Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

Young Lim; Arash Fereydooni; Anand Brahmandam; Alan Dardik; Keith Choate; Naiem Nassiri

doi:10.1016/j.jvscit.2020.05.013

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

J Vasc Surg Cases Innov Tech. 2020 Jun 25;6(3):438-442. doi: 10.1016/j.jvscit.2020.05.013. eCollection 2020 Sep.

Authors

Young Lim^{1

2}, Arash Fereydooni³, Anand Brahmandam³, Alan Dardik³, Keith Choate^{1

2}, Naiem Nassiri^{1

3}

Affiliations

¹ Vascular Malformations Program (VaMP), Yale New Haven Hospital, New Haven, Conn.
² Department of Dermatology, Yale University School of Medicine, New Haven, Conn.
³ Division of Vascular and Endovascular Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn.

Abstract

Anomalous marginal veins of the trunk or extremities are congenitally incompetent entities found in association with phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal deformities (CLOVES) syndrome. When present, they can be a major source of venous hypertension-related morbidity and potentially lethal thromboembolic events. Herein, we describe a rare case of an upper extremity marginal vein in a patient with CLOVES syndrome. Through a multimodal therapeutic approach, we identified a somatic PIK3CA mutation in the excised anomalous vein. This finding questions the validity of commonly employed terminology, such as persistent embryonic vein, in reference to these anomalous entities.

Keywords: CLOVES syndrome; Coil embolization; Marginal veins; PIK3CA.

Publication types

Case Reports

Abstract

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