Ebstein anomaly and Trisomy 21: A rare association
نویسندگان
چکیده
منابع مشابه
Ebstein anomaly and hypertrophic cardiomyopathy.
sarcalumenin: phosphorylation, comparison with the skeletal muscle sarcalumenin and modulation of ryanodine receptor. J Membr Biol 1999;170: 39–49. 29. Cala SE, Jones LR. Phosphorylation of cardiac and skeletal muscle calsequestrin isoforms by casein kinase II. Demonstration of a cluster of unique rapidly phosphorylated sites in cardiac calsequestrin. J Biol Chem 1991;266:391–398. 30. Szegedi C...
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Tricuspid valve dysplasia (TVD) is a congenital deformity of tricuspid valve (TV), chordae tendineae, or papillary muscles resulting in insufficiency of tricuspid valve. The downward displacement of tricuspid valve leaflets into the right ventricle (RV) i.e. right ventricular atrialization results in a rare malformation called Ebstein’s anomaly [1,2]. No doubt tricuspid valve dysplasia in dogs ...
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To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value is significantly higher than the 75%-80% maternal nondisjunction rate typical...
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BACKGROUND Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE We performed a population-based study to...
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Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher ri...
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ژورنال
عنوان ژورنال: Annals of Pediatric Cardiology
سال: 2014
ISSN: 0974-2069
DOI: 10.4103/0974-2069.126569