Complex Aortic Coarctation and PHACE Syndrome

Prada, Fredy; Mortera, Carlos; Bartrons, Joaquim; Rissech, Miguel; Jiménez, Lorenzo; Carretero, Juan; Rovira, Carlota; Vicente, María Asunción

doi:10.1016/s1885-5857(10)70261-9

Cited by 6 publications

(10 citation statements)

References 14 publications

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“…An anomalous course of the innominate vein is rare. Right-sided aortic arch may have been with retroaortic course of innominate vein and more than 80% of the patients with anomalous left innominate vein have obstruction of the right ventricular outflow tract (RVOT), commonly tetralogy of Fallot (TOF) with or without pulmonary atresia [3,4]. However, as in our case, combination of right-sided aortic arch with hypoplasia, aberrant left subclavian artery and retroaortic course of innominate vein without RVOT obstruction has not been published yet.…”

mentioning

confidence: 66%

eComment. Rare combination of aortic anomalies

Alpat

Yılmaz

Demircin

2013

Interactive CardioVascular and Thoracic Surgery

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mentioning

confidence: 66%

eComment. Rare combination of aortic anomalies

Alpat

Yılmaz

Demircin

2013

Interactive CardioVascular and Thoracic Surgery

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“…These findings parallel other histologic descriptions of affected aortic and arterial tissue in PHACE. 9,10,13,19 With extensive post-mortem microscopic examination in a PHACE patient with coarctation, Chad et al identified widespread aortic abnormalities including medial changes and fibro-intimal thickening. 13 Additionally, their case report identified diffuse arteriopathy in medium to large arteries without venous or small vessel disease found on histopathology.…”

Section: Discussionmentioning

confidence: 99%

“…4,23,27 A hemangioma pattern map with four facial segments corresponding to developmental facial prominences has been developed. 20 Prior publications have noted an ipsilateral association between aortic arch direction and cervicofacial hemangioma laterality 9,10 and hypothesized a relationship between mandibular hemangioma distribution and cardiovascular or midline anomalies. 23,27 Neither pattern was supported by our data.…”

Section: Discussionmentioning

confidence: 99%

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

Bayer

Frommelt

Blei

et al. 2013

The American Journal of Cardiology

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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.

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“…EMILIN2 protein expression has been demonstrated in the mouse heart and aorta (Doliana et al , 2001; Sa and Hoover-Plow, 2011). Fibrosis and decreased elastic fibers seen in aorta tissue after coarctation repair has been reported, suggesting that abnormalities in elastic fibers could potentially play a role in the pathogenesis of PHACE (Prada et al , 2010). …”

Section: Discussionmentioning

confidence: 99%

Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome

Siegel

Shieh

Kwon

et al. 2013

Journal of Investigative Dermatology

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PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis in 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres or did not contain genes. CNVs were defined as “rare” if not documented in the Database of Genomic Variants. Ten rare CNVs were discovered (size range: 134–406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in greater than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.

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Complex Aortic Coarctation and PHACE Syndrome

Cited by 6 publications

References 14 publications

eComment. Rare combination of aortic anomalies

eComment. Rare combination of aortic anomalies

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

Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome

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