Delogu Angelica Bibiana, Mariani Francesco, Graziani Francesca, Onesimo Roberta, Savino Giancarlo, Leoni Chiara, Zampino Giuseppe
Unit of Pediatrics, Pediatric Cardiology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Università Cattolica del Sacro Cuore, Rome, Italy.
Echocardiography. 2022 May;39(5):741-744. doi: 10.1111/echo.15349. Epub 2022 Apr 17.
The 18q deletion syndrome is a rare genetic condition characterized by a large variability in clinical phenotype and severity. Congenital heart diseases have been described by several previous reports, most commonly including pulmonary valve anomalies and septal defects. We describe a new case of a 22-month-old boy affected by 18q del syndrome found to have a symptomatic pulmonary artery sling. This study reports a new case of pulmonary artery sling associated with 18q del syndrome, providing an alert for pediatric cardiologists about less common cardiovascular anomalies, which can easily be missed, allowing for early diagnosis and appropriate care.
18q缺失综合征是一种罕见的基因疾病,其临床表型和严重程度差异很大。先前已有多篇报道描述了先天性心脏病,最常见的包括肺动脉瓣异常和间隔缺损。我们报告了一例新病例,一名22个月大的男孩患有18q缺失综合征,发现有症状性肺动脉吊带。本研究报告了一例与18q缺失综合征相关的肺动脉吊带新病例,提醒儿科心脏病专家注意不太常见的心血管异常,这些异常很容易被漏诊,以便早期诊断和给予适当治疗。