Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.
Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, USA; Division of Pediatric Otolaryngology, Texas Children's Hospital, Houston, TX, 77030, USA.
Int J Pediatr Otorhinolaryngol. 2020 Sep;136:110211. doi: 10.1016/j.ijporl.2020.110211. Epub 2020 Jun 23.
Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center.
A review of 428 children with microtia was conducted. Patients were identified as syndromic or non-syndromic. Data included echocardiograms performed, anomalies detected, need for cardiology follow-up, and need for surgical intervention.
In the 428 patients with microtia, 77 patients (18%) were syndromic, the most common being Goldenhar (26%). 23.5% (101) of patients overall had documented echocardiograms, with structural anomalies found in 75.9% of patients screened and 18.5% overall, including disorders ranging from minor septal defects to Tetralogy of Fallot. The most common anomalies were left-right shunts in 77.2% of anomalies. Syndromic patients had a greater percentage of echocardiograms performed, cardiac anomalies, and cardiology follow-up compared to non-syndromic microtia patients.
Children with microtia are at significant risk for cardiac abnormalities. Many patients with lesions required treatment and cardiology follow-up. Anomalies may have been missed in those who did not receive an echocardiogram. Given the risk of cardiac anomalies going unnoticed at the time of birth, we recommend a thorough cardiac physical exam for each microtia patient and the consideration of screening echocardiogram in syndromic children born with microtia.
小耳畸形是一种先天性疾病，已知与心脏异常有关。目前的指南建议在存在耳部畸形伴发育不良特征的情况下进行心脏超声或其他心脏检查，但不包括孤立性小耳畸形。我们报告了在一家三级儿科中心的小耳畸形患者中心脏异常的发生率和特征。
对 428 例小耳畸形患儿进行了回顾性研究。患儿分为综合征型或非综合征型。数据包括进行的超声心动图、检测到的异常、心脏病学随访的需要以及手术干预的需要。
在 428 例小耳畸形患者中，77 例（18%）为综合征型，最常见的是 Goldenhar 综合征（26%）。共有 23.5%（101 例）的患者进行了记录在案的超声心动图检查，筛查出的结构性异常患者占 75.9%，总体占 18.5%，包括从轻微的间隔缺损到法洛四联症等各种疾病。最常见的异常是左右分流，占异常的 77.2%。与非综合征型小耳畸形患者相比，综合征型患者进行超声心动图检查、发现心脏异常和进行心脏病学随访的比例更高。
小耳畸形患儿存在严重的心脏异常风险。许多有病变的患者需要治疗和心脏病学随访。未进行超声心动图检查的患者可能存在漏诊。鉴于出生时心脏异常未被发现的风险，我们建议对每位小耳畸形患者进行全面的心脏体格检查，并考虑对综合征型小耳畸形患儿进行筛查性超声心动图检查。
