Mesh : Ebstein Anomaly / genetics physiopathology diagnostic imaging Humans Tricuspid Valve / abnormalities physiopathology Genetic Predisposition to Disease Mutation

来  源:   DOI:10.1007/978-3-031-44087-8_57

Abstract:
Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is characterized by displacement of the tricuspid valve toward the apex of the right ventricle (RV) and \"atrialization\" of the RV (Fig. 57.1) [2]. EA accounts for about 0.5% of all congenital heart diseases (CHD) [2]. Depending on severity of the defect and due to heterogeneity of the disease, patient\'s presentation varies from severe heart failure symptoms and arrhythmia in neonatal life to asymptomatic adults.
摘要:
Ebstein异常(EA)是一种罕见的,先天性三尖瓣心脏缺陷,出生患病率在0.5至1/20,000[1]之间。其特征在于三尖瓣向右心室(RV)的尖端移位和RV的“心房化”(图57.1)[2]。EA约占所有先天性心脏病(CHD)的0.5%[2]。根据缺陷的严重程度和疾病的异质性,患者的表现从新生儿生活中的严重心力衰竭症状和心律失常到无症状的成年人不等。
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