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Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis. The only approved treatment is the farnesyltransferase inhibitor lonafarnib, which improves vascular structure and function, extending average untreated lifespan of 14.5 years by 4.3 years (30%). With this longer lifespan, calcific aortic stenosis (AS) was identified as an emerging critical risk factor for cardiac death in older patients. Intervention to relieve critical AS has the potential for immediate improvement in healthspan and lifespan. However, HGPS patient-device size mismatch, pervasive peripheral arterial disease, skin and bone abnormalities, and lifelong failure to thrive present unique challenges to intervention. An international group of experts in HGPS, pediatric and adult cardiology, cardiac surgery, and pediatric critical care convened to identify strategies for successful treatment. Candidate procedures were evaluated by in-depth examination of 4 cases that typify HGPS clinical pathology. Modified transcatheter aortic valve replacement (TAVR) and left ventricular Apico-Aortic Conduit (AAC) placement were deemed high risk but viable options. Two cases received TAVR and 2 received AAC post-summit. Three were successful and 1 patient died perioperatively due to cardiovascular disease severity, highlighting the importance of intervention timing and comparative risk stratification. These breakthrough interventions for treating critical aortic stenosis in HGPS patients could rewrite the current clinical perspective on disease course by greatly improving late-stage quality of life and increasing lifespan. Expanding worldwide medical and surgical competency for this ultra-rare disease through expert information-sharing could have high impact on treatment success.
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The inferior vena cava (IVC) and superior vena cava are the main conduits of the systemic venous circulation into the right atrium. Developmental or procedural interruptions of vena cava might predispose to stasis and deep vein thrombosis (DVT) distal to the anomaly and may impact the subsequent rate of pulmonary embolism (PE). This study aimed to review the various etiologies of developmental or procedural vena cava interruption and their impact on venous thromboembolism. A systematic search was performed in PubMed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines per each clinical question. For management questions with no high-quality evidence and no mutual agreements between authors, Delphi methods were used. IVC agenesis is the most common form of congenital vena cava interruption, is associated with an increased risk of DVT, and should be suspected in young patients with unexpected extensive bilateral DVT. Surgical techniques for vena cava interruption (ligation, clipping, and plication) to prevent PE have been largely abandoned due to short-term procedural risks and long-term complications, although survivors of prior procedures are occasionally encountered. Vena cava filters are now the most commonly used method of procedural interruption, frequently placed in the infrarenal IVC. The most agreed-upon indication for vena cava filters is for patients with acute venous thromboembolism and coexisting contraindications to anticoagulation. Familiarity with different forms of vena cava interruption and their local and systemic adverse effects is important to minimize complications and thrombotic events.
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Tromboembolia Venosa , Humanos , Tromboembolia Venosa/etiología , Vena Cava Inferior/anomalíasRESUMEN
Blood vessel chips are bioengineered microdevices, consisting of biomaterials, human cells, and microstructures, which recapitulate essential vascular structure and physiology and allow a well-controlled microenvironment and spatial-temporal readouts. Blood vessel chips afford promising opportunities to understand molecular and cellular mechanisms underlying a range of vascular diseases. The physiological relevance is key to these blood vessel chips that rely on bioinspired strategies and bioengineering approaches to translate vascular physiology into artificial units. Here, we discuss several critical aspects of vascular physiology, including morphology, material composition, mechanical properties, flow dynamics, and mass transport, which provide essential guidelines and a valuable source of bioinspiration for the rational design of blood vessel chips. We also review state-of-art blood vessel chips that exhibit important physiological features of the vessel and reveal crucial insights into the biological processes and disease pathogenesis, including rare diseases, with notable implications for drug screening and clinical trials. We envision that the advances in biomaterials, biofabrication, and stem cells improve the physiological relevance of blood vessel chips, which, along with the close collaborations between clinicians and bioengineers, enable their widespread utility.
