Search

A carotid web (CaW) is an atypical form of fibromuscular dysplasia characterized by a fibrous, shelf-like intimal flap originating from the posterior wall of the internal carotid bulb projecting into the arterial lumen. CaWs disturb normal blood flow and create stasis between the intimal reflection and the carotid wall, thereby promoting thrombogenesis and increasing the risk of downstream embolic strokes. Observational data have suggested that CaWs are associated with strokes with otherwise unknown etiology, particularly in young patients without other stroke factors, and stroke recurrence rates of symptomatic CaWs have been reported to be as high as 20% over 2 years. Despite its clinical importance, there are currently no clear guidelines on the management of CaWs. In this narrative review, we discuss the epidemiology, pathogenesis, pathophysiology, diagnosis, and treatment options for this under-recognized entity., Competing Interests: Competing interests: EN receives consulting fees from Rapid Medical and Longeviti, serves on the medical board of Longeviti, and holds stock equity or options in Rapid Medical and Longeviti. PK receives research grants from the National Institutes of Health, Siemes, Joe Niekro Foundation, and Medtronic; receives consulting fees from Stryker Neurovascular; serves on the editorial board of the Journal of NeuroInterventional Surgery; and holds stock equity or options in Vena Medical, Deinde, Prometheus, Neurofine, and Vented. HC, MCol, and MCos have no relevant disclosures., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To highlight the clinical and diagnostic importance of correctly identifying cervical internal carotid artery fenestration (fcICA), an extremely rare vascular anomaly, and to present a case where fcICA was initially misdiagnosed as a dissection in a patient with fibromuscular dysplasia (FMD)., Methods: A 47-year-old woman with pulsatile tinnitus underwent computed tomography angiography (CTA) and digital subtraction angiography (DSA) to differentiate between fenestration and dissection of the internal carotid artery., Results: CTA revealed a fusiform dilatation of the distal C1 segment of the right internal carotid artery (ICA) with a linear filling defect, suggesting either fenestration or dissection. DSA confirmed the presence of a fenestrated right ICA segment composed of two symmetrical, smooth-walled limbs without a dissection flap, along with signs of FMD in the proximal vessel. The patient's symptoms were attributed to local flow perturbations induced by fcICA and FMD., Conclusion: This case illustrates that fcICA can be a true anatomical variant rather than a result of dissection, emphasizing the need for accurate imaging and diagnosis to avoid unnecessary treatments. The coexistence of fcICA with FMD increases the risk of dissection, necessitating careful monitoring. The distinction between fenestration and pseudofenestration remains challenging, requiring comprehensive imaging and close collaboration between radiologists and vascular neurologists., (© 2024. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

Fibromuscular dysplasia (FMD) is a disease of the musculature of arterial walls leading to stenoses, aneurysms, and dissections. The purpose of this report was to summarize the evidence for (1) one-time routine imaging from brain-to-pelvis and (2) lifelong antiplatelet therapy, for example, aspirin, for patients diagnosed with FMD as suggested by an international consensus report from 2019. PubMed was systematically searched, and the evidence providing a basis for the current consensus points, as well as articles published since, were reviewed. In four registries evaluating patients with FMD, the prevalence of multivessel involvement, aneurysms, and dissections was reported to be 43.5%-66.3%, 21.6%-30.6%, and 5.6%-28.1%, respectively. Any antiplatelet drug was used in 72.9% of patients, and aspirin was prescribed in up to 70.2% of patients. Based on the high prevalence of vascular manifestations, their associated morbidity, and the potential for endovascular or surgical intervention, the suggestion of one-time brain-to-pelvis screening with computed tomography angiography or magnetic resonance angiography is well supported. Contrarily, the evidence to support the consensus statement of lifelong antiplatelet therapy to all patients in the absence of contraindications is more uncertain since a beneficial effect has not been demonstrated specifically in patients with fibromuscular dysplasia. Therefore, until the efficacy and safety of primary thromboprophylaxis have been demonstrated in this patient group specifically, it may be equally appropriate to only use antiplatelet agents in patients with a clear indication after individual evaluation according to risk factors for thrombotic and thromboembolic complications., (© 2024 The Author(s). The Journal of Clinical Hypertension published by Wiley Periodicals LLC.)

Background: Spontaneous coronary artery dissection (SCAD) is a multifactorial process that involves predisposing factors and precipitating stressors. Genetic abnormality has been implicated to play a mechanistic role in the development of SCAD. This systematic review aims to summarize the current evidence concerning the link between SCAD and genetic abnormalities., Methods: We reviewed original studies published until May 2023 that reported SCAD patients with a genetic mutation by searching PubMed, Embase Ovid, and Google Scholar. Registries, cohort studies, and case reports were included if a definitive SCAD diagnosis was reported, and the genetic analysis was performed. Exclusion criteria included editorials, reviews, letters or commentaries, animal studies, meeting papers, and studies from which we were unable to extract data. Data were extracted from published reports., Results: A total of 595 studies were screened and 55 studies were identified. Among 116 SCAD patients with genetic abnormalities, 20% had mutations in the COL gene, 13.70% TLN1 gene, and 8.42% TSR1 gene. Mutations affecting the genes encoding COL and TLN1 were most frequently reported (20 and 13.7%, respectively). Interestingly, 15 genes of this collection were also reported in patients with thoracic aortic diseases as well. The genetic commonality between fibromuscular dysplasia (FMD) and SCAD was also included., Conclusion: In this review, the inherited conditions and reported genes of undetermined significance from case reports associated with SCAD are collected. A brief description of the encoded protein and the clinical features associated with pathologic genes is provided. Current data suggested that the diagnostic yield of genetic studies for patients with SCAD would be low and routine genetic screening of such patients with no clinical features indicative of associated disorders remains debatable. This review can be used as a guide for clinicians to recognize inherited syndromic and nonsyndromic disorders associated with SCAD., (Copyright © 2024 Italian Federation of Cardiology - I.F.C. All rights reserved.)

