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Válvula Aórtica , Cateterismo Cardíaco , Implantación de Prótesis de Válvulas Cardíacas , Prótesis Valvulares Cardíacas , Humanos , Resultado del Tratamiento , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/fisiopatología , Cateterismo Cardíaco/instrumentación , Implantación de Prótesis de Válvulas Cardíacas/instrumentación , Implantación de Prótesis de Válvulas Cardíacas/efectos adversos , Succión , Reemplazo de la Válvula Aórtica Transcatéter/instrumentación , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Masculino , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/cirugía , Estenosis de la Válvula Aórtica/fisiopatología , Anciano de 80 o más Años , Ecocardiografía Transesofágica , Infecciones Relacionadas con Prótesis/cirugía , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Infecciones Relacionadas con Prótesis/microbiología , Femenino , AncianoRESUMEN
Patients with paradoxical low-flow low-gradient aortic stenosis pose a diagnostic challenge when it comes to assessing the severity of aortic stenosis (AS) noninvasively. We describe 2 patients who underwent exercise cardiac catheterization to augment their cardiac output and assess the severity of AS invasively to allow differentiation of true severe AS from pseudo-severe AS.
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Introduction: Volume overload from mitral regurgitation can result in left ventricular systolic dysfunction. To prevent this, it is essential to operate before irreversible dysfunction occurs, but the optimal timing of intervention remains unclear. Current echocardiographic guidelines are based on 2D linear measurement thresholds only. We compared volumetric CT-based and 2D echocardiographic indices of LV size and function as predictors of post-operative systolic dysfunction following mitral repair. Methods: We retrospectively identified patients with primary mitral valve regurgitation who underwent repair between 2005 and 2021. Several indices of LV size and function measured on preoperative cardiac CT were compared with 2D echocardiography in predicting post-operative LV systolic dysfunction (LVEFecho <50%). Area under the curve (AUC) was the primary metric of predictive performance. Results: A total of 243 patients were included (mean age 57 ± 12 years; 65 females). The most effective CT-based predictors of post-operative LV systolic dysfunction were ejection fraction [LVEFCT; AUC 0.84 (95% CI: 0.77-0.92)] and LV end systolic volume indexed to body surface area [LVESViCT; AUC 0.88 (0.82-0.95)]. The best echocardiographic predictors were LVEFecho [AUC 0.70 (0.58-0.82)] and LVESDecho [AUC 0.79 (0.70-0.89)]. LVEFCT was a significantly better predictor of post-operative LV systolic dysfunction than LVEFecho (p = 0.02) and LVESViCT was a significantly better predictor than LVESDecho (p = 0.03). Ejection fraction measured by CT demonstrated significantly greater reproducibility than echocardiography. Discussion: CT-based volumetric measurements may be superior to established 2D echocardiographic parameters for predicting LV systolic dysfunction following mitral valve repair. Validation with prospective study is warranted.
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Thoracic aortic aneurysm (TAA) is a commonly encountered disease that is defined as aortic dilation with an increase in diameter of at least 50% greater than the expected age- and sex-adjusted size. Thoracic aortic aneurysms are described by their size, location, morphology, and cause. Primary care clinicians and other noncardiologists are often the first point of contact for patients with TAA. This review is intended to provide them with basic information on the differential diagnosis, diagnostic evaluation, and medical and surgical management of TAAs. Management decisions depend on having as precise a diagnosis as possible. Fortunately, this can often be achieved with a stepwise diagnostic approach that incorporates imaging and targeted genetic testing. Our review includes recommendations. In this review, we discuss these issues at a basic level and include recommendations for patients considering pregnancy.
