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Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol 2013 Dec 15;112(12):1948-52 PMID: 24079520 PMCID: PMC4057998

Pubmed ID

24079520

DOI

10.1016/j.amjcard.2013.08.025

Abstract

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiologic, and histopathologic data for cardiovascular anomalies in patients with PHACE to date. Sixty-two (41%) of 150 subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31 (21%) of 150 subjects). Coarctation was the second most common anomaly, identified in 28 (19%) of 150 subjects, and can be missed clinically in patients with PHACE because of the frequent association of arch obstruction with aberrant subclavian origin. Twenty-three (37%) of 62 subjects with cardiovascular anomalies required procedural intervention. A greater percentage of hemangiomas were located on the left side of the head and neck in patients with coarctation (46% vs 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE.

Author List

Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, Frieden IJ, Goddard DS, Holland KE, Krol AL, Maheshwari M, Metry DW, Morel KD, North PE, Pope E, Shieh JT, Southern JF, Wargon O, Siegel DH, Drolet BA

Authors

Peter C. Frommelt MD Professor in the Pediatrics department at Medical College of Wisconsin
Kristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Mohit Maheshwari MD Associate Professor in the Radiology department at Medical College of Wisconsin
Paula E. North MD, PhD Professor in the Pathology department at Medical College of Wisconsin
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin
James F. Southern MD, PhD Associate Professor in the Pathology department at Medical College of Wisconsin




Scopus

2-s2.0-84888643856   34 Citations

MESH terms used to index this publication - Major topics in bold

Aorta, Thoracic
Aortic Coarctation
Brachiocephalic Trunk
Comorbidity
Eye Abnormalities
Female
Heart Defects, Congenital
Humans
Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes
Registries
Retrospective Studies
Subclavian Vein
Vascular Patency
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5