Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

Carolina Putotto; Elio Caruso; Bruno Marino; Maria Cristina Digilio; Antonio Novelli; Salvatore Agati

doi:10.1017/S1047951122001585

Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

Cardiol Young. 2022 May 20:1-3. doi: 10.1017/S1047951122001585. Online ahead of print.

Authors

Carolina Putotto¹, Elio Caruso², Bruno Marino¹, Maria Cristina Digilio³, Antonio Novelli⁴, Salvatore Agati²

Affiliations

¹ Department of Pediatrics, Obstetrics and Gynecology, Division of Pediatric Cardiology, Sapienza University of Rome, Rome, Italy.
² Mediterranean Pediatric Cardiology Center "Bambino Gesù Children's Hospital", San Vincenzo Hospital, Taormina, Italy.
³ Medical Genetics, Rare Diseases Unit, Department of Pediatrics, Genetics and Rare Diseases Research Area, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
⁴ Laboratory of Medical Genetics, and Laboratory Multimodal Medicine Research Area, Bambino Gesù Children Hospital, Rome, Italy.

PMID: 35593432
DOI: 10.1017/S1047951122001585

Abstract

Anatomically corrected malposition of the great arteries is a rare CHD, involving alignment and position of the great arteries. We report an infant with situs solitus, atrioventricular discordance, and ventriculoarterial concordance with the aorta arising anteriorly and to the right of the pulmonary artery. A mutation of Nodal gene, implicated in the pathogenesis of human left-right patterning defects, was found.

Keywords: Anatomically corrected malposition of the great arteries; Nodal gene; discordant atrioventricular connections; laterality defects; ventricular l-loop.