Thiene Gaetano, Fedrigo Marny
Cardiovascular Pathology, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Medical School, University of Padua, 35123 Padova, Italy.
Biomedicines. 2025 Apr 4;13(4):875. doi: 10.3390/biomedicines13040875.
Congenital heart diseases (CHDs) are usually defined as structural anomalies of the heart and great arteries, present since birth, that are due to embryological maldevelopment, with overt or potential dysfunction. Nowadays, most of the patients with CHD in adulthood (age > 18 years) had been operated on with success in infancy or childhood and undergo periodical screening. Pathology and nosology of CHDs are herein treated with special attention to adulthood according to the involved cardiac structures (aorta, valves, coronary arteries, myocardium, great arteries, conduction system). Moreover, the purpose is to postulate, in the era of molecular medicine, that genetically determined defects are also congenital cardiac disorders, with or without structural abnormality, and should be defined CHDs as well since their molecular background is material and present since conception.
先天性心脏病（CHDs）通常被定义为自出生时就存在的心脏和大动脉结构异常，这是由于胚胎发育异常所致，伴有明显或潜在的功能障碍。如今，大多数成年先天性心脏病患者（年龄>18岁）在婴儿期或儿童期已成功接受手术，并接受定期筛查。本文根据所涉及的心脏结构（主动脉、瓣膜、冠状动脉、心肌、大动脉、传导系统），特别关注成年期先天性心脏病的病理学和疾病分类学。此外，目的是在分子医学时代假定，基因决定的缺陷也是先天性心脏疾病，无论有无结构异常，并且由于其分子背景在受孕时就已存在且至关重要，因此也应定义为先天性心脏病。
