Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.

Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that may involve medium-sized muscular arteries throughout the body. The majority of FMD patients are women. Although a variety of genetic, mechanical, and hormonal factors play a role in the pathogenesis of FMD, overall, its cause remains poorly understood.

Simultaneous spontaneous arterial dissections in a 38-year-old woman presenting during the covid-19 pandemic: a case report.

Background: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized and important cause of acute myocardial infarction, particularly in women under 50, often with minimal risk factors. Many patients have underlying arteriopathy, most commonly in the form of fibromuscular dysplasia.

Case Summary: A 38-year-old woman presented to the hospital with chest pain and elevated high-sensitivity Troponin.

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.

Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechanism, such as the recruitment of brain collateral arteries like posterior communicating arteries (PcomAs), remains unknown. Therefore, we applied exome and genome sequencing in a multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic brain small vessel ischemic disease and CADASIL-like Caucasian patients from US, Portugal, Finland, Serbia and Turkey and in 2 C57BL/6J stroke mouse models (bilateral common carotid artery stenosis [BCCAS] and middle cerebral artery occlusion [MCAO]), characterized by different degrees of PcomAs patency.

Invasive versus conservative management in spontaneous coronary artery dissection: A meta-analysis and meta-regression study.

Background: Data regarding the best treatment for spontaneous coronary artery dissection (SCAD) are limited. The aim of the present study was to compare the clinical outcomes of conservative versus invasive treatment in SCAD patients.

Methods: We systematically searched the literature for studies evaluating the comparative efficacy and safety of invasive revascularization versus medical therapy for the treatment of SCAD from 1990 to 2020.

Standing Waves on Computed Tomography Angiography in Multiple Vessels in a Young Trauma Patient.

Standing waves are a phenomenon of uncertain etiology seen on imaging. We present the first case demonstrating standing waves on computed tomography angiography in multiple vessels in a single patient with imaging evidence of resolution in some of the vessels. Our case further supports the literature that standing waves are a physiologic phenomenon, likely because of flow mechanics, rather than modality.

Cerebral aneurysms and cervical artery dissection: Neurological complications and genetic associations.

Dissections and aneurysms are two of the more common nonatherosclerotic arteriopathies of the cerebrovascular system and a significant contributor to neurovascular complications, particularly in the young. Specifically, ruptured intracranial aneurysms (IA) account for nearly 500,000 cases of subarachnoid hemorrhage annually with a 30-day mortality approaching 40% and survivors suffering often permanent neurologic deficits and disability. Unruptured IAs require dedicated assessment of risk and often warrant serial radiologic monitoring.

A Fibromuscular Dysplasia Clinical Tetrad of Coronary Artery Dissection, Cardiogenic Shock, Carotid Dissection, and Stroke.

Spontaneous coronary artery dissection is a serious and underreported clinical entity strongly associated with fibromuscular dysplasia (FMD). The female predominance of FMD may predispose many women to coronary artery dissection or other similar vascular pathologies. We present a case of a young woman who presented with a clinical tetrad of spontaneous coronary artery dissection, cardiogenic shock requiring extracorporeal membrane oxygenation, internal carotid dissections, and subacute cerebellar infarct secondary to underlying FMD.

A Rare Quadruple Association: Fibromuscular Dysplasia, Giant Splenic Artery Aneurysm, Extrahepatic Portal Hypertension, and Hypersplenism.

Unlabelled: Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular lesion. It is a very rare cause of splenic artery aneurysm (SAA). An 18-year-old girl presented with hematemesis, melena, pancytopenia, and splenomegaly.

[Molecular genetics of human hypertension].

A genetic influence on blood pressure was demonstrated more than 100 years ago and a simple Mendelian inheritance was initially presumed. Platt and Pickering conducted a lively debate on this topic. Platt favored the idea that a single gene or only a few genes were responsible for high blood pressure.

Long-term outcomes of kidney donors with fibromuscular dysplasia.

Background: Fibromuscular dysplasia (FMD) is a non-atherosclerotic systemic arterial disease that is not infrequently discovered during kidney donor evaluation. Current guidelines do not provide recommendations regarding the use of kidneys from donors with FMD and there is a paucity of data on the outcomes of these donors.

Methods: The Renal and Lung Living Donor Evaluation (RELIVE) study addressed long-term outcomes of 8922 kidney donors who donated between 1963 and 2007.

[Spontaneous coronary artery dissection].

Spontaneous coronary artery dissection Spontaneous coronary artery dissection (SCAD) is an increasingly recognized etiology of acute coronary syndrome (ACS) and an important cause of myocardial infarction in women. First described in 1931, SCAD is defined as a spontaneous tear in a coronary artery that is not associated with atherosclerosis, trauma or medical intervention. SCAD predominantly affects younger women, who often lack atherosclerotic risk factors.