Systemic vascular involvement in children with cerebral arteriopathies is increasingly recognized and often highly morbid. Fibromuscular dysplasia (FMD) represents a cerebral arteriopathy with systemic involvement, commonly affecting the renal and carotid arteries. In adults, FMD diagnosis and classification typically relies on angiographic features, like the 'string-of-beads' appearance, following exclusion of other diseases. Pediatric FMD (pFMD) is considered equivalent to adult FMD although robust evidence for similarities is lacking. We conducted a comprehensive literature review on pFMD and revealed inherent differences between pediatric and adult-onset FMD across various domains including epidemiology, natural history, histopathophysiology, clinical, and radiological features. Although focal arterial lesions are often described in children with FMD, the radiological appearance of 'string-of-beads' is highly nonspecific in children. Furthermore, children predominantly exhibit intimal-type fibroplasia, common in other childhood monogenic arteriopathies. Our findings lend support to the notion that pFMD broadly reflects an undefined heterogenous group of monogenic systemic medium-or-large vessel steno-occlusive arteriopathies rather than a single entity. Recognizing the challenges in categorizing complex morphologies of cerebral arteriopathy using current classifications, we propose a novel term for describing children with cerebral and systemic vascular involvement: 'cerebral and systemic arteriopathy of childhood' (CSA-c). This term aims to streamline patient categorization and, when coupled with advanced vascular imaging and high-throughput genomics, will enhance our comprehension of etiology, and accelerate mechanism-targeted therapeutic developments. Lastly, in light of the high morbidity in children with cerebral and systemic arteriopathies, we suggest that investigating for systemic vascular involvement is important in children with cerebral arteriopathies., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Introduction: Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic cause of myocardial infarction. Migraine headache has been reported to be common among patients with SCAD, but the degree of migraine-related disability has not been quantified., Methods: Clinical data and headache variables were obtained from the baseline assessment of the prospective, multicenter iSCAD Registry. Migraine-related disability was quantified using the self-reported Migraine Disability Assessment (MIDAS). Demographic, clinical, psychosocial, and medical characteristics from data entry forms were compared between patients with and without migraine., Results: Of the 773 patients with available data, 46% reported previous or current migraines. Those with migraines were more likely to be women (96.9% vs 90.3%, p = 0.0003). The presence of underlying carotid fibromuscular dysplasia was associated with migraine (35% vs 27%, p = 0.0175). There was not a significant association with carotid artery dissection and migraine. Current migraine frequency was less than monthly (58%), monthly (24%), weekly (16%), and daily (3%). Triptan use was reported in 32.5% of patients, and 17.5% used daily migraine prophylactic medications. Using the MIDAS to quantify disability related to migraine, 60.2% reported little or no disability, 14.4% mild, 12.7% moderate, and 12.7% severe. The mean MIDAS score was 9.9 (mild to moderate disability). Patients with SCAD had higher rates of depression and anxiety (28.2% vs 17.7% [ p = 0.0004] and 35.3% vs 26.7% [ p = 0.0099], respectively)., Conclusions: Migraines are common, frequent, and a source of disability in patients with SCAD. The association between female sex, anxiety, and depression may provide some insight for potential treatment modalities., Competing Interests: Declaration of conflicting interestsThe authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Dr Malissa Wood is a member of the Scientific Advisory Board of SCAD Alliance; she has no relationships with industry. Dr Gerald Chi receives unrelated research grant support paid to the Beth Israel Deaconess Medical Center, Harvard Medical School from Portola Pharmaceuticals, Bayer, Janssen Scientific Affairs, and CSL Behring. Dr Daniella Kadian-Dodov receives unrelated research support from Philips Healthcare; she is a consultant for Boston Scientific; and receives honoraria for participation in educational conferences from Abbott Laboratories and Boston Scientific. Katherine Leon is co-founder and Board Chair of SCAD Alliance; she has no relationships with industry. Dr Sahar Naderi is a member of the Scientific Advisory Board of SCAD Alliance; she has no relationships with industry. Dr Esther Kim is the Chair of the Scientific Advisory Board of SCAD Alliance; she has no relationships with industry. All remaining authors have no disclosures.

A male patient presented with cardiac arrest attributed to anterior ST-segment elevation myocardial infarction from type 1 spontaneous coronary artery dissection. Subsequent imaging confirmed fibromuscular dysplasia in noncoronary arterial segments. The patient was started on guideline-directed medical therapy and referred to cardiac rehabilitation, showing substantial improvements in clinical status. With greater awareness and advancements in imaging, spontaneous coronary artery dissection has been more frequently recognized, and although as many as 81% to 92% of all cases occur in female patients, it can be seen among men, as well. Adjunctive imaging for arteriopathies may help establish the diagnosis for equivocal causes of acute coronary syndrome in women and men., (© 2024 The Authors. Published by The Texas Heart Institute®.)

