Cerebral arteriopathies of childhood and stroke - A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD).

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.

Migraine headache in patients with spontaneous coronary artery dissection: A report of the iSCAD Registry.

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.

Spontaneous Coronary Artery Dissection in a Male Patient With Fibromuscular Dysplasia.

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.

Fibromuscular dysplasia of the renal arteries: what do we know in 2024? / Dysplasie fibromusculaire des artères rénales : que savons-nous en 2024 ?

Fibromuscular dysplasia (FMD) is a rare nonatherosclerotic, noninflammatory vascular disease affecting mostly renal and carotid arteries and is the second most frequent cause of renal artery stenosis. The symptomatology is dominated by arterial hypertension due to the frequent involvement of the renal arteries and depends on the location of the lesions. Most of the cases are middle-aged women of Caucasian origin. There are two subtypes based on angiographic aspect: multifocal FMD (80% of the cases) and focal FMD (rarer with a more balanced sex ratio). Angioplasty of the renal arteries is generally disappointing with less than 50% cure of hypertension. It appears necessary to improve our knowledge of the FMD and to optimize the selection of eligible patients for revascularization with transdisciplinary collegial therapeutic decision.

La dysplasie fibromusculaire (DFM) est une maladie rare caractérisée par des sténoses segmentaires non artérioscléreuses, non inflammatoires, des artères de moyens calibres, touchant surtout les artères rénales et les carotides. Elle constitue la seconde cause de sténoses des artères rénales. La symptomatologie dépend de la localisation des lésions et est dominée par l'hypertension artérielle (HTA) en raison de l'atteinte fréquente des artères rénales. Cette pathologie touche majoritairement les femmes caucasiennes d'âge moyen. Il en existe deux sous-types, basés sur l'aspect angiographique : la DFM multifocale (80 % des cas) et la DFM focale (plus rare, sex ratio plus équilibré). Les résultats des prises en charge interventionnelles s'avèrent globalement décevants avec moins de 50 % de guérison de l'HTA. Il est nécessaire d'améliorer nos connaissances sur la physiopathologie de la DFM et d'optimiser la sélection des patients éligibles à une revascularisation par une prise de décision thérapeutique collégiale, en réunion de concertation pluridisciplinaire.

Moyamoya Vasculopathy and Moyamoya-Related Systemic Vasculopathy: A Review With Histopathological and Genetic Viewpoints.

Systemic vasculopathy has occasionally been reported in cases of moyamoya disease (MMD). Since the pathological relationship between moyamoya vasculopathy (MMV) and moyamoya-related systemic vasculopathy (MMRSV) remains unclear, it was examined herein by a review of histopathologic studies in consideration of clinicopathological and genetic viewpoints. Although luminal stenosis was a common finding in MMV and MMRSV, histopathologic findings of vascular remodeling markedly differed. MMV showed intimal hyperplasia, marked medial atrophy, and redundant tortuosity of the internal elastic lamina, with outer diameter narrowing called negative remodeling. MMRSV showed hyperplasia, mainly in the intima and sometimes in the media, with disrupted stratification of the internal elastic lamina. Systemic vasculopathy has also been observed in patients with non-MMD carrying the RNF213 (ring finger protein 213) mutation, leading to the concept of RNF213 vasculopathy. RNF213 vasculopathy in patients with non-MMD was histopathologically similar to MMRSV. Cases of MMRSV have sometimes been diagnosed with fibromuscular dysplasia. Fibromuscular dysplasia is similar to MMD not only in the histopathologic findings of MMRSV but also from clinicopathological and genetic viewpoints. The significant histopathologic difference between MMV and MMRSV may be attributed to a difference in the original vascular wall structure and its resistance to pathological stress between the intracranial and systemic arteries. To understand the pathogeneses of MMD and MMRSV, a broader perspective that includes RNF213 vasculopathy and fibromuscular dysplasia as well as an examination of the 2- or multiple-hit theory consisting of genetic factors, vascular structural conditions, and vascular environmental factors, such as blood immune cells and hemodynamics, are needed.