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Aneurisma de la Aorta Torácica , Humanos , Aneurisma de la Aorta Torácica/diagnóstico , Aneurisma de la Aorta Torácica/terapia , Diagnóstico Diferencial , Diagnóstico por ImagenAsunto(s)
Cardiomiopatías , Miocarditis , Sarcoidosis , Humanos , Valor Predictivo de las Pruebas , Miocardio , Fluorodesoxiglucosa F18 , Sarcoidosis/diagnóstico por imagen , Sarcoidosis/tratamiento farmacológico , Tomografía de Emisión de Positrones , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatías/tratamiento farmacológico , RadiofármacosRESUMEN
Background: Amyloidosis is defined by abnormal protein folding and subsequent deposition in tissues. Cardiac involvement is usually related to misfolded monoclonal immunoglobulin light chains or misfolded transthyretin; however, apolipoprotein A-1-associated amyloidosis is a hereditary form of amyloidosis resulting from mutations in the AAPOA1 gene that can also result in cardiac amyloidosis. Although there have been advancements in noninvasive algorithms for the diagnosis of cardiac amyloidosis, endomyocardial biopsy (EMB) may still be warranted. All individuals undergoing EMB are susceptible to complications, including tricuspid valve injury resulting in severe tricuspid valve regurgitation. Case summary: Our patient is a 70-year-old white man presented with symptoms of dyspnoea on exertion and decreased functional capacity, diagnosed previously with apolipoprotein A-I cardiac amyloidosis, confirmed by EMB. He developed progressive right-sided heart failure secondary to iatrogenic flail tricuspid leaflet related to the diagnostic EMB. He underwent a successful transcatheter tricuspid valve edge-to-edge repair with 4D intracardiac echocardiographic guidance. At the recent follow-up, the patient showed improved symptoms, with increased stamina, and transoesophageal echocardiography revealed a 65% ejection fraction and mild tricuspid regurgitation (TR). Discussion: Tricuspid valve injury is one of the complications associated with EMB, which can result in severe TR. Transcatheter tricuspid valve edge-to-edge repair can be a useful option for patients considered too high risk for surgical intervention, such as those with advanced cardiac amyloidosis.
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Surgical resection has been the treatment of choice for cardiac myxomas, but older age and comorbidities relegate many patients to observation. Pure percutaneous removal of left atrial myxomas is both intriguing and challenging. We report a successful percutaneous technique for removal of left atrial cardiac myxoma in a nonsurgical candidate. (Level of Difficulty: Advanced.).
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Transcatheter tricuspid valve interventions (TTVIs) comprise a variety of catheter-based interventional techniques for treatment of tricuspid regurgitation (TR) in patients at high surgical risk and those with failed previous surgeries. Several TTVI devices with different mechanisms of action are either currently used or in preclinical evaluation. Echocardiography is the first-line modality for evaluation of tricuspid valve disease that provides information on tricuspid valve morphology, mechanism of TR, and hemodynamics. Cardiac CT and MRI have several advantages for a comprehensive preprocedure evaluation. CT and MRI provide complementary information to that of echocardiography on the mechanism and cause of TR. MRI can quantify the severity of TR using indirect or direct techniques that involve two-dimensional or four-dimensional flow sequences. MRI and CT can also accurately quantify right ventricular volumes and function, which is crucial for timing of intervention. CT provides comprehensive three-dimensional information on the morphology of the valve, annulus, subvalvular apparatus, and adjacent structures. CT is the procedure of choice for evaluation of several device-specific measurements, including tricuspid annulus dimensions, annulus-to-right coronary artery distance, leaflet morphology, coaptation gaps, caval dimensions, and cavoatrial-to-hepatic vein distance. CT allows evaluation of the vascular access as well as optimal procedure fluoroscopic angles and catheter trajectory. Postprocedure CT and MRI are useful in detection of complications such as paravalvular leak, pseudoaneurysm, thrombus, pannus, infective endocarditis, and device migration. © RSNA, 2023 Quiz questions for this article are available in the supplemental material.
