Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta

被引：0

作者：

David, Sanchez-Ortiz ^{[1
,2
]}

Lucia, Deiros-Bronte ^{[3
]}

Lucia, De la Hoz-Maranon ^{[4
]}

Marta, Feito-Rodriguez ^{[5
]}

Juvenal, Rey-Lois ^{[6
]}

Diana, Salas-Mera ^{[3
]}

Carlos, Labrandero-De Lera ^{[3
]}

Juan Carlos, Lopez-Gutierrez ^{[7
]}

Federico, Gutierrez-Larraya ^{[3
]}

机构：

[1] Hosp Univ Puerta Hierro Majadahonda, Cardiol Dept, Madrid, Spain

[2] Spanish Natl Ctr Cardiovasc Res CNIC, B Lymphocyte Biol Lab, Madrid, Spain

[3] Hosp Infantil La Paz, Pediat Gastroenterol, Madrid, Spain

[4] Hosp Gen Univ Doctor Balmis, Dept Surg, Alicante, Spain

[5] Hosp Infantil La Paz, Dept Cirugia Pediat, Madrid, Spain

[6] Hosp Infantil La Paz, Dept Cirugia Pediat, Madrid, Spain

[7] Hosp Infantil Univ La Paz, Dept Neurol, Madrid, Spain

来源：

FRONTIERS IN CARDIOVASCULAR MEDICINE | 2025年 / 12卷

关键词：

PHACE syndrome; hemangioma; aortic coarctation; aortic malformations; neural crest migration; ARTERIAL ANOMALIES;

D O I：

10.3389/fcvm.2025.1539168

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background 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.Case Summary 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.Discussion 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.

引用

页数：5

共 1 条

[1] A severe coarctation of aorta in a 52-year-old male: a case report
Cicek, Davran
Haberal, Cevahir
Ozkan, Suleyman
Muderrisoglu, Haldun
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES, 2010, 7 (06): : 340 - 341

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