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Cardiopatías Congénitas , Progeria , Humanos , Progeria/genética , Estudios Longitudinales , Estudios ProspectivosRESUMEN
Sex-specific factors are implicated in pulmonary embolism (PE) presentation in young patients, as indicated by increased risk in pregnancy. Whether sex differences exist in PE presentation, comorbidities, and symptomatology in older adults, the age group in which most PEs occur, remains unknown. We identified older adults (aged ≥65 years) with PE in a large international PE registry replete with information about relevant clinical characteristics (RIETE registry, 2001-2021). To provide national data from the United States, we assessed sex differences in clinical characteristics and risk factors of Medicare beneficiaries with PE (2001-2019). The majority of older adults with PE in RIETE (19,294/33,462, 57.7%) and in the Medicare database (551,492/948,823, 58.7%) were women. Compared with men, women with PE less frequently had atherosclerotic diseases, lung disease, cancer, or unprovoked PE, but more frequently had varicose veins, depression, prolonged immobility, or history of hormonal therapy (p < 0.001 for all). Women less often presented with chest pain (37.3 vs. 40.6%) or hemoptysis (2.4 vs. 5.6%) but more often with dyspnea (84.6 vs. 80.9%) (p < 0.001 for all). Measures of clot burden, PE risk stratification, and use of imaging modalities were comparable between women and men. PE is more common in elderly women than in men. Cancer and cardiovascular disease are more common in men, whereas transient provoking factors including trauma, immobility, or hormone therapy are more common in elderly women with PE. Whether such differences correlate with disparities in treatment or differences in short- or long-term clinical outcomes warrants further investigation.
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Neoplasias , Embolia Pulmonar , Humanos , Masculino , Anciano , Femenino , Estados Unidos/epidemiología , Caracteres Sexuales , Medicare , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/epidemiología , Embolia Pulmonar/etiología , Factores de Riesgo , Neoplasias/complicacionesRESUMEN
INTRODUCTION: The Society for Vascular Surgery Threatened Limb Classification System ('WIfI') is used to predict risk of limb loss and identify peripheral artery disease in patients with foot ulcers or gangrene. We estimated the diagnostic sensitivity of multiple clinical and noninvasive arterial parameters to identify chronic limb-threatening ischemia (CLTI). METHODS: We performed a single-center review of 100 consecutive patients who underwent angiography for foot gangrene or ulcers. WIfI stages and grades were determined for each patient. Toe, ankle, and brachial pressure measurements were performed by registered vascular technologists. CLTI severity was characterized using Global Limb Anatomic Staging System (GLASS stages) and angiosomes. Medial artery calcification in the foot was quantified on foot radiographs. RESULTS: GLASS NA (not applicable), I, II, and III angiographic findings were seen in 21, 21, 23, and 35 patients, respectively. A toe-brachial index < 0.7 and minimum ipsilateral ankle-brachial index < 0.9 performed well in identifying GLASS II and III angiographic findings, with sensitivity rates 97.8% and 91.5%, respectively. The diagnostic accuracy rates of noninvasive measures peaked at 74.7% and 89.3% for identifying GLASS II/III and GLASS I+ angiographic findings, respectively. The presence of medial artery calcification significantly diminished the sensitivity of most noninvasive parameters. CONCLUSIONS: The use of alternative noninvasive arterial testing parameters improves sensitivity for detecting PAD. Abnormal noninvasive results should suggest the need for diagnostic angiography to further characterize arterial anatomy of the affected limb. Testing strategies with better accuracy are needed.
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Isquemia Crónica que Amenaza las Extremidades , Enfermedad Arterial Periférica , Humanos , Gangrena/cirugía , Isquemia/diagnóstico por imagen , Extremidad Inferior/irrigación sanguínea , Pie/irrigación sanguínea , Enfermedad Arterial Periférica/diagnóstico por imagen , Recuperación del Miembro/métodos , Estudios Retrospectivos , Resultado del Tratamiento , Factores de RiesgoRESUMEN
BACKGROUND: Immunoglobulin G4-related disease is a rare systemic inflammatory disease that can lead to vascular manifestations such as periarteritis. CASE PRESENTATION: A 41-year-old man with stress angina was referred for coronary bypass surgery due to triple vessel coronary disease. CONCLUSIONS: Operative findings revealed significant adhesions and dense peri-coronary and periaortic thickening, also involving the left internal mammary artery. The IgG4-associated disease was confirmed by aortic pathology. The stress angina subsequently improved with the initiation of treatment with prednisone and rituximab.