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Aneurisma Falso , Enfermedades de las Válvulas Cardíacas , Humanos , Válvula Tricúspide/diagnóstico por imagen , Válvula Tricúspide/cirugía , Imagen por Resonancia Magnética , EcocardiografíaRESUMEN
Background: Severe tricuspid regurgitation (TR) is associated with considerable morbidity/mortality in an elderly population with multiple comorbidities. There is interest in transcatheter interventions to manage severe TR. Understanding complex right heart (RH) geometry and tricuspid valve shape and size has implications for patient/device selection for transcatheter intervention. We characterized RH anatomy by computed tomography in patients with symptomatic severe TR considered for intervention. Methods: The retrospective Mayo Clinic study included 29 patients with an echocardiogram and cardiac computed tomography angiogram considered for intervention of severe TR from March 01, 2016 to December 15, 2020. Patients were divided into 2 groups: intervention (surgical or transcatheter; n = 17) and medical management alone (n = 12). Results: Mean age was 83 ± 8 (83% female), 100% had atrial fibrillation, and 62% had chronic kidney disease ≥3a. Ninety-seven percent were symptomatic, 93% had been prescribed loop diuretics, and 24% had device leads. Mean tricuspid annular plane systolic excursion was 16.8 ± 4.5 mm, effective regurgitant orifice area was 81 ± 33 mm2, and cardiac index was 2.6 ± 0.6 L/min/m2. Forty-one percent had at least moderate right ventricular (RV) dysfunction with a mean RV systolic pressure of 46 ± 16 mmHg. Patients receiving intervention had significantly larger effective regurgitant orifice area (101 ± 33 vs. 63 ± 22 mm2, p = 0.033), shorter tricuspid leaflet tenting length (6.5 ± 3.0 vs. 8.9 ± 2.7 mm, p = 0.042), and smaller annuloplasty diagnostic perimeter during diastole (120.1 ± 16.6 vs. 131.1 ± 7.4 mm, p = 0.041). Intervention patients tended to have better right ventricular function, smaller RV and inferior vena cava size, and more severe symptoms. The maximal tricuspid annulus diameter in systole and diastole was 51 ± 5 and 53 ± 7 mm, respectively. Conclusions: Severe TR patients referred for transcatheter intervention present with severe RH enlargement with a large proportion having tricuspid annulus dimensions outside the range for current devices available in clinical trials. The presented data have implications for device development/selection and procedural feasibility.
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Pericardial disease includes a variety of conditions, including inflammatory pericarditis, pericardial effusions, constrictive pericarditis, pericardial cysts, and primary and secondary pericardial neoplasms. The true incidence of this varied condition is not well established, and the causes vary greatly across the world. This review aims to describe the changing pattern of epidemiology of pericardial disease and to provide an overview of causative etiologies. Idiopathic pericarditis (assumed most often to be viral) remains the most common etiology for pericardial disease globally, with tuberculous pericarditis being most common in developing countries. Other important etiologies include fungal, autoimmune, autoinflammatory, neoplastic (both benign and malignant), immunotherapy-related, radiation therapy-induced, metabolic, postcardiac injury, postoperative, and postprocedural causes. Improved understanding of the immune pathophysiological pathways has led to identification and reclassification of some idiopathic pericarditis cases into autoinflammatory etiologies, including immunoglobulin G (IgG)4-related pericarditis, tumour necrosis factor receptor-associated periodic syndrome (TRAPS), and familial Mediterranean fever in the current era. Contemporary advances in percutaneous cardiac interventions and the recent COVID-19 pandemic have also resulted in changes in the epidemiology of pericardial diseases. Further research is needed to improve our understanding of the etiologies of pericarditis, using the assistance of contemporary advanced imaging techniques and laboratory testing. Careful consideration of the range of potential causes and local epidemiologic patterns of causality are important for the optimization of diagnostic and therapeutic approaches.
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COVID-19 , Neoplasias Cardíacas , Pericarditis Constrictiva , Pericarditis , Humanos , Pandemias , COVID-19/epidemiología , COVID-19/complicaciones , Pericarditis/epidemiología , Pericarditis/etiología , Pericarditis/diagnóstico , Pericarditis Constrictiva/diagnóstico , Pericarditis Constrictiva/epidemiología , Pericarditis Constrictiva/etiología , Neoplasias Cardíacas/complicacionesRESUMEN
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD). METHODS: Medical records from Mayo Clinic were queried for all patients with confirmed ADPKD and CHD between 1993 and 2020. CHD was categorized into left-to-right shunt, obstructive, and complex lesions. Patent foramen ovale, mitral valve prolapse, and bicuspid aortic valve anomalies were excluded. RESULTS: Twenty-five out of 1,359 (1.84%) ADPKD patients were identified to have CHD. Of these, 84% were Caucasians and 44% were males. The median (Q1-Q3) age (years) at CHD diagnosis was 12.0 (2.0-43.5). Fourteen patients (56%) had left-to-right shunt lesions, 6 (24%) had obstructive lesions and 5 (20%) complex lesions. Seventeen patients (68%) had their defects surgically corrected at a median age (Q1-Q3) of 5.5 (2.0-24.7). Among 13 patients with available genetic testing, 12 (92.3%) had PKD1 pathogenic variants, and none had PKD2. The median (Q1-Q3) age at last follow-up visit was 47.0 (32.0-62.0) and median (Q1-Q3) eGFR was 35.8 (11.4-79.0) mL/min/1.73 m2. Three patients (12%) died; all of them had left-to-right shunt lesions. DISCUSSION/CONCLUSION: We observed a higher CHD frequency in ADPKD than the general population (1.84 vs. 0.4%). While only PKD1 pathogenic variants were identified in this cohort, further studies are needed to confirm this novel finding and understand the role of polycystins in the development of the heart and vessels.
