RESUMEN
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.
Asunto(s)
Displasia Fibromuscular , Inhibidores de Agregación Plaquetaria , Humanos , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/complicaciones , Inhibidores de Agregación Plaquetaria/uso terapéutico , Angiografía por Tomografía Computarizada/métodos , Aspirina/uso terapéutico , Aspirina/administración & dosificación , Femenino , Angiografía por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Encéfalo/diagnóstico por imagen , Encéfalo/patología , AdultoRESUMEN
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.
Asunto(s)
Anomalías de los Vasos Coronarios , Predisposición Genética a la Enfermedad , Mutación , Enfermedades Vasculares , Humanos , Anomalías de los Vasos Coronarios/genética , Anomalías de los Vasos Coronarios/diagnóstico , Enfermedades Vasculares/genética , Enfermedades Vasculares/congénito , Enfermedades Vasculares/diagnóstico , Factores de Riesgo , Fenotipo , Femenino , Displasia Fibromuscular/genética , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/complicaciones , MasculinoRESUMEN
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.
Asunto(s)
Displasia Fibromuscular , Humanos , Displasia Fibromuscular/epidemiología , Displasia Fibromuscular/diagnóstico por imagen , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Niño , Factores de Riesgo , Adolescente , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/diagnóstico , Preescolar , Enfermedades Arteriales Cerebrales/diagnóstico por imagen , Enfermedades Arteriales Cerebrales/fisiopatología , Femenino , Pronóstico , Masculino , Edad de Inicio , Lactante , Valor Predictivo de las Pruebas , Terminología como Asunto , Angiografía CerebralRESUMEN
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.
Asunto(s)
Anomalías de los Vasos Coronarios , Trastornos Migrañosos , Sistema de Registros , Enfermedades Vasculares , Humanos , Femenino , Masculino , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/diagnóstico , Persona de Mediana Edad , Enfermedades Vasculares/epidemiología , Enfermedades Vasculares/congénito , Enfermedades Vasculares/diagnóstico , Anomalías de los Vasos Coronarios/epidemiología , Anomalías de los Vasos Coronarios/complicaciones , Anomalías de los Vasos Coronarios/diagnóstico , Adulto , Estudios Prospectivos , Factores de Riesgo , Evaluación de la Discapacidad , Anciano , Displasia Fibromuscular/epidemiología , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/diagnóstico por imagen , Depresión/epidemiología , Depresión/diagnósticoRESUMEN
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.
Asunto(s)
Enfermedad de Moyamoya , Ubiquitina-Proteína Ligasas , Enfermedad de Moyamoya/genética , Enfermedad de Moyamoya/patología , Humanos , Ubiquitina-Proteína Ligasas/genética , Adenosina Trifosfatasas/genética , Mutación , Displasia Fibromuscular/genética , Displasia Fibromuscular/patología , Displasia Fibromuscular/complicacionesRESUMEN
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.
Asunto(s)
Angiografía Coronaria , Anomalías de los Vasos Coronarios , Displasia Fibromuscular , Enfermedades Vasculares , Humanos , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Masculino , Anomalías de los Vasos Coronarios/diagnóstico , Anomalías de los Vasos Coronarios/complicaciones , Enfermedades Vasculares/congénito , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/etiología , Vasos Coronarios/diagnóstico por imagen , Electrocardiografía , Persona de Mediana Edad , Infarto del Miocardio con Elevación del ST/etiología , Infarto del Miocardio con Elevación del ST/diagnóstico , Angiografía por Tomografía ComputarizadaAsunto(s)
Angiografía Coronaria , Displasia Fibromuscular , Humanos , Displasia Fibromuscular/diagnóstico por imagen , Displasia Fibromuscular/complicaciones , Femenino , Angiografía por Tomografía Computarizada , Valor Predictivo de las Pruebas , Anomalías de los Vasos Coronarios/diagnóstico por imagen , Anomalías de los Vasos Coronarios/complicaciones , Enfermedades Vasculares/diagnóstico por imagen , Enfermedades Vasculares/etiología , Enfermedades Vasculares/cirugía , Enfermedades Vasculares/congénito , Persona de Mediana Edad , Resultado del Tratamiento , Aneurisma Coronario/diagnóstico por imagen , Aneurisma Coronario/etiología , Aneurisma Coronario/cirugíaRESUMEN
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.
