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28 November 2018 : Case report  Italy

Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review

Mistake in diagnosis, Management of emergency care, Patient complains / malpractice, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)

Cristian D'Ovidio1ABCDEF*, Lidia Decembrino2CEF, Mauro Stronati2CDEF, Aldo Carnevale1ACDEF, Rossano Lattanzio34BCDEF

DOI: 10.12659/AJCR.909749

Am J Case Rep 2018; 19:1416-1421

Abstract

BACKGROUND: We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed.

CASE REPORT: The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). The investigations around her death revealed a cardiac congenital malformation, seen as a rare variant of a common arterial trunk, in which the aorta was fused with the right branch of the pulmonary artery. The ascending aorta showed hypoplasia, while the coronary arteries were free of any pathological findings. The atrial septum showed a closed foramen ovale and the ventricular septum did not show any defect. Only an isolated right ventricular hypertrophy and dilation with no other cardiac abnormalities was found. The cause of death was acute respiratory failure on the third day of extrauterine life when the ductus Botalli closed. The karyotype analysis performed in this case was normal, and the fluorescent in situ hybridization analysis did not show the 22q11.2 microdeletion suggestive of the DiGeorge syndrome.

CONCLUSIONS: These findings underline the value of 3-dimensional/4-dimensional ultrasound imaging when added to a fetal cardiology screening program, and the need for improvements in postnatal screening routines by using pulse oximetry in order to discover isolated vascular defects before circulatory collapse occurs, as well as to reduce the medico-legal disputes in cases of missed diagnosis. We found the relevant literature search lacked a description of this congenital malformation, which supports our deeper perinatal investigation.

Keywords: Heart Defects, Congenital, Prenatal Diagnosis, Pulmonary Artery

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923