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Cardiopatías Congénitas , Riñón Poliquístico Autosómico Dominante , Adolescente , Adulto , Niño , Preescolar , Femenino , Pruebas Genéticas , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Masculino , Mutación , Riñón Poliquístico Autosómico Dominante/complicaciones , Riñón Poliquístico Autosómico Dominante/diagnóstico , Riñón Poliquístico Autosómico Dominante/genética , Canales Catiónicos TRPP/genética , Adulto JovenAsunto(s)
Angina de Pecho/etiología , Cardiomiopatías/diagnóstico por imagen , Ecocardiografía de Estrés/métodos , Prueba de Esfuerzo , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/diagnóstico por imagen , Imagen de Perfusión/métodos , Adulto , Cardiomiopatías/complicaciones , Cardiomiopatías/tratamiento farmacológico , Cardiomiopatías/fisiopatología , Diagnóstico Diferencial , Humanos , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/complicaciones , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/tratamiento farmacológico , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/fisiopatología , Inmunosupresores/uso terapéutico , Imagen por Resonancia Cinemagnética , Masculino , Valor Predictivo de las Pruebas , Resultado del TratamientoRESUMEN
Heart disease and cancer are the leading causes of death in older adults. Many first-line cancer treatments have the potential for cardiotoxicity. Age-related risk factors, pre-existing cardiac disease, and a high prevalence of comorbidities are reasons for increased cardiotoxicity in older adults. Concerns regarding cardiotoxicity may lead to frailty bias and undertreatment, resulting in suboptimal outcomes. There is an urgent need for geriatric-specific evidence and guidelines to help tailor care for this vulnerable group. A multi-disciplinary approach based on close collaboration between oncologists, cardiologists, and geriatricians, among other specialist clinicians is essential.
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Antineoplásicos/efectos adversos , Cardiomiopatías/complicaciones , Insuficiencia Cardíaca/complicaciones , Neoplasias/complicaciones , Neoplasias/terapia , Radioterapia/efectos adversos , Factores de Edad , Anciano , Biomarcadores/sangre , Cardiomiopatías/inducido químicamente , Cardiotoxicidad/complicaciones , Cardiotoxicidad/diagnóstico , Cardiotoxicidad/prevención & control , Cardiotoxicidad/terapia , Femenino , Insuficiencia Cardíaca/inducido químicamente , Humanos , Masculino , Oncología Médica , Ensayos Clínicos Controlados Aleatorios como Asunto , Factores de RiesgoRESUMEN
The goal of the present study was to narrow a region of chromosome 13 to only several genes and then apply unbiased statistical approaches to identify molecular networks and biological pathways relevant to blood-pressure salt sensitivity in Dahl salt-sensitive (SS) rats. The analysis of 13 overlapping subcongenic strains identified a 1.37 Mbp region on chromosome 13 that influenced the mean arterial blood pressure by at least 25 mmHg in SS rats fed a high-salt diet. DNA sequencing and analysis filled genomic gaps and provided identification of five genes in this region, Rfwd2, Fam5b, Astn1, Pappa2, and Tnr. A cross-platform normalization of transcriptome data sets obtained from our previously published Affymetrix GeneChip dataset and newly acquired RNA-seq data from renal outer medullary tissue provided 90 observations for each gene. Two Bayesian methods were used to analyze the data: 1) a linear model analysis to assess 243 biological pathways for their likelihood to discriminate blood pressure levels across experimental groups and 2) a Bayesian graphical modeling of pathways to discover genes with potential relationships to the candidate genes in this region. As none of these five genes are known to be involved in hypertension, this unbiased approach has provided useful clues to be experimentally explored. Of these five genes, Rfwd2, the gene most strongly expressed in the renal outer medulla, was notably associated with pathways that can affect blood pressure via renal transcellular Na(+) and K(+) electrochemical gradients and tubular Na(+) transport, mitochondrial TCA cycle and cell energetics, and circadian rhythms.
