Complex congenital cardiac anomalies in the setting of right isomerism in a 31-month-old infant: a case report

Abstract

BackgroundCongenital cardiac defects are not rare among neonates. Prompt assessment for life-threatening anomalies is essential for rapid management decisions and positive outcomes. Extracardiac anomalies can occur in congenital heart defects, and their presence increases morbidity and mortality in these neonates.Case presentationWe report a case of a 31- month-old infant black girl in Tanzania who presented with an on-and-off history of difficulty in breathing, easy fatigability, facial and lower-limb swelling, recurrent respiratory tract infections, and failure to thrive.ConclusionsManagement of patients with heterotaxy syndrome is complex and largely depends on specific anatomy of both cardiac and noncardiac lesions. Cardiac and noncardiac management must be tailored to individual anatomy, including prophylaxis against encapsulated organisms for asplenic patients.

Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project

“…It was estimated that approximately 3% of pregnancies would show a fetal structural anomaly (Lyimo et al, 2018; Monaghan et al, 2020; Petrovski et al, 2019). Compared with a single anomaly, MCA are more likely to have a genetic cause.…”

“…Accurate molecular diagnosis is key to effective prevention and treatment and provides a desirable effect to patients and their families. It is also beneficial for evaluating prognoses, testing new therapies, and conducting family counseling (Aleksiuniene et al, 2018; Lyimo et al, 2018; Paththinige et al, 2018; Riggs et al, 2014; Suleiman et al, 2018).…”