Vascular Tumors and Malformations aka ”Vascular Anomalies” Steven M. Dean, DO, FACP, RPVI Professor of Clinical Internal Medicine Division of Cardiovascular Medicine The Ohio State University Wexner Medical Center

Classification Vascular Anomalies Tumors Malformations

Vascular Malformations Hemangioma Cavernous hemangioma Birthmarks (naevi) Port-wine stains Cystic hygroma Archaic Terminology: The reason for this confusion is the inconsistent…

Mulliken JB, Glowacki J (1982) Plast Reconstr Surg 69:412–422. Vascular Anomalies Hemangiomas are true neoplastic disorders/vascular tumors and pathohistologically demonstrate increased endothelial cell turn over rate; not present at birth & appear later in infancy. Vascular malformations arise by dysmorphogenesis without increased endothelial proliferation; always present at birth [may not be clinically apparent] Mulliken JB, Glowacki J (1982) Plast Reconstr Surg 69:412–422.

Hemangioma of Infancy [HOI] Classification Vascular Anomalies Tumors Malformations Hemangioma of Infancy [HOI] Congenital hemangiomas Other

Hemangioma of Infancy Retroauricular infantile hemangioma: Not present during birth but appear later in infancy Proliferative phase during the first year of life Spontaneous involution typically by age 10 Retroauricular infantile hemangioma: 1 year 6 years Boon LM, Enjolras O, Mulliken JB.. J Pediatr 1996;128:329-35.

Vascular Malformations Definition “Embryologically developed, inborn errors of vascular morphogenesis leading to true structural anomalies”1 Capillary Arterio venous Venous Let’s start out by clarifying exactly what we mean by the term “vascular malformation” The definition is “……” Clinically, this translates into a diverse family of syndromes and lesions. The arteriovenous malformation, or AVM, the low flow malformations, including venous, capillary, and lymphatic, and the syndromes, such as Klippel-Trenaunay, that combine several of these elements Lymphatic KTS 1. Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations in infants and children. A classification based on endothelial characteristics. Plast Reconstr Surg 69:412–422.

Vascular Malformations Etiology: Abnormal cell signaling in 1st trimester Genetic predilection1 in some but not all Spectrum of disorders ranging from minimal to fatal Overall Incidence = 1.2-1.5% The etiology of these entities has not been clearly delineated, but there is a definited genetic component. Molecular studies demonstrate that VMs are caused by “…..” 1. Cohen, M.M., Jr., Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations. Am J Med Genet, 2002. 108(4): p. 265-74.

Vascular Malformations Classification: Extratruncular VMs: -originate during early stages of embryogenesis -masses of abnormal small/mid-sized vessels infiltrating tissues -tendency to progress/recur Truncular VMs: -originate during late stages of embryogensis -defects of fully formed and often named vessels -hemodynamic significance Both types can coexist

Modified Hamburg Classification of Congenital Vascular Malformations Below ST. Sem Vasc Surgery 1993;6:219-224.

Modified Hamburg Classification of Congenital Vascular Malformations Both types can coexist Below ST. Sem Vasc Surgery 1993;6:219-224.

Classification Vascular Anomalies Tumors Malformations Fast Flow (AVM/AVF) Low Flow Combined Lymphatic Venous As a group, Low Flow Malformations are less aggressive than High Flow Malformations, and grow with the patient (not progressive) Capillary

Capillary Malformations

Lee, B.B.,. Ann Vasc Surg, 2004. 18(3): p. 380-92. Venous Malformations Clinical Features: Pain, swelling Varicosities or bluish skin discoloration Soft and easily compressible lesions Drain w/elevation Bleeding and/or thrombosis May be trivial or extensive Osteomuscular hypertrophy Lee, B.B.,. Ann Vasc Surg, 2004. 18(3): p. 380-92.

Low Flow Vascular Malformations Klippel-Trenaunay Syndrome Triad: Osteomuscular hypertrophy Capillary malformations (“port wine stain”) Venous + lymphatic lesions Gloviczki, P., et al., Surgery, 1991. 110(3): p. 469-79.

Lateral or marginal embryonic vein Lateral aspect of extremity Truncular VM subtype Avalvulosis Severe reflux DVT risk Hallmark of KTS –venous component Lee BB. Phlebolymphology 2012;19(4):170-181

Low Flow Malformations: Diagnosis Aplasia or hypoplasia of deep venous trunks Present in 8 % of VM patients (with venous predominance)3 Prevalence of deep venous anomalies is even higher in patients with KTS Lee, B.B., Ann Vasc Surg, 2004. 18(3): p. 380-92.

High Flow Malformations Lidsky, Shortell, et al JVS in press

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