Intrinsic pathologies of the vertebral arteries, such as atherosclerosis, dissection, fibromuscular dysplasia, radionecrosis and vasculitis, are important causes of vertebrobasilar insufficiency and cerebrovascular events. This review focuses on non-aneurysmal intrinsic stenosing and occlusive pathologies, covering their epidemiology, diagnosis, and treatment options. It also provides a detailed summary of key clinical presentations and syndromes, including an in-depth examination of lateral medullary syndrome, historically known as Wallenberg's syndrome, which is arguably the most emblematic condition resulting from vertebral artery involvement and is depicted in an illustrative cartoon., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Background: The etiology and significance of coronary artery tortuosity (TCA) among patients with spontaneous coronary artery dissection (SCAD) are unknown. The aim of this prospective imaging cohort study was to report echocardiographic findings and evaluate whether TCA correlates with cardiac anatomy and function among patients with SCAD. Comorbidities including fibromuscular dysplasia (FMD) and outcomes were also assessed., Methods: TCA was determined on coronary angiography performed during the diagnosis of SCAD, and cardiac structure and function were evaluated using prospective comprehensive echocardiography., Results: Among 116 patients with SCAD, the mean age at echocardiography was 50.8 ± 8.8 years, a median of 10.9 months after SCAD. Sixty-two patients (53.4%) had FMD, 41 (35.3%) had histories of hypertension, and 17 (14.8%) were hypertensive during echocardiography. Most patients (n = 78 [69%]) had normal left ventricular geometry with normal median ejection fraction (61%; interquartile range, 56% to 64%) and normal global longitudinal strain (-22.2%; interquartile range, -24.0% to -19.9%). Fifteen patients (13.4%) had diastolic dysfunction that was associated with hypertension at the time of echocardiography. Patients with TCA (n = 96 [82.8%]) were older (mean age, 52.1 ± 8.0 vs 44.7 ± 9.9 years; P < .001) with a higher prevalence of FMD (59.4% vs 25%, P = .007) but a similar prevalence of hypertension (35% vs 35%, P > .99) compared with patients without TCA. Across the age range (31.5 to 66.9 years), each decade of age was associated with an approximately 0.89-unit increase in coronary tortuosity score (P < .0001). Echocardiographic parameters were not significantly different between the two groups. Median follow-up duration was 4.4 years (95% CI, 3.8 to 5.2 years). The Kaplan-Meier 3-year SCAD recurrence rate was 9.4% (95% CI, 3.7% to 14.8%). There were no deaths., Conclusions: The majority of patients with SCAD had normal or near normal echocardiographic results, including global longitudinal strain, with no differences according to TCA. However, patients with SCAD with TCA were older, with a higher prevalence of FMD., Competing Interests: Conflicts of Interest None., (Copyright © 2024 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Spontaneous coronary artery dissection (SCAD) is diagnosed in a very small percentage of patients with suspected acute coronary syndromes who undergo emergency coronary angiography. Although fibromuscular dysplasia (FMD) is known to coexist in patients with SCAD, the vascular sites of FMD and their frequency have not yet been clarified. We retrospectively reviewed the medical records of 16 patients who were diagnosed with and treated for SCAD at our hospital between 1 January 2011 and 31 January 2023. We have summarized their baseline and clinical characteristics and medical variables, including coronary and upper extremity angiography and in-hospital outcomes. One of our patients had concurrent cardiac tamponade requiring pericardial drainage, and another went into hemorrhage shock the following day from dissection of the gastric retroperitoneal artery. Characteristic angiographic features of partial or diffuse nonatherosclerotic stenosis were observed mainly in the distal parts of the coronary arteries or their branches. Notably, in six patients with SCAD who underwent upper extremity angiography, FMD of the brachial artery was revealed. For the first time, to our knowledge, we found a high prevalence of multifocal FMD of the brachial artery in patients with SCAD., (© 2023. Springer Nature Japan KK, part of Springer Nature.)

BACKGROUND Atherosclerotic renal artery stenosis (ARAS) and renovascular fibromuscular dysplasia (FMD) are 2 of the most common etiologies of renovascular hypertension. They have different pathophysiologies, risk factors, presentations, and treatment options. However, as our population ages, it can become increasingly common to see patients who previously had FMD who develop ARAS at an advanced age, indicated by recurrent renovascular hypertension. CASE REPORT We present a case of a 66-year-old female patient who, in 2007, had presented with uncontrolled hypertension. She underwent magnetic resonance angiography and was found to have bilateral FMD, for which she received balloon angioplasty to a severe lesion on the mid-right renal artery and subsequently had normalization of blood pressures and resolution of symptoms. In 2021 she returned with uncontrolled hypertension while being treated with 3 antihypertensives. Bilateral renal arteriography revealed new severe ostial stenosis of the left renal artery and a patent right renal artery in which balloon angioplasty was performed 14 years ago. Based on the angiographic pattern of this new left RAS, we concluded this lesion was caused by atherosclerosis. The left ostial lesion was treated with a bare-metal stent and the patient was continued on antihypertensive medication and statin; at follow-up 4 months later, her blood pressures had normalized. CONCLUSIONS This case features a patient who developed severe ARAS with underlying history of bilateral renal artery FMD. Clinicians need to be aware that in patients with FMD, worsening renovascular hypertension at an advanced age could indicate the development of new hemodynamically significant ARAS. These patients need repeat diagnostic testing and treatment with medial optimization with or without endovascular revascularization in the appropriate clinical setting.

Competing Interests: Competing interests: None declared.

