Clinical phenotype of adolescent and adult patients with extracranial vascular malformation.

OBJECTIVE: In recent years, genotypic characterization of congenital vascular malformations (CVMs) has gained attention; however, the spectrum of clinical phenotype remains difficult to attribute to a genetic cause and is rarely described in the adult population. The aim of this study is to describe a consecutive series of adolescent and adult patients in a tertiary center, where a multimodal phenotypic approach was used for diagnosis. METHODS: We analyzed clinical findings, imaging, and laboratory results at initial presentation, and set a diagnosis according to the International Society for the Study of Vascular Anomalies (ISSVA) classification for all consecutively registered patients older than 14 years of age who were referred to the Center for Vascular Malformations at the University Hospital of Bern between 2008 and 2021. RESULTS: A total of 457 patients were included for analysis (mean age, 35 years; females, 56%). Simple CVMs were the most common (n = 361; 79%), followed by CVMs associated with other anomalies (n = 70; 15%), and combined CVMs (n = 26; 6%). Venous malformations (n = 238) were the most common CVMs overall (52%), and the most common simple CVMs (66%). Pain was the most frequently reported symptom in all patients (simple, combined, and vascular malformation with other anomalies). Pain intensity was more pronounced in simple venous and arteriovenous malformations. Clinical problems were related to the type of CVM diagnosed, with bleeding and skin ulceration in arteriovenous malformations, localized intravascular coagulopathy in venous malformations, and infectious complications in lymphatic malformations. Limb length difference occurred more often in patients with CVMs associated with other anomalies as compared with simple or combined CVM (22.9 vs 2.3%; P < .001). Soft tissue overgrowth was seen in one-quarter of all patients independent of the ISSVA group. CONCLUSIONS: In our adult and adolescent population with peripheral vascular malformations, simple venous malformations predominated, with pain as the most common clinical symptom. In one-quarter of cases, patients with vascular malformations presented with associated anomalies on tissue growth. The differentiation of clinical presentation with or without accompanying growth abnormalities need to be added to the ISSVA classification. Phenotypic characterization considering vascular and non-vascular features remains the cornerstone of diagnosis in adult as well as pediatric patients.

Angioarchitecture and hemodynamics of microvascular arterio-venous malformations.

INTRODUCTION: Arteriovenous malformations (AVMs) are characterized by pathological high flow, low resistance connections between arteries and veins. Treatment is critically dependent on correct interpretation of angioarchitectural features. However, some microfistular AVMs do not match the characteristics described in current AVM classification systems. Therefore, we propose a new subgroup of microfistular AVMs, composed of enlarged, fistulous paths on the venous half of capillaries and/or dilated draining venules (hyperdynamic, capillary-venulous malformation [CV-AVM]). CV-AVMs still ensure arterial flow to the periphery and fistulous venous drainage is less pronounced than in classical AVMs such that these lesions are often misinterpreted as venous malformations. MATERIALS AND METHODS: We developed a computational model to study the effects of microvascular anomalies on local hemodynamics, as well as their impact on angiographic contrast propagation. Flow rates and pressures were computed with a lumped parameter description, while contrast propagation was determined by solving the 1D advection-diffusion equation. RESULTS AND CONCLUSIONS: For the newly proposed CV-AVM angioarchitecture, the computational model predicts increased arterio-venous contrast agent transit times and highly dispersive transport characteristics, compared to microfistular, interstitial type IV AVMs and high flow type II and III AVMs. We related these findings to time-contrast intensity curves sampled from clinical angiographies and found that there is strong evidence for the existence of CV-AVM.

Lesion Pattern in Patients With Erectile Dysfunction of Suspected Arterial Origin: An Angiographic Study.

PURPOSE: To determine the specific lesion pattern of supplying arteries in patients with cardiovascular risk factors suffering from treatment-refractory erectile dysfunction (ED). METHODS: From May 2012 to August 2013, 26 men (median age 55 years) poorly responsive to phosphodiesterase-5 inhibitor therapy were evaluated for a possible vascular cause for their ED. The men were examined with penile duplex sonography and digital subtraction angiography (DSA). Arterial lesions in the common and internal iliac arteries and the internal pudendal arteries considered amenable to endovascular therapy were treated with angioplasty ± stents. Retrospectively, 2 blinded investigators independently evaluated the DSA images and categorized the vascular patterns of the erection-related arteries as normal, macroangiopathy (occlusive lesions of the internal pudendal arteries), or microangiopathy (smaller caliber arteries distal to the internal pudendal circulation with no distal arterial reconstitution). RESULTS: Seventeen macroangiopathic lesions were successfully treated by angioplasty in 11 patients. The treated arterial lesions were mainly located in the internal (n=10) and common iliac arteries (n=2), whereas the internal pudendal artery were involved in 5 cases. Microangiopathic lesions lacking distal reconstitution were present in 7 patients, and the remaining 8 patients had normal vessels supplying the penis. Patients with macroangiopathy undergoing angioplasty had a higher prevalence of peripheral artery disease (63.6% vs 6.7%, p=0.003). CONCLUSION: In this preliminary series of ED patients with cardiovascular risk factors and pathologic duplex sonographic flow parameters, roughly 40% exhibited arterial lesions amenable to endovascular revascularization. In the patients with macroangiopathy, vessels upstream of the internal pudendal artery were most commonly affected. More studies are warranted to define the role of endovascular procedures in this ED subpopulation.