Spontaneous cervical artery dissection and fibromuscular dysplasia: Epidemiologic and biologic evidence of a mutual relationship.

Cervical artery dissection (CeAD) is the most common cause of ischemic stroke in young and middle-aged adults. Over the last decade, a relation between CeAD and fibromuscular dysplasia (FMD), an idiopathic, segmental, non-atherosclerotic and non-inflammatory arterial disease, has been suggested based on a number of epidemiologic observations, while preliminary data support the idea that the two conditions may share common biologic mechanisms. In this article, we review the literature on the relation between CeAD and FMD, focus on the potential pathogenetic mechanisms common to the two conditions, summarize clinical features, management and outcome, and provide support to the hypothesis that the coexistence of the two diseases in one individual might be conceptualized as a distinct non-atherosclerotic non-inflammatory arteriopathy.

Clinical Features of Patients With Cervical Artery Dissection and Fibromuscular Dysplasia.

Background And Purpose: Observational studies have suggested a link between fibromuscular dysplasia and spontaneous cervical artery dissection (sCeAD). However, whether patients with coexistence of the two conditions have distinctive clinical characteristics has not been extensively investigated.

Methods: In a cohort of consecutive patients with first-ever sCeAD, enrolled in the setting of the multicenter IPSYS CeAD study (Italian Project on Stroke in Young Adults Cervical Artery Dissection) between January 2000 and June 2019, we compared demographic and clinical characteristics, risk factor profile, vascular pathology, and midterm outcome of patients with coexistent cerebrovascular fibromuscular dysplasia (cFMD; cFMD+) with those of patients without cFMD (cFMD-).

Carotid webs associated with ischemic stroke. Updated general review and research directions.

Carotid web (CaW) is an intimal variant of fibromuscular dysplasia strongly associated with ipsilateral cerebral infarction. Although considered rare, it is a recent and increasing concern for physicians involved in stroke diagnosis and management. The present general review relies on a systematic literature analysis and aims to update readers on the latest knowledge in the field of symptomatic CaW (syCaW).

Mesenteric Arteriovenous Dysplasia/Vasculopathy Mimicking Crohn's Disease: A Case Report.

Mesenteric arteriovenous vasculopathy (MAVD/V) is an extremely rare and poorly understood disease and its incidence is probably underestimated. It is an uncommon, non-inflammatory and non-atherosclerotic form of mesenteric vascular injury, first reported in 2016, with characteristic histopathologic evidence of fibromuscular dysplasia-like vascular changes. We present the case of a chronically ill 84-year-old female with a 5 year history of recurrent small bowel obstruction, who underwent segmental resection of the small bowel.

Three broken vessels in a peripartum patient: a rare case report of spontaneous triple vessel coronary artery dissection.

Background: Spontaneous coronary artery dissection (SCAD) is a frequently underdiagnosed entity that carries a significant risk of morbidity and mortality. Spontaneous coronary artery dissection is increasingly recognized as an important cause of acute coronary syndrome (ACS) and, the majority of SCAD patients are young healthy women.

Case Summary: A 23-year-old female G5P4 presented to the emergency room for severe sub-sternal chest pain, associated with shortness of breath.

Renovascular hypertension in children.

Paediatric hypertension, defined as systolic blood pressure > 95th percentile for age, sex and height is often incidentally diagnosed. Renovascular hypertension (RVH) is responsible for 5-25% of hypertension in children. Renal artery stenosis and middle aortic syndrome can both can be associated with various conditions such as fibromuscular dysplasia, Williams syndrome & Neurofibromatosis type 1.

Carotid Artery Stenting for Carotid Arterial Fibromuscular Dysplasia Evaluated Vascular Wall Structure Using Optical Coherence Tomography: A Case Report.

Objective: Fibromuscular dysplasia (FMD) is often diagnosed based on angiography. However, it is difficult to distinguish from vasculitis by angiography. Therefore, it is important to evaluate the detailed intravascular findings of lesions in FMD using optical coherence tomography (OCT).

[Fibromuscular dysplasia and its neurological manifestations].

The authors present the current data on the classification, epidemiology, etiology, neurological manifestations, prognosis, diagnosis, and treatment of patients with fibromuscular dysplasia (FMD). The review is based on the selection of publications by searching PubMed for keywords from the first sources until March 2019. FMD is a segmental non-atherosclerotic and non-inflammatory disease of large- and medium-caliber arteries leading to their stenosis.