Spontaneous coronary artery dissection (SCAD) is a rare clinical entity, often presenting similar to atherosclerotic acute coronary syndrome (ACS), although it is a non-atherosclerotic, non-traumatic, and non-iatrogenic coronary artery pathology. We report the case of a 36-year-old woman who presented with substernal, pressure-like chest pain without aggravating, alleviating, or associated symptoms. Initial evaluation revealed elevated troponin levels which peaked at 8.71 ng/mL. Electrocardiogram showed borderline J point elevation in the lateral leads. A transthoracic echocardiography revealed mild left ventricular dysfunction with an estimated ejection fraction of 45% to 50%, an akinetic apex with hyperdynamic basal segments, suggestive of stress cardiomyopathy. However, a left anterior descending artery (LAD) infarction could not be excluded. Emergent coronary angiography revealed SCAD of the LAD. No coronary interventions were performed. The patient was managed medically with dual antiplatelet therapy and beta-blockers. Given the high suspicion for fibromuscular dysplasia (FMD), computed tomographic angiography (CTA) of the head to pelvis was performed. The CTA neck showed bilateral focal areas of mild stenosis and dilation of the distal cervical internal carotid artery, and CTA abdomen revealed multiple splenic artery aneurysms, diagnostic of FMD. Unlike atherosclerotic ACS, our patient was managed medically without percutaneous intervention. This case illustrates the rare occurrence of myocardial injury due to SCAD which results in spontaneous intramural hematoma formation rather than atherosclerotic plaque rupture typically seen in ACS. FMD remains the most commonly associated condition with SCAD., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Competing Interests: The authors report no conflict of interest.

Artery stenosis is a common cause of hypertension and stroke and can be due to atherosclerosis accumulation in the majority of cases and in a small fraction of patients to arterial fibromuscular dysplasia (FMD). Artery stenosis due to atherosclerosis is widely studied with known risk factors (e.g. increasing age, male gender, and dyslipidemia) to influence its etiology, including genetic factors. However, the causes of noninflammatory and nonatherosclerotic stenosis in FMD are less understood. FMD occurs predominantly in early middle-age women, a fraction of the population where cardiovascular risk is different and understudied. FMD arteriopathies are often diagnosed in the context of hypertension and stroke and co-occur mainly with spontaneous coronary artery dissection, an atypical cause of acute myocardial infarction. In this review, we provide a comprehensive overview of the recent advances in the understanding of molecular origins of FMD. Data were obtained from genetic studies using complementary methodological approaches applied to familial, syndromic, and sporadic forms of this intriguing arteriopathy. Rare variation analyses point toward mechanisms related to impaired prostacyclin signaling and defaults in fibrillar collagens. The study of common variation, mainly through a recent genome-wide association study, describes a shared genetic link with blood pressure, in addition to point at potential risk genes involved in actin cytoskeleton and intracellular calcium homeostasis supporting impaired vascular contraction as a key mechanism. We conclude this review with future strategies and approaches needed to fully understand the genetic and molecular mechanisms related to FMD., (© 2022 The Author(s).)

Fibromuscular dysplasia (FMD) is a rare disease that affects small and medium-sized arteries. Clinical manifestations of FMD depend on its localization. In many cases, FMD of renal arteries (RA) is associated with arterial hypertension. Young age, particularly of female patients, suspected RA dissection or kidney infarction, absence of atherosclerosis or presence of FMD in other arteries of such patients evidence for RA FMD. In invasive treatment of hemodynamically significant stenoses, transluminal balloon angioplasty (TBA) of renal arteries is preferrable. Taking into account initial alterations of the vascular wall and unevenness of the lumen of the affected blood vessel, stent implantation is associated with an increased risk of complications and is recommended only if ballooning complications develop. An open reconstructive surgery is indicated in complicated narrowing anatomy, a high risk of the endovascular treatment, or after failure of the endovascular intervention. This article presents a clinical case of a young female patient with RA FMD and renovascular arterial hypertension who successfully underwent renal TBA with a drug-coated balloon.

Background: Fibromuscular dysplasia (FMD), a nonatherosclerotic arterial disease, can cause pain and vascular complications. The aim of this study was to examine the impact of FMD symptoms and complications on quality of life, depression, anxiety, and self-rated health., Design: This was a cross-sectional, correlational study., Methods: Participants were adults with a diagnosis of FMD. Quality of life (36-Item Short Form Health Survey), anxiety and depression (Patient-Reported Outcomes Measurement Information System [PROMIS®]), self-rated health question, and symptom/complication questionnaires were mailed to patients with FMD. Scores were compared with symptoms and complications. Multivariable linear models were fit for symptoms and survey scores. Ordinal regression was used for self-rated health. Backwards selection was run for each model. Alpha of 0.05 and 95% confidence intervals were used., Results: Of the 162 (275 total; 47.8%) patients who returned surveys (156 female), 130 had carotid or vertebral artery involvement (80.2%). Migraine (p < .001), neck pain (p = .036), and flank pain (p = .025) were associated with decrease in Mental Component scores. Migraine (p = .002) and neck pain (p = .023) were associated with lower Physical Component scores. Patients reporting abdominal pain compared with those without had 4.88 points higher depression. Abdominal pain (p = .031) and pulsatile tinnitus (p = .011) were associated with greater anxiety. Migraine was associated with (p = .002) lower self-rated health. Participants with history of stroke/transient ischemic attack had 2.42 (1.08, 5.46; p = .033) times the odds of poor self-rated health compared with those without stroke/transient ischemic attack., Conclusions: Among patients with FMD, presence of pain and history of vascular complications were related to lower quality of life and self-rated health., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Purpose: To report visual, clinical and radiological outcomes of three patients with fibromuscular dysplasia (FMD) that presented different ocular ischemic events, supported by different multimodal imaging., Methods: A retrospective study including patients who attended a tertiary referral hospital from July 2016 to June 2019 referring acute visual loss and later diagnosed of FMD. Ophthalmological examination included best corrected visual acuity (BCVA), biomicroscopy, fundoscopy, fluorescein angiography (FA), and macular and retinal nerve fiber layer spectral domain optic coherence tomography (SD-OCT). Patients were admitted by the Neurology service, completing the study with blood and cerebrospinal fluid (CSF) test, serology and cultures, cerebral magnetic resonance angiography (angioMRI), and arteriography., Results: Three patients were included; one male and second females. All referred unilateral acute visual loss, with BCVA of counting fingers or hand-motion. Relative afferent pupilar defect was present in all patients. Two patients associated neurological focal signs and one had chronic hypertension. Fundoscopy revealed hemorrhages and exudates in all patients, and the typical sign of "string-of-beads" in one. FA showed dye filling delay and macular and peripheral hypofluorescence. SD-OCT revealed acute and chronic retinal ischemic signs. Blood and CSF tests, serologies and cultures resulted negative. All presented cerebral vascular involvement, objectified in the cerebral angioMRI or arteriography., Conclusions: FMD should be considered in cases with unilateral sudden visual loss associated to neurological focal deficits in young patients. The typical "string-of-beads" image is rare in small arteries such as the retinal vasculature. When suspected, a complete ophthalmological examination and cerebral vascular imaging is essential to confirm the diagnosis.