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Genoma/genética , Hipertensión/genética , Hipertensión/metabolismo , Transducción de Señal/genética , Animales , Presión Arterial/genética , Teorema de Bayes , Ritmo Circadiano/genética , Ciclo del Ácido Cítrico/genética , Perfilación de la Expresión Génica/métodos , Masculino , Mitocondrias/genética , Potasio/metabolismo , Ratas , Ratas Endogámicas Dahl , Análisis de Secuencia de ADN/métodos , Sodio/metabolismo , Cloruro de Sodio Dietético/metabolismoRESUMEN
Renin was the first blood pressure (BP) quantitative trait locus mapped by linkage analysis in the rat. Subsequent BP linkage and congenic studies capturing different portions of the renin region have returned conflicting results, suggesting that multiple interdependent BP loci may be residing in the chromosome 13 BP quantitative trait locus that includes Renin. We used SS-13(BN) congenic strains to map 2 BP loci in the Renin region (chr13: 45.2-49.0 Mb). We identified a 1.1-Mb protective Brown Norway region around Renin (chr13: 46.1-47.2 Mb) that significantly decreased BP by 32 mm Hg. The Renin protective BP locus was offset by an adjacent hypertensive locus (chr13: 47.2-49.0 Mb) that significantly increased BP by 29 mm Hg. Sequence analysis of the protective and hypertensive BP loci revealed 1433 and 2063 variants between Dahl salt-sensitive/Mcwi and Brown Norway rats, respectively. To further reduce the list of candidate variants, we regenotyped an overlapping SS-13(SR) congenic strain (S/renrr) with a previously reported BP phenotype. Sequence comparison among Dahl salt-sensitive, Dahl R, and Brown Norway reduced the number of candidate variants in the 2 BP loci by 42% for further study. Combined with previous studies, these data suggest that at least 4 BP loci reside within the 30-cM chromosome 13 BP quantitative trait locus that includes Renin.
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Presión Sanguínea/fisiología , Hipertensión/genética , Renina/genética , Alelos , Animales , Animales Congénicos , Mapeo Cromosómico , Modelos Animales de Enfermedad , Hipertensión/metabolismo , Hipertensión/fisiopatología , Sitios de Carácter Cuantitativo , Ratas , Ratas Endogámicas BN , Ratas Endogámicas Dahl , Renina/metabolismo , Análisis de SecuenciaRESUMEN
Members of the order Halobacteriales are obligate extreme halophiles that belong to the domain Archaea. The classification of the Halobacteriales currently relies on a polyphasic approach, which integrates phenotypic, genotypic and chemotaxonomic characterization. However, the most utilized genetic marker for phylogeny, the 16S rRNA gene, has multiple drawbacks for use with the Halobacteriales: the species of many genera exhibit large intragenic differences between multiple ribosomal RNA operons, the gene is too conserved to discriminate reliably at the species level and it appears to be the most frequently recombined gene between closely related species. Moreover, the Halobacteriales is a rapidly expanding group due to recent successes at cultivating novel strains from a diverse set of hypersaline environments; a fast, reliable, inexpensive, portable molecular method for discriminating species is required for their investigation. Recently, multilocus sequence analysis (MLSA) has been shown to be an effective tool for strain identification and taxonomic designation, even for those taxa that experience frequent lateral gene transfer and homologous recombination. In this study, MLSA was utilized for evolutionary and taxonomic investigation of the Halobacteriales. Efficacy of the MLSA approach was tested across a hierarchical gradient using 52 halobacterial strains, representing 33 species (including names without standing in nomenclature) and 14 genera. A subset of 21 strains from the genus Haloarcula was analysed separately to test the sensitivity and relevance of the MLSA approach among closely related strains and species. The results demonstrated that MLSA differentiated individual strains, reliably grouped strains into species and species into genera and identified potential novel species and also family-like relationships. This study demonstrates that MLSA is a rapid and informative molecular method that will probably accommodate strain analysis at any taxonomic level within the Halobacteriales.