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Arteritis , Enfermedad de la Arteria Coronaria , Masculino , Humanos , Adulto , Inmunoglobulina G , Enfermedad de la Arteria Coronaria/complicaciones , Enfermedad de la Arteria Coronaria/cirugía , Enfermedad de la Arteria Coronaria/patología , Arteritis/complicaciones , Arteritis/patología , Corazón , Angina de PechoRESUMEN
BACKGROUND: Sex is an important factor associated with pulmonary embolism (PE) disease presentation and outcomes, which may be related to pathobiological, social, and treatment-based differences. We are seeking to illuminate sex differences in pulmonary embolism presentation, care, and outcomes using an international registry and a national US database of people 65 years and older, the age group in which the majority of these events occur. METHODS: The Sex Differences in PrEsentation, Risk Factors, Drug and Interventional Therapies, and OUtcomes of Elderly PatientS with Pulmonary Embolism (SERIOUS-PE) study has been designed to address knowledge gaps in this area. This study will use data from the Registro Informatizado Enfermedad TromboEmbolica (RIETE) registry and the US Medicare Fee-For-Service beneficiaries. RIETE is a large international registry of patients with venous thromboembolism with data collected on PE presentation, risk factors, co-morbidities, drug and interventional therapies, as well as 30-day and 1-year outcomes (including recurrent VTE, major bleeding, and mortality). Data from US Medicare Fee-For-Service beneficiaries will be used to understand the sex differences in PE hospitalizations, advanced therapies, and outcomes at 30-day and 1-year follow-up. Assessment of outcomes in both databases will be performed in unadjusted models, as well as those adjusted for demographics, co-morbidities, and treatments, to understand whether the potential sex differences in outcomes are related to differences in risk factors and co-morbidities, potential disparities in treatment, or a plausible biological difference in women versus men. Linear trends will be assessed over time. RESULTS: RIETE data from March 2001 through March 2021 include 33,462 elderly patients with PE, of whom 19,294 (57.7%) were women and 14,168 (42.3%) were men. In the Medicare Fee-For-Service database, between January 2001 and December 31, 2019, 1,030,247 patients were hospitalized with a principal discharge diagnosis of PE, of whom 599,816 (58.2%) were women and 430,431 (41.8%) were men. CONCLUSIONS: Findings from the SERIOUS-PE study will help address important knowledge gaps related to sex differences in presentation and risk factors, treatment patterns, and outcomes of older adults with PE. The results may guide changes in prognostic prediction rules based on sex-specific findings, identify sex-based disparities in care delivery that should be addressed by quality improvement, or uncover potential differences in response to available therapies that warrant testing in dedicated randomized trials.
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Embolia Pulmonar , Tromboembolia Venosa , Anciano , Femenino , Humanos , Masculino , Medicare , Preparaciones Farmacéuticas , Embolia Pulmonar/diagnóstico , Sistema de Registros , Factores de Riesgo , Caracteres Sexuales , Estados Unidos , Tromboembolia Venosa/etiologíaRESUMEN
A young woman with mandibuloacral dysplasia, a syndrome on the progeria spectrum with accelerated vascular calcification and calcific valve stenosis, presented with symptomatic severe aortic stenosis. She underwent transcatheter aortic valve replacement with a balloon-expandable valve, and her exertional symptoms improved significantly. (Level of Difficulty: Intermediate.).
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PURPOSE: Central retinal artery occlusion (CRAO) is a form of acute ischemic stroke that causes severe visual loss and is a harbinger of further cerebrovascular and cardiovascular events. There is a paucity of scientific information on the appropriate management of CRAO, with most strategies based on observational literature and expert opinion. In this scientific statement, we critically appraise the literature on CRAO and provide a framework within which to consider acute treatment and secondary prevention. METHODS: We performed a literature review of randomized controlled clinical trials, prospective and retrospective cohort studies, case-control studies, case reports, clinical guidelines, review articles, basic science articles, and editorials concerning the management of CRAO. We assembled a panel comprising experts in the fields of vascular neurology, neuro-ophthalmology, vitreo-retinal surgery, immunology, endovascular neurosurgery, and cardiology, and document sections were divided among the writing group members. Each member received an assignment to perform a literature review, synthesize the data, and offer considerations for practice. Multiple drafts were circulated among the group until consensus was achieved. RESULTS: Acute CRAO is a medical emergency. Systems of care should evolve to prioritize early recognition and triage of CRAO to emergency medical attention. There is considerable variability in management patterns among practitioners, institutions, and subspecialty groups. The current literature suggests that treatment with intravenous tissue plasminogen activator may be effective. Patients should undergo urgent screening and treatment of vascular risk factors. There is a need for high-quality, randomized clinical trials in this field.