Objective: The indication of percutaneous renal transluminal angioplasty (PTRA) in fibromuscular dysplasia (FMD) is mainly based on renal artery stenosis (RAS) due to atherosclerosis criteria, which are not specific to FMD. Consequently, the selection of patients who could benefit from this treatment and its effectiveness remain uncertain. The aims of this study were to: (1) report the effects of PTRA guided by trans-stenotic pressure measurements on hypertension 7 months after treatment; (2) assess the impact of pressure measurement to guide treatment efficacy in comparison to visual angiographic parameters; and (3) evaluate the reproducibility and accuracy of the stenosis measurement using a 4F catheter in comparison to a pressure guidewire., Methods: This prospective multi-centric study analyzed 24 patients with hypertension with RAS due to FMD that required PTRA. Clinical, duplex ultrasound, and angiographic indices were collected, and patients were followed up for 7 months (±1 month). Angiographic indices were measured twice both by a pressure guidewire and a 4F catheter. Assessment of procedural and clinical success of angioplasty was performed for all patients., Results: Twenty-three patients (96%) had procedural success (considered as a post-PTRA translesional systolic gradient ≤10 mmHg or reduced by at least 80%) with a significant decrease in the systolic gradient after angioplasty (26.50 mmHg; [interquartile range, 16.75-38.75] vs 0.00 [interquartile range, 0.00-2.00]; P < .01). Three patients (12%) had complications, including two renal artery dissections and one partial renal infarction. Twenty-one patients (88%) were clinical responders to angioplasty at follow-up. Visual stenosis assessment showed a poor correlation with systolic gradient measurement before and after PTRA (R from -0.05 to 0.41; P = 0.06-0.82). High correlations were found between pressure measurements made by a 4F catheter and guidewire (R from 0.64 to 0.89; P ≤ .003)., Conclusions: In patients selected by clinical indicators and duplex ultrasound, reaching a translesional systolic gradient ≤10 mmHg or reduced by at least 80% after angioplasty, promotes a high success rate for PTRA in hypertension due to FMD RAS., (Copyright © 2021 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

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. It is probable that the pathogenesis of FMD is linked to a combination of genetic and environmental factors. Extensive studies have correlated the arterial lesions of FMD to histopathological findings of arterial fibrosis, cellular hyperplasia, and distortion of the abnormal architecture of the arterial wall. More recently, the vascular phenotype of lesions associated with FMD has been expanded to include arterial aneurysms, dissections, and tortuosity. However, in the absence of a string-of-beads or focal stenosis, these lesions do not suffice to establish the diagnosis. While FMD most commonly involves renal and cerebrovascular arteries, involvement of most arteries throughout the body has been reported. Increasing evidence highlights that FMD is a systemic arterial disease and that subclinical alterations can be found in non-affected arterial segments. Recent significant progress in FMD-related research has led to improve our understanding of the disease's clinical manifestations, natural history, epidemiology, and genetics. Ongoing work continues to focus on FMD genetics and proteomics, physiological effects of FMD on cardiovascular structure and function, and novel imaging modalities and blood-based biomarkers that can be used to identify subclinical FMD. It is also hoped that the next decade will bring the development of multi-centred and potentially international clinical trials to provide comparative effectiveness data to inform the optimal management of patients with FMD., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2021. For permissions, please email: journals.permissions@oup.com.)

The objective of the study is to consider the problem of diagnostics of a rare vasculopathy, fibromuscular dysplasia of coronary arteries, by the case study of a 19-year-old serviceman, an athlete with sudden death occurred during slight physical exertion. After repeated histological examination as part of the forensic medical examination, the diagnosis was made: «multifocal fibromuscular dysplasia of the coronary arteries and ascending aortic arch, complicated by acute left ventricular failure.» This disease often manifests with the acute coronary syndrome in people of young age. Therefore, special attention was given to the macroscopic and histological features of fibromuscular dysplasia of arteries.

