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[Echocardiographic evaluation in unoperated congenital heart disease in adults].

Echo and Doppler echocardiographic procedures have gained special importance in the diagnostics of congenital diseases in adults. These procedures permit detailed visualization of the pathomorphology of the heart as well as reliable evaluation of the hemodynamic changes. There are differentiated indications for the various procedures, such as transthoracic and transesophageal echocardiography, Doppler and color-Doppler echocardiography, contrast echocardiography and 3-dimensional echocardiography. This article discusses the opposition of the various echo and Doppler echocardiographic procedure

Pregnancy loss in major fetal congenital heart disease: incidence, risk factors and timing.

OBJECTIVE: Fetuses with congenital heart disease (CHD) are at increased risk of pregnancy loss compared with the general population. We aimed to assess the incidence, timing and risk factors of pregnancy loss in cases with major fetal CHD, overall and according to cardiac diagnosis. METHODS: This was a retrospective, population-level cohort study of fetuses and infants diagnosed with major CHD between 1997 and 2018 identified by the Utah Birth Defect Network (UBDN), excluding cases with termination of pregnancy and minor cardiovascular diagnoses (e.g. isolated aortic/pulmonary pathology and i

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most c

Cardiac transplantation in adult congenital heart disease: a narrative review.

BACKGROUND AND OBJECTIVE: As more children with congenital heart disease survive to adulthood, adult congenital heart disease (ACHD) prevalence will increase (currently ~1 million US patients). Heart failure (HF) accounts for 26-42% of ACHD deaths. The rate of ACHD heart transplantations (ACHD HTx) is also increasing. We describe the ACHD HTx recipient/candidate cohort, analyze ACHD HTx outcomes, identify ACHD HTx specific challenges, and discuss opportunities to better serve more patients with ACHD HF. METHODS: PubMed literature search including articles published from 2010-2023. Reviewed 89

Совпадение в полном тексте источника
… Author | Country | Study period | Patients assessed or transplanted | Fontan/Glenn (% of total) | Other single ventricle (% of total) | Transposition of the great arteries (% of total) | Ebstein anomaly (% of total) | Right heart pathology (e.g., TOF, pulmonary stenosis) (% of total) | Left heart pathology …

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

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Defining diagnostic trajectories in patients with podocytopathies.

Podocytopathies are glomerular disorders in which podocyte injury drives proteinuria and progressive kidney disease. They encompass a broad spectrum of aetiologies, resulting in pathological pictures of minimal-changes, focal segmental glomerulosclerosis, diffuse mesangial sclerosis or collapsing glomerulopathy. Despite improvement in classifying podocytopathies as a distinct group of disorders, the histological definition fails to capture the relevant biological heterogeneity underlying each case, manifesting as extensive variability in disease progression and response to therapies. Increasin

Pulmonary Hypertension in an Oncologic Intensive Care Unit

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Резюме ESPR 2013Европейское общество педиатрической радиологии 50th Ежегодное совещание и 36th Курсы для аспирантов. Июнь 3–7 2013. Будапешт, Венгрия.

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СРП 2013

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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Abstracts from the World Congress of Cardiology/Brazilian Congress of Cardiology 2022

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Abstract

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… The tricuspid valve presents eccentric regurgitation directed towards the IAS due to prolapse of the posterior leaflet, grade 4+/4 insufficiency, annulus 50 mm, it shows no signs of fissuring, there are no electrocatheters, no Ebstein anomaly is detected. …

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease.

The well-orchestrated turnover of proteins in cross-striated muscles is one of the fundamental processes required for muscle cell function and survival. Dysfunction of the intricate protein degradation machinery is often associated with development of cardiac and skeletal muscle myopathies. Most muscle proteins are degraded by the ubiquitin-proteasome system (UPS). The UPS involves a number of enzymes, including E3-ligases, which tightly control which protein substrates are marked for degradation by the proteasome. Recent data reveal that E3-ligases of the cullin family play more diverse and c

Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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Резюме

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