Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R+3 more
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Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert+17 more
core +12 more sources
22q11.2 deletion syndrome [PDF]
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S.+11 more
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Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter+13 more
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Left main bronchus compression due to main pulmonary artery dilatation in pulmonary hypertension: two case reports [PDF]
. Pulmonary arterial dilatation associated with pulmonary hypertension may result in significant compression of local structures. Left main coronary artery and left recurrent laryngeal nerve compression have been described.
Ariff, B+6 more
core +1 more source
Short-term and long-term outcomes in 133 429 emergency patients admitted with angina or myocardial infarction in Scotland, 1990-2000: population-based cohort study [PDF]
Objective: To analyse short- and long-term outcomes and prognostic factors in a large population-based cohort of unselected patients with a first emergency admission for suspected acute coronary syndrome between 1990 and 2000 in Scotland. Methods: All
Boyd, J.+9 more
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Frequency of 22q11 deletions in patients with conotruncal defects [PDF]
Objectives. This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also ...
Chien, Peggy+11 more
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Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A+9 more
core +1 more source
2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents [PDF]
Increasing prevalence of hypertension (HTN) in children and adolescents has become a significant public health issue driving a considerable amount of research.
Agabiti-Rosei, Enrico+18 more
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Replacing vascular corrosion casting by in-vivo micro-CT imaging for building 3D cardiovascular models in mice [PDF]
The purpose of this study was to investigate if in vivo micro-computed tomography (CT) is a reliable alternative to micro-CT scanning of a vascular corrosion cast. This would allow one to study the early development of cardiovascular diseases.
Casteleyn, Christophe+7 more
core +1 more source