Asunto(s)
Displasia Fibromuscular , Arteria Renal , Humanos , Displasia Fibromuscular/complicaciones , Arteria Renal/diagnóstico por imagen , Obstrucción de la Arteria Renal/diagnóstico por imagen , Obstrucción de la Arteria Renal/etiología , Obstrucción de la Arteria Renal/complicacionesAsunto(s)
Displasia Fibromuscular , Humanos , Displasia Fibromuscular/diagnóstico por imagen , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/terapia , Displasia Fibromuscular/etnología , Factores de Riesgo , Femenino , Disparidades en el Estado de Salud , Negro o Afroamericano , Masculino , Factores Raciales , Población BlancaRESUMEN
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.
Asunto(s)
Anomalías de los Vasos Coronarios , Vasos Coronarios , Ecocardiografía , Displasia Fibromuscular , Enfermedades Vasculares , Enfermedades Vasculares/congénito , Humanos , Femenino , Masculino , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/epidemiología , Displasia Fibromuscular/fisiopatología , Persona de Mediana Edad , Anomalías de los Vasos Coronarios/epidemiología , Anomalías de los Vasos Coronarios/complicaciones , Anomalías de los Vasos Coronarios/diagnóstico , Anomalías de los Vasos Coronarios/fisiopatología , Ecocardiografía/métodos , Estudios Prospectivos , Enfermedades Vasculares/epidemiología , Enfermedades Vasculares/fisiopatología , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/complicaciones , Vasos Coronarios/diagnóstico por imagen , Angiografía Coronaria/métodos , Adulto , Tensión Longitudinal GlobalRESUMEN
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.
Asunto(s)
Aneurisma , Displasia Fibromuscular , Arteria Subclavia , Humanos , Displasia Fibromuscular/patología , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/cirugía , Masculino , Arteria Subclavia/patología , Arteria Subclavia/cirugía , Arteria Subclavia/diagnóstico por imagen , Adulto , Aneurisma/patología , Aneurisma/cirugía , Aneurisma/diagnóstico por imagen , Resultado del Tratamiento , Implantación de Prótesis VascularRESUMEN
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.
Asunto(s)
Angioplastia de Balón , Displasia Fibromuscular , Hipertensión Renovascular , Hipertensión , Obstrucción de la Arteria Renal , Adulto Joven , Humanos , Adulto , Obstrucción de la Arteria Renal/complicaciones , Obstrucción de la Arteria Renal/cirugía , Trasplante Autólogo/efectos adversos , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/cirugía , Hipertensión/complicaciones , Hipertensión Renovascular/cirugía , Hipertensión Renovascular/complicacionesAsunto(s)
Aneurisma de la Aorta Abdominal , Displasia Fibromuscular , Humanos , Displasia Fibromuscular/diagnóstico por imagen , Displasia Fibromuscular/complicaciones , Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Aneurisma de la Aorta Abdominal/cirugía , Angiografía por Tomografía Computarizada , Aortografía , Masculino , Persona de Mediana Edad , FemeninoRESUMEN
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.
Asunto(s)
Arteria Vertebral , Insuficiencia Vertebrobasilar , Humanos , Síndrome Medular Lateral/diagnóstico , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnósticoRESUMEN
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.
Asunto(s)
Aneurisma , Displasia Fibromuscular , Femenino , Humanos , Persona de Mediana Edad , Displasia Fibromuscular/complicaciones , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/patología , Vasos Coronarios/patología , Muerte Súbita Cardíaca/etiología , Aneurisma/complicaciones , Aneurisma/patología , AutopsiaRESUMEN
ABSTRACT: When a young previously healthy person dies suddenly, occasionally, the scene is noncontributory and the autopsy and drug screen are negative. In such cases, additional studies, including genetic assessment and cardiac conduction system examination, should be performed. We performed a literature search and reviewed our own material to identify possible or definite conduction system anomalies that may cause death. We identified intrinsic conduction system disease including cystic tumor of the atrioventricular node, atrioventricular node (cystic tumor of the AV node), and fibromuscular dysplasia of the atrioventricular node artery to be likely causes of death. Extrinsic causes, in which a generalized disease affects the conduction system, include tumors, autoimmune disease, infiltrative disorders, and others, are a second category of diseases that can affect the conduction system and cause atrioventricular block and sudden death.