Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the Modern Era-A Comprehensive Review

Abstract

Congenital vascular malformations (CVMs) are the result of an aberrant development during embryogenesis. Although these lesions are present at birth, they are not always visible yet. Once symptomatic, patients suffer from pain, bleeding, ulcers, infections or lymphatic leakage, depending on the subtype of vessels involved. Treatment includes conservative management, surgery, sclerotherapy, embolization and pharmacological therapy. The clinical presentation varies widely and treatment can be challenging due to the rarity of the disease and potential difficulties of treatment. This review gives an overview of the historical developments in diagnosis and classification and exposes the key elements of innovations in the past decades on the identification of genetic mutations and personalized treatment. These advances in the field and a multidisciplinary approach are highly valuable in the optimization of clinical care aimed at both curing or stabilizing the CVM and pursuing physical and psychosocial wellbeing.

Keywords: arteriovenous malformations; congenital vascular malformations; health-related quality of life; lymphatic malformations; pediatric surgery; sclerotherapy; sirolimus; venous malformations.

Figure 1

Classification of AVM angioarchitecture as proposed by Yakes et al. [17]; A = arterial vasculature (red), V = venous vasculature (blue); Type I: direct arteriovenous fistula. Type II: multiple inflow arteries into a nidus pattern with direct artery/arteriolar to vein/venular structures that may, or may not, be aneurysmal. Type IIIa: multiple arteries/arterioles into an enlarged aneurysmal vein with an enlarged outflow vein. Type IIIb: multiple arteries/arterioles into an enlarged aneurysmal vein with multiple dilated outflow veins. Type IV: innumerable micro-AV connections infiltrating an entire tissue.

Figure 2

Ex-utero intrapartum treatment.

Figure 3

Examples of cases of AVM embolization [54]; (A1,A2) AVM type I in the face ((A1) before embolization, (A2) total occlusion after embolization); (B1,B2) AVM type II in the thumb ((B1) before embolization, (B2) partial occlusion after embolization); (C1–C3) AVM type IIIa in the lower extremity ((C1) before embolization, (C2) venous outflow before embolization, (C3) total occlusion after embolization); (D1,D2) AVM type IIIb in the knee (D1) before embolization, (D2) total occlusion after embolization); (E1,E2) AVM type IV in the ear (E1) before embolization, (E2) near-total occlusion after embolization).