Sangiorgi M, Fragola P V, Capria A
Ann Ital Med Int. 1989 Jan-Mar;4(1):32-9.
Current knowledge and assumptions about inherited cardiovascular diseases are reported in this review. They are examined from two different points of view. In the first section (familial cardiovascular diseases) discussion will center on the main cardiovascular diseases that have a definite clinical and pathophysiological feature in which familial occurrence has been extensively demonstrated. The genetic aspects of the primary cardiomyopathies, mitral valve prolapse, arrhythmias and conduction disturbances, long QT syndromes and abnormalities of ventricular repolarization, cardiovascular malformations, coronary artery disease, essential hypertension and rheumatic fever will be examined. In the second section (cardiovascular involvement in genetic disorders) discussion will be confined to the inherited multisystem disorders involving the cardiovascular system that most frequently occur in clinical practice. Currently known cardiovascular findings in relationship to chromosomal aberrations, connective tissue disorders, metabolic and enzymatic disorders, neuromuscular disorders and other rarer syndromes will be reported.
本综述报告了目前关于遗传性心血管疾病的知识和假设。从两个不同的角度对它们进行了审视。在第一部分(家族性心血管疾病)中,讨论将集中于具有明确临床和病理生理特征且家族性发病已得到广泛证实的主要心血管疾病。将探讨原发性心肌病、二尖瓣脱垂、心律失常和传导障碍、长QT综合征和心室复极异常、心血管畸形、冠状动脉疾病、原发性高血压和风湿热的遗传方面。在第二部分(遗传性疾病中的心血管受累)中,讨论将局限于临床实践中最常出现的累及心血管系统的遗传性多系统疾病。将报告目前已知的与染色体畸变、结缔组织疾病、代谢和酶紊乱、神经肌肉疾病以及其他罕见综合征相关的心血管发现。