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Case Reports
. 2023 Jun 30:13:100465.
doi: 10.1016/j.ijcchd.2023.100465. eCollection 2023 Sep.

An unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome

Madelien V Regeer  1   2 , J Lauran Stöger  3 , Regina Bökenkamp  1   4 , Inge M M Lakeman  5 , Mark G Hazekamp  1   6 , Philippine Kiѐs  1   2 , Anastasia D Egorova  1   2 , Monique R M Jongbloed  1   2   7
Affiliations
Case Reports

An unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome

Madelien V Regeer et al. Int J Cardiol Congenit Heart Dis. .

Abstract

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome.

Keywords: (Double) aortic arch; Aberrant right subclavian artery; Adult congenital heart disease; Clinical genetics; Embryology; PHACE syndrome; Vascular hypoplasia.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The patient gave her consent regarding this publication.

Figures

Fig. 1
Fig. 1
Figure 1: A, B: Angiography (A) and 3D model (B) of preoperative anatomy: right sided aortic arch (R AoA) with right carotid artery (RCA) and right subclavian artery (RSA) connecting towards the descending aorta (DAo). Left sided aortic arch (L AoA) with left carotid artery (LCA) and left subclavian artery (LSA) and interruption thereafter. In addition a collateral vessel (coll) possibly from the vertebrobasilair system to the descending aorta is observed. The interruption of the left-sided arch is indicated by an asterisk (*). C/D: Angiography (C) and 3D model (D) of postoperative anatomy: single remaining left sided aortic arch (L AoA) with right carotid artery (RCA), left carotid artery (LCA), left subclavian artery (LSA) and anomalous right subclavian artery (aRSA).
Fig. 2
Fig. 2
Figure 2: Transthoracic echocardiography of the aortic arch. A: 2 dimensional image of the arch (aRSA: anomalous right subclavian artery, DAo: descending aorta, L AoA: left-sided aortic arch, LCA: left carotid artery, LSA: left subclavian artery). B: Continuous Wave Doppler signal in descending aorta with peak forward flow rate of 3.5 m/s (gradient 49 mmHg) without diastolic run-off.
Fig. 3
Fig. 3
Figure 3: Anterior (A) and posterior (B) view of a cinematic 3D rendering of Computed Tomography Angiography illustrating the aortic arch with hypoplastic right carotid artery and anomalous right subclavian artery. (aRSA: anomalous right subclavian artery, DAo: descending aorta, L AoA: left-sided aortic arch, LCA: left carotid artery, LSA: left subclavian artery, RCA: right carotid artery).
Fig. 4
Fig. 4
Figure 4: Left anterior oblique view (A and B) and posterior view (C) of a cinematic 3D rendering of Computed Tomography Angiography illustrating a hypoplastic right external iliac artery (AIE) and interrupted right common femoral artery (*) with extensive arterial collaterals (coll) and spina bifida occulta (SBO).
Fig. 5
Fig. 5
Figure 5: Embryology of the aorta and tributaries. Embryological segments from which the different aortic components have originated, are color-coded according to the panel in the middle. A: 3D reconstruction showing an example of a double aortic arch (left-sided aortic arch (L AoA) and persisting right-sided aortic arch (R AoA), with left- and right-sided carotid artery (LCA and RCA) and left- and right-sided subclavian artery (LSA and RSA). B: Normal left aortic arch anatomy. In this case, a normal regression of the right-sided aortic arch has occurred, with persistence of a left-sided aortic arch (L AoA) with brachiocephalic trunk (nourishing the right subclavian artery (RSA) and right carotid artery (RCA),and a separate origin of the left carotid artery (LCA) and left subclavian artery (LSA). C,D: 3D reconstructions of the pre- and postoperative anatomy of the presented case, on which the embryological segments from which the different segments of the aorta have originated are superimposed by colors. C: preoperative anatomy (from anterior and posterior): double aortic arch with left-sided aortic arch (L AoA) with left carotid artery (LCA), left subclavian artery (LSA) and aortic interruption at the level of the alpha segment (beyond the LSA). Right-sided aortic arch (R AoA) with right carotid artery (RCA) and right subclavian artery (RSA). Collateral vessel (coll) possibly from the vertebrobasilar system to the descending aorta. D: postoperative anatomy: the left-sided arch interruption is restored by using the collateral vessel and a pericardial patch augmentation plasty (arrow). The rightsided aortic arch has been transsected between the right carotid artery (RCA) and the right subclavian artery (RSA) resulting in an anomalous course of the RSA (aRSA). Color coding derived from Ref. [3].
Fig. 6
Fig. 6
Figure 6: Diagnostic criteria for PHACE syndrome. Adopted from Garzon et al. [6].
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