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Updated: Jun 5, 2026

Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure

Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure

Published on: February 8, 2022

PHACES syndrome and ectopia cordis.

Juan Carlos Lopez-Gutierrez¹

¹Department of Surgery, La Paz Children's Hospital, Autonoma University of Madrid, Madrid, Spain. queminfantil.hulp@salud.madrid.org

Interactive Cardiovascular and Thoracic Surgery

|January 21, 2011

Summary

PHACES syndrome, a rare condition affecting multiple body systems, can include severe heart defects. This report details a newborn with PHACES syndrome and ectopia cordis, a previously unreported cardiac anomaly in this syndrome.

Area of Science:

Genetics and Developmental Biology
Pediatric Cardiology
Medical Case Reports

Background:

PHACES syndrome is a complex disorder characterized by posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal defects.
It affects a small percentage of infants with facial hemangiomas, with varying clinical presentations.
Established criteria aid in the classification and management of PHACES syndrome.

Observation:

A newborn presented with PHACES syndrome.
The infant exhibited ectopia cordis, a severe congenital midline defect involving the heart's position.
This represents a previously undocumented cardiac malformation within the spectrum of PHACES syndrome.

Findings:

The case highlights ectopia cordis as a potential, albeit rare, manifestation of PHACES syndrome.

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This finding expands the known spectrum of cardiac anomalies associated with PHACES syndrome.

The variability of PHACES syndrome underscores the need for comprehensive diagnostic approaches.

Implications:

Clinicians should consider ectopia cordis in the differential diagnosis for newborns with PHACES syndrome.
This case may prompt further research into the genetic and developmental pathways underlying PHACES syndrome and its diverse manifestations.
Enhanced awareness of rare presentations can improve early diagnosis and management strategies for affected infants.