Objective: Renal artery revascularization has been performed to improve blood pressure control and to cure hypertension in patients with renal artery fibromuscular dysplasia (RAFMD). We herein conducted a systematic review and meta-analysis of studies assessing outcomes associated with the treatment of hypertensive RAFMD patients via endovascular angioplasty in order to offer an up-to-date overview of the relative costs and benefits of this approach to revascularization in RAFMD patients., Methods: We systematically searched the PubMed and Embase databases and the Cochrane Central Register for Controlled Trials to identify relevant studies published as of January 15, 2020. Key outcomes of interest in these studies included technical success, the incidence of perioperative complications, cure rates, and overall improvement rates., Results: In total, we identified 36 relevant studies of 1916 total repairs conducted in 1191 patients. Of these included studies, 33 were retrospective, while 3 were prospective. The overall technical success rate across these studies was 94.3%. Rates of total, major, and minor complications in these pooled studies were 12.9%, 4.6%, and 7.4%, respectively. Pooled rates of cured hypertension and improved hypertension following angioplasty, defined according to study-specific criteria, were 37.0% [95% CI: 27.0%-47.0%] and 80.0% [95% CI: 75.0% to 84.0%], respectively, although these rates varied highly among studies. Cure rates for studies used current clinical definitions for substantial variations across studies. Cure rates in studies using current definitions of cured hypertension (blood pressure <140/90 mm Hg without treatment) were just 18.1% following angioplasty. Cure rates fell markedly with increasing mean patient age (OR associated with an increase in mean age of 10 years: -0.24 [95% CI: -0.44 to -0.04, P = 0.019] and with mean known duration of hypertension (OR associated with an increase in mean hypertension duration of 5 years: -0.09 [95% CI: -0.12 to -0.05, P = 0.001])., Conclusions: These findings suggest that endovascular treatment yielded moderate benefits to RAFMD patients, with substantial variation across studies. The blood pressure outcome was strongly influenced by patient age., (Copyright © 2021 Elsevier Inc. All rights reserved.)

A 16-year-old patient presented with abdominal pain and sustained hypertension. Thorough evaluation including renography with and without captopril and renal vein renin sampling were normal. Duplex ultrasound, however, raised suspicion of a renal artery stenosis. This was confirmed by computed tomography angiography which showed a severe branch artery stenosis with post-stenotic dilatation consistent with focal fibromuscular dysplasia (FMD). As the hypertension was resistant to 3 classes of antihypertensive treatment, percutaneous transluminal renal angioplasty (PTRA) was offered. The procedure had immediate effect on the blood pressure. Without medication the patient remains normotensive 4 years after and the abdominal pain has only sporadically returned. The presented case illustrates the challenging process of diagnosing FMD-related renal branch artery stenosis as well as the potential benefits of PTRA in this patient group.

Background: Fibromuscular dysplasia (FMD) is widely recognized as an important predisposing condition for spontaneous coronary artery dissection (SCAD). However, it remains unclear in SCAD patients with coexistent extracoronary FMD whether SCAD can be attributed to coronary FMD., Methods: We retrospectively analyzed consecutive patients enrolled in our Vancouver SCAD registries between September 2009 and October 2019 who were screened for extracoronary FMD. We reviewed coronary angiograms for manifestations of coronary FMD that were previously described (ie, irregular stenosis, smooth stenosis, dilatation/ectasia, and severe tortuosity). Outcome of interest was major adverse cardiovascular event (MACE)., Results: We included 346 SCAD patients, of these, 250 (72.3%) had extracoronary FMD. Patients with FMD were older (54.6 ± 9.5 vs 51.7 ± 9.8 years) and more likely to have prior history of myocardial infarction (7.2% vs 1.0%, P = 0.047) and stroke (4.4% vs 0%, P = 0.081) compared with non-FMD patients. On coronary angiography, severe tortuosity was more prevalent in patients with extracoronary FMD (58.4% vs 36.5%, P < 0.001). Rates of irregular stenosis, smooth stenosis, and dilatation/ectasia were numerically higher in patients with extracoronary FMD, but differences were not significantly different. The rate of MACE at median follow-up of 807 (interquartile range, 392-1096) days was not different between groups (19.6% vs 15.6%; non-FMD as a reference: hazard ratio 1.44; 95% confidence interval, 0.76-2.71, P = 0.261)., Conclusion: SCAD patients with extracoronary FMD were more likely to have coronary FMD manifestations on angiogram, especially severely tortuous vessels, compared with those without extracoronary FMD, with similar clinical outcomes. This may suggest that SCAD can occur at sites of pre-existent subclinical coronary FMD., (Copyright © 2021. Published by Elsevier Inc.)

[Figure: see text].

