PDF(Pubmed)
Abstract：
Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitral valve prolapse and bicuspid aortic valve. These conditions can arise secondary to genetic syndromes such as Marfan disease (associated with mitral valve prolapse) or Turner syndrome (linked to the bicuspid aortic valve) or may manifest in a non-syndromic form. When cardiac valve disease is the primary cause, it can appear in a familial clustering or sporadically, with a clear genetic component. The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies. In the present review we will discuss the numerous genetic contributors of heart valve diseases.
摘要：
瓣膜病变是最常见的心血管疾病之一，显着增加发病率和死亡率。虽然许多心脏瓣膜病是在以后的生活中获得的，已经描述了一个重要的遗传成分，尤其是二尖瓣脱垂和主动脉瓣二叶。这些病症可以继发于遗传综合征,例如马凡病(与二尖瓣脱垂相关)或特纳综合征(与二叶主动脉瓣相关),或者可以以非综合征形式表现。当心脏瓣膜疾病是主要原因时，它可以出现在家族聚集中或偶尔出现，具有明确的遗传成分。新基因的鉴定，监管要素，转录后修饰，和分子途径对于识别高危家族携带者和开发新的治疗策略至关重要。在本综述中，我们将讨论心脏瓣膜疾病的众多遗传因素。
