EACVI recommendations on cardiovascular imaging for the detection of embolic sources: endorsed by the Canadian Society of Echocardiography

Cardioaortic embolism to the brain accounts for approximately 15-30% of ischaemic strokes and is often referred to as 'cardioembolic stroke'. One-quarter of patients have more than one cardiac source of embolism and 15% have significant cerebrovascular atherosclerosis. After a careful work-up, up to 30% of ischaemic strokes remain 'cryptogenic', recently redefined as 'embolic strokes of undetermined source'. The diagnosis of cardioembolic stroke remains difficult because a potential cardiac source of embolism does not establish the stroke mechanism. The role of cardiac imaging-transthoracic echocardiography (TTE), transoesophageal echocardiography (TOE), cardiac computed tomography (CT), and magnetic resonance imaging (MRI)-in the diagnosis of potential cardiac sources of embolism, and for therapeutic guidance, is reviewed in these recommendations. Contrast TTE/TOE is highly accurate for detecting left atrial appendage thrombosis in patients with atrial fibrillation, valvular and prosthesis vegetations and thrombosis, aortic arch atheroma, patent foramen ovale, atrial septal defect, and intracardiac tumours. Both CT and MRI are highly accurate for detecting cavity thrombosis, intracardiac tumours, and valvular prosthesis thrombosis. Thus, CT and cardiac magnetic resonance should be considered in addition to TTE and TOE in the detection of a cardiac source of embolism. We propose a diagnostic algorithm where vascular imaging and contrast TTE/TOE are considered the first-line tool in the search for a cardiac source of embolism. CT and MRI are considered as alternative and complementary tools, and their indications are described on a case-by-case approach.Cardiolog

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

This International Consensus Classification and Nomenclature for the congenital bicuspid aortic valve condition recognizes 3 types of bicuspid valves: 1. The fused type (right-left cusp fusion, right-non-coronary cusp fusion and left-non-coronary cusp fusion phenotypes); 2. The 2-sinus type (latero-lateral and antero-posterior phenotypes); and 3. The partial-fusion (forme fruste) type. The presence of raphe and the symmetry of the fused type phenotypes are critical aspects to describe. The International Consensus also recognizes 3 types of bicuspid valve-associated aortopathy: 1. The ascending phenotype; 2. The root phenotype; and 3. Extended phenotypes.Cardiolog

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Tratamento fungicida e peliculização de sementes de soja submetidas ao armazenamento Fungicide treatment and film coating of soybean seeds submitted to storage

O tratamento de sementes de soja com fungicidas vem sendo utilizado como importante ferramenta no controle de patógenos. Nesse trabalho, objetivou-se estudar o desempenho de sementes de soja tratadas com fungicidas e peliculizadas, antes e após o armazenamento. Foram utilizados cinco lotes de sementes, cultivar Monsoy 6101, submetidos aos tratamentos: thiabendazole+thiram sem polímero, carbendazin+thiram sem polímero, sem fungicida (testemunha) sem polímero, além desses tratamentos realizados via peliculização (com polímero). A qualidade fisiológica e sanitária das sementes foi avaliada inicialmente e após seis meses de armazenamento em condições ambientais, pelas seguintes determinações: teor de água, teste de germinação, emergência em bandeja, teste de frio e de sanidade. Conclui-se que a peliculização, em associação com fungicidas, não afeta a qualidade fisiológica das sementes de soja e o tratamento de lotes de sementes de soja com os fungicidas thiabendazole+thiram e carbendazin+thiram melhora seu desempenho e qualidade sanitária.<br>The treatment of soybean seeds by fungicides has been used as an important tool in pathogen control. The objective of this work was to verify the performance of soybean seeds treated with fungicide and film coating, prior and after storage. Five seed lots, cultivar Monsoy 6101, were treated with thiabendazole+thiram without polymer, carbendazin+thiram without polymer, without fungicide (control), without polymer, and treatments by film coating (with polymer). The physiological and sanitary quality of the seeds was evaluated initially and after six months storage, under environmental conditions, according to the following characteristics: water content, test of germination and emergence on tray, blotter test and cold test. The film coating associated with fungicides does not affect the physiological quality of soybean seeds and the soybean seed treatment with the fungicides thiabendazole+thiram and carbendazin+thiram improves performance and sanitary quality

Prognostic implications of left ventricular global longitudinal strain in patients with bicuspid aortic valve disease and preserved left ventricular ejection fraction

Aims In patients with bicuspid aortic valve (BAV) and preserved left ventricular (LV) ejection fraction (EF), the frequency of impaired LV global longitudinal strain (GLS) and its prognostic implications are unknown. The present study evaluated the proportion and prognostic value of impaired LV GLS in patients with BAV and preserved LVEF.Methods and results Five hundred and thirteen patients (68% men; mean age 44 +/- 18 years) with BAV and preserved LVEF (>50%) were divided into five groups according to the type of BAV dysfunction: (i) normal function BAV, (ii) mild aortic stenosis (AS) or aortic regurgitation (AR), (iii) >= moderate isolated AS, (iv) >= moderate isolated AR, and (v) >= moderate mixed AS and AR. LV systolic dysfunction based on 2D speckle-tracking echocardiography was defined as a cut-off value of LVGLS (-13.6%). The primary outcome was aortic valve intervention or all-cause mortality. The proportion of patients with LVGLS -13.6%). LVGLS was independently associated with increased risk of events (mainly aortic valve replacement): hazard ratio 1.09; P < 0.001.Conclusion Impaired LVGLS in BAV with preserved LVEF is not infrequent and was independently associated with increased risk of events (mainly aortic valve replacement events).Cardiolog

Impact of Left Ventricular Ejection Fraction on Clinical Outcomes in Bicuspid Aortic Valve Disease

BACKGROUND The prognostic impact of left ventricular ejection fraction (LVEF) in patients with bicuspid aortic valve (BAV) disease has not been previously studied. & nbsp; OBJECTIVES The purpose of this study was to determine the prognostic impact of LVEF in BAV patients according to the type of aortic valve dysfunction. & nbsp; METHODS We retrospectively analyzed the data collected in 2,672 patients included in an international registry of patients with BAV. Patients were classified according to the type of aortic valve dysfunction: isolated aortic stenosis (AS) (n = 749), isolated aortic regurgitation (AR) (n = 554), mixed aortic valve disease (MAVD) (n = 190), or no significant aortic valve dysfunction (n =1,179; excluded from this analysis). The study population was divided according to LVEF strata to investigate its impact on clinical outcomes. & nbsp; RESULTS The risk of all-cause mortality and the composite endpoint of aortic valve replacement or repair (AVR) and all-cause mortality increased when LVEF was < 60% in the whole cohort as well as in the AS and AR groups, and when LVEF was < 55% in MAVD group. In multivariable analysis, LVEF strata were significantly associated with increased rate of mortality (LVEF 50%-59%: HR: 1.83 [95% CI: 1.09-3.07]; P = 0.022; LVEF 30%-49%: HR: 1.97 [95% CI: 1.13-3.41]; P = 0.016; LVEF < 30%: HR: 4.20 [95% CI: 2.01-8.75]; P < 0.001; vs LVEF 60%-70%, reference group). & nbsp; CONCLUSIONS In BAV patients, the risk of adverse clinical outcomes increases significantly when the LVEF is < 60%. These findings suggest that LVEF cutoff values proposed in the guidelines to indicate intervention should be raised from 50% to 60% in AS or AR and 55% in MAVD. (J Am Coll Cardiol 2022;80:1071 & ndash;1084) (c) 2022 by the American College of Cardiology Foundation