyexchange.childrensmercy.org/posters/439
Notes
Presented at Cardiology 2025: 28th Annual Update on Pediatric and Congenital Cardiovascular Disease; Orlando, FL; February 19-23, 2025.