Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)

Abstract

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral/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, radiology, and pathology data for cardiovascular anomalies in PHACE patients to date. 62/150 (41%) subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31/150 (21%) of subjects). Coarctation was the second most common anomaly, identified in 28/150 (19%), and can be missed clinically in PHACE patients because of the frequent association of arch obstruction with aberrant subclavian origin. 23/62 (37%) subjects with cardiovascular anomalies required procedural intervention. A higher percentage of hemangiomas were located on the left side of the head/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.

PHACE syndrome – clinical features, aetiology and management

“…The authors noted a higher incidence of cardiovascular (42%) and cerebrovascular (55%) anomalies when they compared with previous studies . The increased risk (41%) of cerebrovascular anomalies is further supported by a review of 150 cases of PHACE syndrome from the International PHACE Syndrome Registry . This is not surprising considering only a minority of cases of PHACE syndrome have been fully evaluated; therefore; it is likely that the prevalence of these anomalies has been underestimated in the report by Metry et al .…”

“…Coarctation alone can be life‐threatening, and when combined with other anomalies of PHACE syndrome, requires careful management of multiple complex issues. Coarctation in PHACE syndrome often presents as a combination of long‐segment hypoplasia, interruption of the transverse arch or dilatation of the adjacent arch segments and may be overlooked as arch obstruction is commonly associated with aberrant subclavian artery origins .…”

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository

“…(7–9). Patients were recruited for enrollment into the registry via in-person visits at the Children’s Hospital of Wisconsin, referrals from the PHACE Syndrome Community advocacy group, direct enrollment via the PHACE syndrome registry website, and direct referrals from other physicians and genetic counselors to the registry investigators.…”

Vascular Tumors/Birthmarks

“…Hispanic infants are more likely to have their segmental hemangiomas associated with PHACE(s) syndrome [ 35 ]. On the other hand, hemangioma distribution does not predict the occurrence of cardiovascular anomalies [ 52 ]. LUMBAR (lower body hemangioma and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies), PELVIS (perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag syndrome), and SACRAL (spinal dysraphism, anogenital, cutaneous, renal, and urological anomalies, associated with an angioma of lumbosacral localization) are acronyms that refer to the association of large segmental HI of the lumbosacral or perineal areas and underlying structural abnormalities.…”