Dima-Cozma Corina, Cojocaru Doina-Clementina, Chiriac Silvia, Negru R, Mitu F
1st Medical Department Rehabilitation Clinical Hospital lasi.
Cardiovascular Rehabilitation Clinic, University of Medicine and Pharmacy, Grigore T. Popa - Iasi.
Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):674-9.
Ebstein's anomaly is a rare congenital heart disease, accounting for less than 1% of all congenital heart diseases, characterized by a wide clinical, electrocardiographic, echocardiographic, anatomic and prognostic polymorphism. The disease can be fatal since birth or may remain asymptomatic until adulthood, sometimes being associated with septal defects, transposition of great vessels, preexcitation syndromes, or left ventricular noncompaction. The genetic changes underlying this syndrome are not fully known, but in the cases associating left ventricular nonompaction a mutation in MYH7 gene encoding the beta-myosin heavy chain was recently detected. The authors present 2 cases of Ebstein's anomaly with different onset and course and discuss the current clinical, electrocardiographic and echocardiographic criteria used for prognostic stratification of Ebstein disease in relation to international literature.
埃布斯坦畸形是一种罕见的先天性心脏病,占所有先天性心脏病的比例不到1%,其特点是在临床、心电图、超声心动图、解剖结构和预后方面具有广泛的多态性。这种疾病自出生起可能就是致命的,或者可能直到成年都没有症状,有时还与室间隔缺损、大动脉转位、预激综合征或左心室心肌致密化不全有关。导致该综合征的基因变化尚不完全清楚,但在与左心室心肌致密化不全相关的病例中,最近检测到编码β-肌球蛋白重链的MYH7基因突变。作者介绍了2例埃布斯坦畸形病例,其发病和病程不同,并结合国际文献讨论了目前用于埃布斯坦病预后分层的临床、心电图和超声心动图标准。