Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta
BackgroundPHACE 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 SummaryWe describe the first diagnosis case o...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1539168/full |
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| author | Sánchez-Ortiz David Sánchez-Ortiz David Deiros-Bronte Lucía De la Hoz-Marañón Lucía Feito-Rodríguez Marta Rey-Lois Juvenal Salas-Mera Diana Labrandero-De Lera Carlos López-Gutiérrez Juan Carlos Gutiérrez-Larraya Federico |
| author_facet | Sánchez-Ortiz David Sánchez-Ortiz David Deiros-Bronte Lucía De la Hoz-Marañón Lucía Feito-Rodríguez Marta Rey-Lois Juvenal Salas-Mera Diana Labrandero-De Lera Carlos López-Gutiérrez Juan Carlos Gutiérrez-Larraya Federico |
| author_sort | Sánchez-Ortiz David |
| collection | DOAJ |
| description | BackgroundPHACE 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 SummaryWe 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.DiscussionGiven 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. |
| format | Article |
| id | doaj-art-c6bc005315ea4d10881e312f99f7dd5a |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-c6bc005315ea4d10881e312f99f7dd5a2025-02-03T12:56:41ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-02-011210.3389/fcvm.2025.15391681539168Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aortaSánchez-Ortiz David0Sánchez-Ortiz David1Deiros-Bronte Lucía2De la Hoz-Marañón Lucía3Feito-Rodríguez Marta4Rey-Lois Juvenal5Salas-Mera Diana6Labrandero-De Lera Carlos7López-Gutiérrez Juan Carlos8Gutiérrez-Larraya Federico9Cardiology Department, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, SpainMolecular Mechanics of the Cardiovascular System Laboratory, Spanish National Center of Cardiovascular Research, Madrid, SpainPediatric Cardiology Department, Hospital Infantil La Paz, Madrid, SpainCardiology Department, Hospital General Universitario Doctor Balmis, Alicante, SpainDermatology Department, Hospital Infantil La Paz, Madrid, SpainCardiac Surgery Department, Hospital Infantil La Paz, Madrid, SpainPediatric Cardiology Department, Hospital Infantil La Paz, Madrid, SpainPediatric Cardiology Department, Hospital Infantil La Paz, Madrid, SpainGeneral Surgery Department, Hospital Infantil La Paz, Madrid, SpainPediatric Cardiology Department, Hospital Infantil La Paz, Madrid, SpainBackgroundPHACE 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 SummaryWe 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.DiscussionGiven 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.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1539168/fullPHACE syndromehemangiomaaortic coarctationaortic malformationsneural crest migration |
| spellingShingle | Sánchez-Ortiz David Sánchez-Ortiz David Deiros-Bronte Lucía De la Hoz-Marañón Lucía Feito-Rodríguez Marta Rey-Lois Juvenal Salas-Mera Diana Labrandero-De Lera Carlos López-Gutiérrez Juan Carlos Gutiérrez-Larraya Federico Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta Frontiers in Cardiovascular Medicine PHACE syndrome hemangioma aortic coarctation aortic malformations neural crest migration |
| title | Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta |
| title_full | Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta |
| title_fullStr | Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta |
| title_full_unstemmed | Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta |
| title_short | Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta |
| title_sort | case report two month old infant with phace syndrome facial hemangioma and severe complex coarctation of the aorta |
| topic | PHACE syndrome hemangioma aortic coarctation aortic malformations neural crest migration |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1539168/full |
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