Bicuspid aortic valve (BAV) is the most common cardiovascular malformation in adults, with a prevalence of 0.5%–2%. The prevalence of BAV in cohorts who were ascertained due to thoracic aortic aneurysms or acute aortic dissections (TAD) is as high as 20%. However, the contribution of causal BAV genes to TAD is not known. Therefore, we evaluated rare deleterious variants of GATA4, NOTCH1, SMAD6, or ROBO4 in patients with BAV who presented with TAD.

中文翻译：

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NOTCH1，GATA4，SMAD6和ROBO4的罕见有害变体富含具有早期发病并发症的BAV，但不具有遗传性胸主动脉疾病的BAV丰富。

双尖瓣主动脉瓣（BAV）是成年人中最常见的心血管畸形，患病率为0.5％–2％。在因胸主动脉瘤或急性主动脉夹层（TAD）确诊的队列中，BAV的患病率高达20％。但是，因果BAV基因对TAD的贡献尚不清楚。因此，我们评估了出现TAD的BAV患者中GATA4，NOTCH1，SMAD6或ROBO4的罕见有害变异。