Department of Cardiology, Leiden University Medical Center, The Netherlands.
Department of Thoracic Surgery, Leiden University Medical Center, The Netherlands.
Eur J Prev Cardiol. 2020 Feb;27(3):272-280. doi: 10.1177/2047487319874148. Epub 2019 Sep 2.
Initial studies have suggested the familial clustering of mitral valve prolapse, but most of them were either community based among unselected individuals or applied non-specific diagnostic criteria. Therefore little is known about the familial distribution of mitral regurgitation in a referral-type population with a more severe mitral valve prolapse phenotype. The objective of this study was to evaluate the presence of familial mitral regurgitation in patients undergoing surgery for mitral valve prolapse, differentiating patients with Barlow's disease, Barlow forme fruste and fibro-elastic deficiency.
A total of 385 patients (62 ± 12 years, 63% men) who underwent surgery for mitral valve prolapse were contacted to assess cardiac family history systematically. Only the documented presence of mitral regurgitation was considered to define 'familial mitral regurgitation'. In the probands, the aetiology of mitral valve prolapse was defined by surgical observations.
A total of 107 (28%) probands were classified as having Barlow's disease, 85 (22%) as Barlow forme fruste and 193 (50%) patients as fibro-elastic deficiency. In total, 51 patients (13%) reported a clear family history for mitral regurgitation; these patients were significantly younger, more often diagnosed with Barlow's disease and also reported more sudden death in their family as compared with 'sporadic mitral regurgitation'. In particular, 'familial mitral regurgitation' was reported in 28 patients with Barlow's disease (26%), 15 patients (8%) with fibro-elastic deficiency and eight (9%) with Barlow forme fruste ( < 0.001).
In a large cohort of patients operated for mitral valve prolapse, the self-reported prevalence of familial mitral regurgitation was 26% in patients with Barlow's disease and still 8% in patients with fibro-elastic deficiency, highlighting the importance of familial anamnesis and echocardiographic screening in all mitral valve prolapse patients.
最初的研究表明二尖瓣脱垂存在家族聚集性，但大多数研究要么是在未选择的人群中进行的社区研究，要么应用了非特异性的诊断标准。因此，对于一个以二尖瓣脱垂表型更为严重的转诊人群，对于二尖瓣反流的家族分布知之甚少。本研究的目的是评估接受二尖瓣脱垂手术的患者中家族性二尖瓣反流的存在情况，区分具有巴洛氏病、巴洛氏轻度和纤维弹性缺乏的患者。
共联系了 385 名（62±12 岁，63%为男性）因二尖瓣脱垂接受手术的患者，系统评估心脏家族史。只有记录到二尖瓣反流的存在才被认为是“家族性二尖瓣反流”。在先证者中，二尖瓣脱垂的病因通过手术观察来定义。
共有 107 名（28%）先证者被归类为巴洛氏病，85 名（22%）为巴洛氏轻度，193 名（50%）患者为纤维弹性缺乏。共有 51 名患者（13%）报告了明确的家族性二尖瓣反流病史；这些患者明显更年轻，更常被诊断为巴洛氏病，并且他们的家族中也报告了更多的猝死。特别是，28 名巴洛氏病患者（26%）、15 名纤维弹性缺乏患者（8%）和 8 名巴洛氏轻度患者（9%）报告了“家族性二尖瓣反流”（ < 0.001）。
在一个接受二尖瓣脱垂手术的大患者队列中，自我报告的家族性二尖瓣反流患病率在巴洛氏病患者中为 26%，在纤维弹性缺乏患者中仍为 8%，突出了家族史和超声心动图筛查在所有二尖瓣脱垂患者中的重要性。
