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Italian Journal of Vascular and Endovascular Surgery 2021 March;28(1):10-9

DOI: 10.23736/S1824-4777.21.01487-X

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

Genetic testing in vascular and lymphatic malformations

Stefano PAOLACCI 1 , Raul E. MATTASSI 2, Daniela CAVALCA 3, Sandro MICHELINI 4, Alessandra ZULIAN 1, Francesca CRISTOFOLI 5, Elena MANARA 5, Giuseppe MARCEDDU 5, Matteo BERTELLI 1, 5

1 MAGI’s Lab, Rovereto, Trento, Italy; 2 Center for Vascular Malformations “Stefan Belov”, Humanitas Mater Domini, Castellanza, Varese, Italy; 3 Unit of Laser Surgery Operating, Department of Plastic Surgery, San Rocco Clinical Institute, Ome, Brescia, Italy; 4 Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy; 5 MAGI Euregio, Bolzano, Italy



Vascular malformations include disorders characterized by morpho-functional alterations of blood and lymph vessels and affect around 0.3% of the population. Three main classifications are currently used to categorize vascular malformations. The International Society for the Study of Vascular Anomalies classifies vascular malformations on the basis of the malformed vessel. Another classification is based on when the malformation arises during development, whether in the early stages of embryogenesis (extratruncular) or in the later stages (truncular malformation). The third classification is based on blood or lymph pressure under physiological conditions: fast-flow malformations (arterial and arteriovenous malformations, arteriovenous fistula) and slow-flow lesions (capillary, venous and lymphatic malformations). Autosomal dominant and recessive inheritance have been described for vascular malformations, although most have sporadic onset due to somatic mutations. The aim of this narrative review was to summarize the vascular malformations classified according to the ISSVA Classification for which the associated gene is known, and discuss the best approach for the genetic tests relevant to vascular malformations.


KEY WORDS: Vascular malformations; Germ-line mutation; Genetic testing

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