David Sánchez-Ortiz, Lucía Deiros-Bronte, Lucía De la Hoz-Marañón, Marta Feito-Rodríguez, Juvenal Rey-Lois, Diana Salas-Mera, Carlos Labrandero-De Lera, Juan Carlos López-Gutiérrez, Federico Gutiérrez-Larraya
Cardiology Department, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain.
Molecular Mechanics of the Cardiovascular System Laboratory, Spanish National Center of Cardiovascular Research, Madrid, Spain.
Front Cardiovasc Med. 2025 Feb 3;12:1539168. doi: 10.3389/fcvm.2025.1539168. eCollection 2025.
PHACE syndrome is an uncommon disorder, marked by large segmental hemangiomas on the face and various developmental anomalies. Significant advancements have been made in its diagnosis, imaging, and understanding of complications since 1996.
We describe the first diagnosis case of PHACE syndrome in a one-month and 19-day-old infant who presented with a large facial hemangioma and coarctation of the aorta originating from the left common carotid artery, along with an aberrant course of the right subclavian artery. The complementary diagnostic studies, their surgical correction, and their progression are described.
Given the rarity of the syndrome (the PHACE Syndrome International Clinical Registry and Genetic Repository has over 270 enrolled individuals) and the importance of early diagnosis of some anomalies it comprises, particularly cardiovascular anomalies, dissemination is considered crucial for general and pediatric cardiologists.
PHACE综合征是一种罕见疾病，其特征为面部出现大片节段性血管瘤以及各种发育异常。自1996年以来，在其诊断、影像学及并发症的认识方面已取得显著进展。
我们描述了一名1个月零19天大婴儿的PHACE综合征首例诊断病例，该婴儿表现为巨大面部血管瘤、起源于左颈总动脉的主动脉缩窄以及右锁骨下动脉走行异常。文中描述了辅助诊断检查、手术矫正及其进展情况。
鉴于该综合征的罕见性（PHACE综合征国际临床注册与基因库已登记270多名患者）以及其所包含的某些异常（尤其是心血管异常）早期诊断的重要性，宣传推广对于普通心脏病专家和儿科心脏病专家而言至关重要。