Background Cervical artery dissection (CeAD) is a frequent manifestation of fibromuscular dysplasia (FMD). However, risk factors for CeAD are unknown. We investigated factors associated with CeAD in the ARCADIA (Assessment of Renal and Cervical Artery Dysplasia) registry. Methods and Results The ARCADIA registry includes women or men aged ≥18 years, with a diagnosis of renal, cervical, or intracranial artery FMD, who were prospectively recruited at 16 university hospitals in France and Belgium. Diagnosis of acute or past CeAD at inclusion was established on imaging according to standard diagnostic criteria. Associations between potential determinants and CeAD were assessed by logistic regression analyses. Among 469 patients (75 men) with FMD, 65 (13.9%) had CeAD. Patients with CeAD were younger, more likely to be men, have a history of migraine, and less likely to have a history of hypertension than patients without CeAD. In the multivariable analysis, male sex (odds ratio [OR], 2.66; 95% CI, 1.34-5.25), history of migraine (OR, 1.90; 95% CI, 1.06-3.39), age ≥50 years (OR, 0.41; 95% CI, 0.23-0.73), history of hypertension (OR, 0.35; 95% CI, 0.20-0.64), and involvement of ≥3 vascular beds (OR, 2.49; 95% CI, 1.15-5.40) were significantly associated with CeAD. To validate the association between CeAD and sex, we performed a systematic review. We collected additional data on sex from 2 published studies and unpublished data from the US Registry for Fibromuscular Dysplasia and the European/International FMD Registry. In the pooled analysis (289 CeAD, 1933 patients), male sex was significantly associated with CeAD (OR, 2.04; 95% CI, 1.41-2.95; I 2 =0%). Conclusions In patients with FMD, male sex and multisite involvement are associated with CeAD, in addition to other previously known risk factors. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT02884141.

Fibromuscular dysplasia (FMD) is predominantly diagnosed in women and is a congenital malformation damaging the arterial cell walls of numerous arteries, most prominently impacting the renal arteries. Although previously believed to be a disease of young women, older patients have been shown to make up a large percentage of this patient population as well. FMD is underdiagnosed, and the misdiagnosis of this disease has life-threatening consequences. Here, we present the case of a 24-year-old woman with hypertension who did not receive adequate workup until her symptoms were unrelenting. Her hypertension was presumed to be a result of her generalised anxiety disorder. However, once she began to experience vision changes and significant headaches, further workup ensued. This case exemplifies the importance of performing a thorough evaluation of all patients that present with hypertension of unknown origin, especially young women. To decrease the risk of permanent consequences such as strokes, renal failure and even death, the correct diagnosis of FMD is vital., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Aims: Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mechanisms implicated in FMD and SCAD., Methods and Results: We analysed 29 exomes that included familial and sporadic FMD. We identified one rare loss-of-function variant (LoF) (frequencygnomAD = 0.000075) shared by two FMD sisters in the prostaglandin I2 receptor gene (PTGIR), a key player in vascular remodelling. Follow-up was conducted by targeted or Sanger sequencing (1071 FMD and 363 SCAD patients) or lookups in exome (264 FMD) or genome sequences (480 SCAD), all independent and unrelated. It revealed four additional LoF allele carriers, in addition to several rare missense variants, among FMD patients, and two LoF allele carriers among SCAD patients, including one carrying a rare splicing mutation (c.768 + 1C>G). We used burden test to test for enrichment in patients compared to gnomAD controls, which detected a putative enrichment in FMD (PTRAPD = 8 × 10-4), but not a significant enrichment (PTRAPD = 0.12) in SCAD. The biological effects of variants on human prostaclycin receptor (hIP) signalling and protein expression were characterized using transient overexpression in human cells. We confirmed the LoFs (Q163X and P17RfsX6) and one missense (L67P), identified in one FMD and one SCAD patient, to severely impair hIP function in vitro., Conclusions: Our study shows that rare genetic mutations in PTGIR are enriched among FMD patients and found in SCAD patients, suggesting a role for prostacyclin signalling in non-atherosclerotic stenosis and dissection., (© The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Fibromuscular dysplasia is a nonatherosclerotic, under-recognized disorder primarily seen in middle-aged women. It can lead to several complications, such as hypertension, headaches, dissections, aneurysms, myocardial infarctions, and cerebrovascular accidents, to name a few. This article provides a comprehensive review of current literature on epidemiology, etiology, diagnosis, treatment, and long-term surveillance and fibromuscular dysplasia management. In addition, it renders the role of education and prevention for patients living with this condition and family screening. Lastly, it emphasizes the importance of a comprehensive multidisciplinary care model and patient input, given the complexity of this disease and its systemic presence and protean manifestations., (Copyright © 2021 Elsevier Inc. All rights reserved.)

The burden of cardiovascular disease in women is being increasingly appreciated. Nevertheless, both clinicians and the general public are largely unaware that cardiovascular disease is the leading cause of death worldwide in women in all countries and that outcomes after a heart attack are worse for women than men. Of note, certain types of cardiovascular disease have a predilection for women, including spontaneous coronary artery dissection (SCAD) and fibromuscular dysplasia (FMD). Although uncommon, SCAD is being increasingly recognised as the cause of an acute coronary syndrome (ACS) and can recur. It is a potentially fatal, under-diagnosed condition that affects relatively young women, who often have few traditional risk factors, and is the commonest cause of a myocardial infarction associated with pregnancy. In contrast, FMD often remains silent but when manifested can also cause major sequelae, including renal infarction, stroke, cervical artery dissection and gut infarction. Here we provide an update on the diagnosis, aetiology and management of these important disorders that overwhelmingly affect women., (Copyright © 2020 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.)

