Key result
Prenatal fetal echocardiography enables successful perinatal management of Uhl's anomaly with stable 3-year survival.
Why the study?
Uhl's anomaly is an extremely rare cardiac defect with few prenatal diagnoses reported, limiting understanding of prenatal detection and outcomes.
Case Report (n=1)
No
Accurate prenatal diagnosis of Uhl's anomaly using fetal echocardiography can help estimate postnatal outcomes and guide management.
May inform perinatal planning for rare Uhl's anomaly; leaves open whether fetal echocardiography improves outcomes in larger cohorts.
BACKGROUND: Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle. Until now, only three cases have been diagnosed or have showed suspicious diagnosis in prenatal period. CASE: A 28-year-old nulliparous woman was referred to the present hospital for counseling the risk of drug medication. The authors found dilatation of the right ventricle and thinning of the right ventricular wall in the fetus at 25 weeks gestation. No other structural abnormalities were found concerning the great arteries and all heart valves demonstrated normal function. Uhl's anomaly was suspected on fetal echocardiography and it was confirmed postnatally by echocardiography and computed tomography (CT). The infant showed stable condition during neonatal period and is doing well in the ambulatory care after three-years follow up: CONCLUSION: Although the outcomes of Uhl's anomaly are generally unfavorable, the duration of survival shows wide variation according to the cardiac function. To estimate the postnatal outcomes, it is highly recommended to perform the accurate differential diagnosis by using fetal echocardiography during pregnancy.
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Kim et al. (2015) conducted a case report in Uhl's anomaly (n=1). Fetal echocardiography and conservative management was evaluated on Clinical outcome of the infant. Prenatal diagnosis of Uhl's anomaly using fetal echocardiography at 25 weeks gestation allowed for successful perinatal management, with the infant remaining stable at 3-year follow-up.
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