Background

In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes.

Methods

The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review.

Results

A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006).

Conclusions

Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation.

中文翻译：

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遗传综合征患者双尖瓣主动脉的形态特征

背景

在患有双尖瓣主动脉瓣（BAV）的患者中，随着时间的发展，会出现包括进行性主动脉瓣狭窄和主动脉扩张在内的并发症。尖端融合的形态是这些并发症的类型和严重程度的决定因素之一。我们提出了具有独特遗传综合症的BAV患者的牙尖融合形态的关联。

方法

回顾性地回顾了Mayo临床超声心动图数据库，以鉴定1990年至2016年诊断为BAV的患者（年龄≤22岁）。根据超声心动图研究确定了尖锐的融合形态，而通过图表检查确定了共存的心脏缺陷和遗传综合征。

结果

总共确定了1,037例BAV患者：550例（53％）患有孤立性BAV，299例（29％）患有BAV和先天性心脏病并存，188例（18％）患有BAV和遗传综合征或疾病共存。三组之间的形态分布没有差异。然而，右-非冠状动脉（RN）牙尖融合是唐氏综合症（P  = .002）的主要形态，而右-左（RL）牙尖融合是Turner综合征（P  = .02），DiGeorge综合征的主要形态。（P  = .02）和Shone综合征（P  = .0007），与孤立BAV患者的瓣膜形态相比。孤立的BAV RN尖瓣融合患者的升主动脉直径较大（P = .001）和更多的≥中度主动脉瓣关闭不全的患者（P  = .02），而RL尖瓣融合的患者窦房静脉直径较大（P  = .0006）。

结论

BAV的形态亚型与不同的遗传综合征相关，表明主动脉瓣畸形的发育途径存在明显的扰动。