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American Heart Association , Manejo de la Enfermedad , Oclusión de la Arteria Retiniana/diagnóstico por imagen , Oclusión de la Arteria Retiniana/terapia , Arteria Retiniana/diagnóstico por imagen , Servicios Médicos de Urgencia/métodos , Humanos , Procedimientos Neuroquirúrgicos/métodos , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto/métodos , Oclusión de la Arteria Retiniana/epidemiología , Estudios Retrospectivos , Prevención Secundaria/métodos , Activador de Tejido Plasminógeno/administración & dosificación , Triaje/métodos , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVE: Coronavirus disease 2019 (COVID-19) is associated with abnormal inflammatory and coagulation markers, potentially mediating thrombotic events. Our objective was to investigate the incidence, time course, laboratory features, and in-hospital outcomes of COVID-19 patients with suspected venous thromboembolism (VTE). METHODS: A retrospective observational cohort study was conducted of patients hospitalized with COVID-19 who had undergone ultrasound imaging for suspected VTE from March 13 to May 18, 2020. The medical records of the included patients were reviewed for D-dimer, fibrinogen, prothrombin time, partial thromboplastin time, platelet count, C-reactive protein (CRP), and high-sensitivity troponin T at admission and at up to seven time points before and after ultrasound examination. The clinical outcomes included superficial venous thrombosis, deep vein thrombosis, pulmonary embolism, intubation, and death. Mixed effects logistic, linear, and Cox proportional hazards methods were used to evaluate the relationships between the laboratory markers and VTE and other in-hospital outcomes. RESULTS: Of 138 patients who had undergone imaging studies, 44 (31.9%) had evidence of VTE. On univariable analysis, an elevated admission CRP (odds ratio [OR], 1.05; 95% confidence interval [CI], 1.01-1.09; P = .02; per 10-U increase in CRP), platelet count (OR, 1.48; 95% CI, 1.04-2.12; P = .03; per 1000-U increase in platelet count), and male sex (OR, 2.64; 95% CI, 1.19-5.84; P = .02), were associated with VTE. However only male sex remained significant on multivariable analysis (OR, 2.37; 95% CI, 1.01-5.56; P = .048). The independent predictors of death included older age (hazard ratio [HR], 1.04; 95% CI, 1.00-1.07; P = .04), active malignancy (HR, 4.39; 95% CI, 1.39-13.91; P = .01), elevated admission D-dimer (HR, 1.016; 95% CI, 1.003-1.029; P = .02), and evidence of disseminated intravascular coagulation (HR, 4.81; 95% CI, 1.76-13.10; P = .002). CONCLUSIONS: Male sex, elevated CRP, and elevated platelet count at admission were associated with VTE on univariable analysis. However, only male sex remained significant on multivariable analysis. Older age, active malignancy, disseminated intravascular coagulation, and elevated D-dimer at admission were independently associated with death for patients hospitalized with COVID-19.
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COVID-19/complicaciones , Tromboembolia Venosa/etiología , Trombosis de la Vena/etiología , Adulto , Anciano , Biomarcadores/sangre , Proteína C-Reactiva/metabolismo , COVID-19/terapia , Femenino , Humanos , Inflamación/diagnóstico , Inflamación/etiología , Tiempo de Internación , Masculino , Persona de Mediana Edad , Recuento de Plaquetas , Embolia Pulmonar/etiología , Respiración Artificial , Estudios Retrospectivos , Factores de Riesgo , SARS-CoV-2 , Factores Sexuales , Resultado del Tratamiento , Tromboembolia Venosa/diagnóstico , Trombosis de la Vena/diagnósticoRESUMEN
(1) describe imaging features of CIA, (2) compare dilation rate and wall thickening of aortic aneurysms in patients with CIA versus those with giant cell arteritis/aortitis (GCA), (3) present clinical outcomes of CIA patients. Retrospective search of electronic records from 2004 to 2018 yielded 71 patients, 52 of whom were female, with a mean age of 67.5 ± 9.0 years old, with a new clinical diagnosis of cranial or extracranial GCA (GCA group), and giant cell aortitis revealed by the aortic biopsy (CIA group). Comparisons between groups were conducted using the Wilcoxon rank-sum and Fisher's exact tests. Survival from the date of initial diagnosis to the end of data collection was compared between the two groups through a log-rank test. CIA patients (n = 23; 32%) presented with cardiovascular symptoms, and none had systemic inflammatory symptoms. Inflammatory markers were significantly higher among GCA patients than among CIA patients (p < 0.0001). The CIA group demonstrated thoracic aortic aneurysms without wall thickening. None of the GCA patients (n = 48; 68%) had aneurysmal dilation in the aorta at the time of diagnosis. None of the four CIA patients had FDG uptake in the aorta, while nine out of 13 GCA patients had FDG uptake in the vessels. There was no statistically significant difference in the survival between the two groups (p = 0.12). CIA patients presented with cardiovascular symptoms and was characterized by aneurysm of the aorta without the involvement of the infrarenal aortic segment. The role of FDG-PET/CT in CIA is less certain, though none of the patients in this cohort had FDG uptake in the vessels.