Objective: Fibromuscular Dysplasia (FMD) is a rare non-atherosclerotic non-inflammatory vascular disease associated with arterial aneurysms and dissections. The epidemiology of FMD is not well understood. We sought to characterize the epidemiology of FMD utilizing a large aggregated electronic medical record database., Methods: We used a commercial database (Explorys, IBM Watson), which aggregates data from electronic health records from 26 major integrated healthcare systems in the United States. Fibromuscular dysplasia cases were identified using a unique systemized nomenclature of medical terminology (SNOMED CT) term. We calculated the overall and age-, race-, and sex-based prevalence of FMD, and evaluated sex and race-specific differences in manifestations., Results: A total of 40,566,670 individuals were active in the database from January 2015 to January 2020. Of these, 4860 had a diagnosis of FMD with an overall prevalence of 12.0 cases per 100,000 individuals. The majority of patients with FMD were female (n=4130, 85.0%), Caucasian (n=3960, 80.5%) and adults aged 18 to 65 years (n=2610, 53.7%). FMD was more common in women (prevalence 18.4 per 100,000) than men (4.0 per 100,000) and among Caucasians (15.8 per 100,000) than African Americans (11.2 per 100,000). Men and African Americans with FMD were more likely to have traditional atherosclerotic risk factors (hypertension, diabetes mellitus type 2, smoking, obesity, hyperlipidemia, chronic kidney disease), and vascular manifestations (stroke, renal infarction, claudication), compared with women and Caucasians. Men with FMD were more likely to have dissection of aorta and renal artery as well as aneurysm of vertebral artery, coronary artery, aorta and iliac artery. African-Americans were more likely to have ruptured aortic aneurysms than Caucasians., Conclusions: The overall prevalence of FMD in this large aggregated electronic medical record study is estimated at 12.0 per 100,000 persons. FMD is more common in women and Caucasians, with variable characteristics and manifestations., Competing Interests: Declaration of Competing Interest There are no potential conflicts (financial, professional, or personal) to disclose by the other authors (Mariam Nadeem Rana, MD, Sadeer Al-Kindi, MD)., (Copyright © 2020 Elsevier Inc. All rights reserved.)

The fatal rupture of a saccular aneurysm at the junction between the left anterior cerebral artery and anterior communicating artery affected by fibromuscular dysplasia (FMD) is a rare condition. Here is reported the case of a subject involved in a road traffic accident a few minutes before the death, which opened the debate on the real cause of death in a forensic setting. By autopsy, the examination of the brain revealed subarachnoid haemorrhage with flooding of the ventricles due to the breached saccular aneurysm of the junction between the left anterior cerebral artery and anterior communicating artery, in FMD mainly affecting the circle of Willis arteries. A spontaneous aneurysmal rupture was excluded on the basis of probabilistic analysis, in the presence of alternative hypotheses that could explain the facts. The passenger's delayed loss of consciousness may be explained as much by a hypertension-linked rupture of the aneurysm triggered by the emotional stress experienced, as by the traumatic shaking/impact of the aneurysm against the bony skull structures, in a subject predisposed to aneurysm frailty due to FMD. Overall, the concausal role of both the road traffic accident, typified by high kinetic energy, and the presence of a pre-existing aneurysmatic weakness due to FMD is fully recognized. The identification of anatomical variants, jointly with uncommon diseases at the examination of the brain base arteries in any case of isolated basal subarachnoid haemorrhage, may avoid wrong legal consequences even when the cause of death seems to be obviously of simple traumatic origin., (Copyright © 2020 Elsevier B.V. All rights reserved.)

A 41-year-old man with end-stage renal disease received a deceased donor kidney transplant without complication. Maintenance immunosuppression consisted of tacrolimus, mycophenolate and prednisone. Two months after transplantation, his creatinine did not improve beyond 2-2.3 mg/dL, which prompted allograft biopsy. His biopsy showed tubular epithelial injury without rejection, and given concern for possible calcineurin-inhibitor toxicity, his tacrolimus was changed to sirolimus. Renal function improved, but 1 month later he presented to the hospital with seizure activity, severe hypertension, acute kidney injury and MRI findings suggestive of posterior reversible encephalopathy syndrome. Blood pressure was difficult to control, which had not been the case in the immediate posttransplant period, and addition of lisinopril worsened his renal function. Transplant renal artery stenosis was suspected, and allograft ultrasound with doppler confirmed our suspicion. The patient underwent an angiogram, showing 60% stenosis of the mid-distal transplanted renal artery. Interventional radiology successfully stented this lesion, with subsequent improvement in allograft function and blood pressure control. He did not require further intervention in follow-up., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Background A significant proportion of patients with spontaneous coronary artery dissection (SCAD) have ongoing chronic chest pain despite healing of their dissection. We sought to determine whether coronary microvascular dysfunction contributes to post-SCAD chronic chest pain by performing coronary reactivity testing in the cardiac catheterization laboratory. Methods and Results Eighteen patients consented to coronary reactivity testing at least 3 months post-SCAD. Coronary flow reserve (CFR) and index of microcirculatory resistance were measured in the previously affected SCAD artery and 1 non-SCAD artery. CFR <2.5 was defined as diagnostic of coronary microvascular dysfunction. An abnormal index of microcirculatory resistance was defined as >25 units. Seventeen women underwent coronary reactivity testing (1 had chronic dissection and was excluded). All presented with myocardial infarction and 2 underwent coronary stenting during the initial SCAD event. Fibromuscular dysplasia was present in 70.6% upon screening renal, iliac, and cerebrovascular arteries. Twelve patients (70.6%) had CFR <2.5 and 13 (76.5%) had an index of microcirculatory resistance >25 in at least 1 artery. There was no difference in the frequency of a low CFR measurement between SCAD and non-SCAD arteries. Conclusions Among patients with chronic chest pain after an SCAD event, >70% had coronary microvascular dysfunction as indicated by abnormal CFR or index of microcirculatory resistance in at least 1 coronary artery on invasive coronary reactivity testing. Presence of coronary microvascular dysfunction in both SCAD and non-SCAD arteries suggests that underlying microvascular abnormalities from vasculopathies such as coronary fibromuscular dysplasia may be the underlying etiology.