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

Madelien V Regeer; J Lauran Stöger; Regina Bökenkamp; Inge M M Lakeman; Mark G Hazekamp; Philippine Kiѐs; Anastasia D Egorova; Monique R M Jongbloed

doi:10.1016/j.ijcchd.2023.100465

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

Int J Cardiol Congenit Heart Dis. 2023 Jun 30:13:100465. doi: 10.1016/j.ijcchd.2023.100465. eCollection 2023 Sep.

Authors

Madelien V Regeer^{1

2}, J Lauran Stöger³, Regina Bökenkamp^{1

4}, Inge M M Lakeman⁵, Mark G Hazekamp^{1

6}, Philippine Kiѐs^{1

2}, Anastasia D Egorova^{1

2}, Monique R M Jongbloed^{1

2

7}

Affiliations

¹ CAHAL, Center for Congenital Heart Disease Amsterdam Leiden, Leiden University Medical Center, Leiden, the Netherlands.
² Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
³ Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
⁴ Department of Paediatric Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
⁵ Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
⁶ Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, the Netherlands.
⁷ Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands.

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.

Publication types

Case Reports