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Aneurisma de la Aorta/diagnóstico por imagen , Aortitis/diagnóstico por imagen , Aortografía , Arteritis de Células Gigantes/diagnóstico por imagen , Corticoesteroides/uso terapéutico , Anciano , Antiinflamatorios/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Aneurisma de la Aorta/patología , Aortitis/tratamiento farmacológico , Aortitis/patología , Angiografía por Tomografía Computarizada , Diagnóstico Diferencial , Dilatación Patológica , Progresión de la Enfermedad , Femenino , Fluorodesoxiglucosa F18 , Arteritis de Células Gigantes/tratamiento farmacológico , Arteritis de Células Gigantes/patología , Humanos , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Tomografía de Emisión de Positrones , Valor Predictivo de las Pruebas , Pronóstico , Radiofármacos , Estudios RetrospectivosAsunto(s)
Betacoronavirus/genética , Infecciones por Coronavirus/complicaciones , Arteria Ilíaca , Pierna/irrigación sanguínea , Neumonía Viral/complicaciones , Trombosis/etiología , Anciano , Angiografía , COVID-19 , Infecciones por Coronavirus/epidemiología , ADN Viral/análisis , Femenino , Humanos , Pandemias , Neumonía Viral/epidemiología , SARS-CoV-2 , Trombectomía/métodos , Trombosis/diagnóstico , Trombosis/cirugíaRESUMEN
This expert consensus statement on the interpretation of peripheral arterial and venous spectral Doppler waveforms was jointly commissioned by the Society for Vascular Medicine (SVM) and the Society for Vascular Ultrasound (SVU). The consensus statement proposes a standardized nomenclature for arterial and venous spectral Doppler waveforms using a framework of key major descriptors and additional modifier terms. These key major descriptors and additional modifier terms are presented alongside representative Doppler waveforms, and nomenclature tables provide context by listing previous alternate terms to be replaced by the new major descriptors and modifiers. Finally, the document reviews Doppler waveform alterations with physiologic changes and disease states, provides optimization techniques for waveform acquisition and display, and provides practical guidance for incorporating the proposed nomenclature into the final interpretation report.
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Arterias/diagnóstico por imagen , Ultrasonografía Doppler/normas , Enfermedades Vasculares/diagnóstico por imagen , Venas/diagnóstico por imagen , Arterias/fisiopatología , Consenso , Humanos , Valor Predictivo de las Pruebas , Enfermedades Vasculares/fisiopatología , Venas/fisiopatologíaRESUMEN
Peripheral artery disease is a prevalent but underdiagnosed manifestation of atherosclerosis. There is insufficient awareness of its clinical manifestations, including intermittent claudication and critical limb ischemia and of its risk of adverse cardiovascular and limb outcomes. In addition, our inadequate knowledge of its pathophysiology has also limited the development of effective treatments, particularly in the presence of critical limb ischemia. This review aims to highlight essential elements of the epidemiology and pathophysiology of peripheral artery disease, bring attention to the often-atypical manifestations of occlusive arterial disease of the lower extremity, increase awareness of critical limb ischemia, briefly describe the diagnostic role of the ankle brachial index, and go over the contemporary management of peripheral artery disease. An emphasis is placed on evidence-based medical treatments to improve symptoms and quality of life and to reduce the risk of cardiovascular and limb events in these patients, including supervised exercise training, smoking cessation, antagonism of the renin-angiotensin system, lipid-lowering, antiplatelet, and antithrombotic therapies.