Fibromuscular dysplasia of the renal arteries: what do we know in 2024? / Dysplasie fibromusculaire des artères rénales : que savons-nous en 2024 ?

Fibromuscular dysplasia (FMD) is a rare nonatherosclerotic, noninflammatory vascular disease affecting mostly renal and carotid arteries and is the second most frequent cause of renal artery stenosis. The symptomatology is dominated by arterial hypertension due to the frequent involvement of the renal arteries and depends on the location of the lesions. Most of the cases are middle-aged women of Caucasian origin. There are two subtypes based on angiographic aspect: multifocal FMD (80% of the cases) and focal FMD (rarer with a more balanced sex ratio). Angioplasty of the renal arteries is generally disappointing with less than 50% cure of hypertension. It appears necessary to improve our knowledge of the FMD and to optimize the selection of eligible patients for revascularization with transdisciplinary collegial therapeutic decision.

La dysplasie fibromusculaire (DFM) est une maladie rare caractérisée par des sténoses segmentaires non artérioscléreuses, non inflammatoires, des artères de moyens calibres, touchant surtout les artères rénales et les carotides. Elle constitue la seconde cause de sténoses des artères rénales. La symptomatologie dépend de la localisation des lésions et est dominée par l'hypertension artérielle (HTA) en raison de l'atteinte fréquente des artères rénales. Cette pathologie touche majoritairement les femmes caucasiennes d'âge moyen. Il en existe deux sous-types, basés sur l'aspect angiographique : la DFM multifocale (80 % des cas) et la DFM focale (plus rare, sex ratio plus équilibré). Les résultats des prises en charge interventionnelle s'avèrent globalement décevants avec moins de 50 % de guérison de l'HTA. Il est nécessaire d'améliorer nos connaissances sur la physiopathologie de la DFM et d'optimiser la sélection des patients éligibles à une revascularisation par une prise de décision thérapeutique collégiale, en réunion de concertation pluridisciplinaire.

Fibromuscular dysplasia of subclavian artery: A case report and mini-review.

A case of a 40-year-old male patient with a right subclavian artery aneurysm of fibromuscular dysplasia origin is reported. The patient presented with thoracic outlet-like symptoms and underwent aneurysm resection. Microscopic examination revealed intimal and medial fibroplasia. Additional cases of fibromuscular dysplasia at this rare location are reviewed, indicating a male and right-sided predominance. The most frequent clinicopathological manifestation was an aneurysm, with the histopathological pattern characterized by medial fibroplasia. Treatment modalities included the use of either graft prosthesis or end-to-end anastomosis.

Coronary Artery Tortuosity and Spontaneous Coronary Artery Dissection: Association With Echocardiography and Global Longitudinal Strain, Fibromuscular Dysplasia, and Outcomes.

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.

Renal Autotransplantation for Uncontrolled Hypertension in Nonatherosclerotic Renal Artery Stenosis-2 Case Reports and a Brief Review of the Literature.

Fibromuscular dysplasia is the most common cause of renovascular hypertension in young adults under 40 years old. It is potentially amenable to renal artery angioplasty, which frequently normalizes blood pressure. However, limited options exist if angioplasty is not technically possible, or restenosis occurs. Here, we describe 2 patients who presented with hypertension secondary to renal artery stenosis. In the first case, a young adult with hypertension secondary to renal artery stenosis (fibromuscular dysplasia), developed restenosis 11 weeks after an initially successful renal artery angioplasty. In the second case, a patient with neurofibromatosis type 1 was diagnosed with hypertension secondary to renal artery stenosis. Angioplasty was not possible due to multiple branch occlusions. Both individuals went on to have successful renal autotransplantations, which ultimately cured their hypertension. In this article, we review the background, indications, and blood pressure outcomes in relation to renal autotransplantation in nonatherosclerotic renal artery stenosis.

