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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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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Objectives: We analyzed and summarized the ultrasonic and anatomical features of fetal Ebstein anomaly to improve the ultrasonographic diagnostic rate. Methods: We analyzed the fetal echocardiographs and either the postnatal echocardiographs or anatomical specimens of 13 cases of fetal Ebstein anomaly. The cases were divided into typical and rare types according to the features of the Ebstein a...
متن کاملEbstein Anomaly With Right Atrial Clot
Ebstein anomaly (EA) is a rare congenital malformation of the tricuspid valve (TV), often associated with other cardiac malformations, especially atrial septal defect/patent foramen ovale (PFO) which is present in 80-90% of patients and predisposes to paradoxical embolization. We describe the case of a 17-year-old female, who presented with worsening exertional dyspnea, fatigue and pedal edema ...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2017
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.116.001683