Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect

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Molecular mechanisms of Ellis-van Creveld gene variations in ventricular septal defect

The Ellis-van Creveld (EVC) gene is associated with various congenital heart diseases. However, studies on EVC gene variations in ventricular septal defect (VSD) and the underlying molecular mechanisms are sparse. The present study detected 11 single‑nucleotide polymorphisms (SNPs) in 65 patients with VSD and 210 control patients from the Chinese Han population. Of the identified SNPs only the ...

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Ventricular septal defect.

Ventricular septal defects account for up to 40% of all congenital cardiac malformations. The diagnosis encompasses a broad range of anomalies, including isolated defects and those associated with other congenital cardiac malformations. Presentation, symptoms, natural history, and management of ventricular septal defects depend on size and anatomical associations of the anomaly, patient's age, ...

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Ventricular Septal Defect

Ventricular septal defect (VSD) is the persistence of one or more holes in the septum that separates the left and right ventricles of the heart. The ventricles are a single chamber at about four weeks of gestation but by eight weeks it has been divided into two. Failure of development of any part of the septum results in a defect. It may vary considerably in terms of size and haemodynamic conse...

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Small Ventricular Septal Defect

T HE auscultatory and phonocardiographic characteristics of ventricular septal defects have been the subject of several studies,'-5 none of them dealing specifically with the features of small defects. The present study represents an attempt to define the phonocardiographic pattern of ventricular septal defect with a small left-to-right shunt and normal pulmonary artery pressure. It was hoped t...

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Simulating Ventricular Septal Defect

The classic findings of a patent ductus arteriosus in a young individual are familiar to most physicians. However, it has been appreciated that several factors, principally pulmonary hypertension or pulmonary artery dilatation in the absence of appreciable hypertension, may significantly alter the classic image and lead to the erroneous diagnosis of ventricular septal defect. In 10 surgically p...

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ژورنال

عنوان ژورنال: Molecular Medicine Reports

سال: 2017

ISSN: 1791-2997,1791-3004

DOI: 10.3892/mmr.2017.8088