Intrinsic stenosing and occlusive pathologies of the vertebral artery: A narrative review.

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.

Fibromuscular dysplasia of the coronary arteries: An unusual case of sudden death and review of the literature.

Fibromuscular dysplasia of the coronary is an uncommon coronary defect with a range of pathological alterations and unpredictable clinical description that can cause sudden death. We present an autopsy case of sudden cardiac death due to a rupture of a coronary artery aneurysm in a 59-year-old woman. Postmortem autopsy revealed two huge saccular aneurysms located at the right coronary artery, one of which was ruptured leading to a fatal hemopericardium. Histopathological examination revealed coronary artery fibromuscular dysplasia with fibromyxoid dissociation of the media causing saccular aneurysms. The involvement of coronary arteries in fibromuscular dysplasia with aneurysmal features has been rarely reported in the literature and is most likely an underdiagnosed finding. Due to the little number of published studies, the etiology is not fully understood and data on pathogenesis, risk factors, manifestation, disease course, and mortality are still unclear, which is a gap that needs to be filled in order to avoid under-diagnosis of the disease. Our case report aimed to discuss the mechanisms of sudden death attributed to coronary fibromuscular dysplasia.

A Rare Case of Focal Renal Fibromuscular Dysplasia Treated With Angioplasty: A Case Report.

BACKGROUND: Fibromuscular dysplasia is an idiopathic, segmental, nonatherosclerotic, noninflammatory vascular disease that can lead to arterial stenosis, tortuosity, occlusion, aneurysms, and dissection. Fibromuscular dysplasia is a rare cause of hypertension that can easily be missed. To date, there has been no definitive treatment for fibromuscular dysplasia. CASE REPORT: In this report, we present an uncommon case of renovascular hypertension in a 21-year-old non-white female with a 3-year history of hypertension secondary to fibromuscular dysplasia involving bilateral renal arteries. Computed tomography angiography during the arterial phase revealed distal focal narrowing of the right main renal artery, distal focal narrowing of the left main renal artery, and proximal focal narrowing of the left accessory lower renal artery. Percutaneous balloon dilatation of the stenotic lesion was performed successfully up to 1 year After the procedure, the arterial blood pressure was within the normal range (110/70 to 125/75 mmHg) without medication. After 1 year of follow-up, CTA revealed re-stenosis in left main renal artery without clinical symptoms and normal blood pressure. Repeated procedure was done successfully. CONCLUSIONS: This case report highlights the difficulty in the diagnosis and treatment of focal fibromuscular dysplasia in young non-white female patients. Computerized tomographic angiography is a useful tool for identifying the cause and showing the benefit of percutaneous transluminal renal angioplasty treatment for this rare entity, as an early percutaneous angioplasty intervention may have a clinical cure for hypertension.

Differentiating between segmental arterial mediolysis and other arterial vasculopathies to establish an early diagnosis - a systematic literature review and proposal of new diagnostic criteria.

Segmental arterial mediolysis (SAM) is a rare vascular disease, characterized by acute but transient vulnerability of the wall of medium-sized arteries. The most characteristic feature of SAM is its biphasic course: an injurious phase marked by acute weakness of the arterial wall leading to acute dissection and/or hemorrhage, followed by a reparative phase in which granulation tissue and fibrosis restore the injured arterial wall. Residual stenosis, aneurysms, and/or arterial wall irregularities may remain visible on future imaging studies. Differentiating between SAM and other arterial vasculopathies is difficult due to its similarities with many other vascular diseases, such as vasculitis, fibromuscular dysplasia, inherited connective tissue disorders, and isolated visceral artery dissection. In this systematic review, we provide an overview on SAM, with an emphasis on the differential diagnosis and diagnostic work-up. We propose new diagnostic criteria to help establish a prompt diagnosis of SAM, illustrated by case examples from our multidisciplinary vascular clinic.