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CASE REPORT article

Front. Cardiovasc. Med.
Sec. Pediatric Cardiology
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1539168
This article is part of the Research Topic Surgical and Non-Surgical Intervention of Congenital Heart Disease Management in Developing and Developed Countries View all 4 articles

Two-Month-Old Infant with PHACE Syndrome: Facial Hemangioma and Severe Complex Coarctation of the Aorta

Provisionally accepted
David Sánchez-Ortiz David Sánchez-Ortiz 1,2*Lucía Deiros Bronte Lucía Deiros Bronte 3Lucia De la Hoz-Marañón Lucia De la Hoz-Marañón 4Marta Feito-Rodríguez Marta Feito-Rodríguez 3Juvenal Rey-Lois Juvenal Rey-Lois 3Diana Salas Mera Diana Salas Mera 3Carlos Labrandero-De Lera Carlos Labrandero-De Lera 3Juan Carlos López-Gutiérrez Juan Carlos López-Gutiérrez 3Federico Gutiérrez-Larraya Federico Gutiérrez-Larraya 3
  • 1 Puerta de Hierro University Hospital Majadahonda, Madrid, Spain
  • 2 Spanish National Centre for Cardiovascular Research, Madrid, Catalonia, Spain
  • 3 Hospital Infantil La Paz, Madrid, Madrid, Spain
  • 4 Hospital General Universitario Doctor Balmis, Alicante, Spain

The final, formatted version of the article will be published soon.

    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.We describe the first diagnosis case of PHACE syndrome in a one-month and 19-dayold 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.Take home messages Early diagnosis of PHACE syndrome is crucial for timely correction.

    Keywords: PHACE syndrome, Hemangioma, Aortic Coarctation, aortic malformations, neural crest migration

    Received: 03 Dec 2024; Accepted: 13 Jan 2025.

    Copyright: © 2025 Sánchez-Ortiz, Deiros Bronte, De la Hoz-Marañón, Feito-Rodríguez, Rey-Lois, Salas Mera, Labrandero-De Lera, López-Gutiérrez and Gutiérrez-Larraya. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: David Sánchez-Ortiz, Puerta de Hierro University Hospital Majadahonda, Madrid, Spain

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