Knowledge–practice interconnection

The clinical and basic research on bicuspid aortic valve (BAV) and associated conditions is an exponentially expanding field. As of 23 October 2013, according to a PubMed article search for the ‘bicuspid aortic valve’ (BAV) keyword in the title, as many as 288 papers have been published on this topic between 2008 and 2012, versus 140 from 2003 through 2007 and only 48 in the preceding 5 years. Nevertheless, very little is known about the genetic background of the most common congenital cardiac malformation and its related valvular and vascular morbidities.1 With such an increasingly intensive research on an apparently niche topic, why does the pathogenesis of bicuspid aortopathy represent a still undeciphered mystery today? Although it may be not the only answer to this question, the general unawareness of the heterogeneity of conditions pooled under the single denomination of ‘bicuspid aortopathy’ has undoubtedly contributed to hamper knowledge advancements.1 Another obstacle has been represented by the tendency to equate bicuspid aortopathy to the aortic disease occurring in Marfan's syndrome and other known genetically determined aortopathies.2 The study by Detaint et al3 confirms previously forwarded evidence that (1) BAV-related aortopathy is remarkably heterogeneous in terms of both phenotype and prognosis and (2) it should not be equated with Marfan aortopathy. Insights like these can importantly impact both future research and current clinical practice: first, they support the hypothesis of an underlying pathogenetic heterogeneity that must be taken into adequate account when addressing BAV aortopathy in basic research, and second, the clinical approach cannot be the same as for genetically determined systemic connective tissue diseases. Of note, the latest guidelines for surgical replacement of the ascending aorta from the American Heart Association (AHA)/American College of Cardiology (ACC)2 do include BAV among those syndromic aortopathies, when recommending prophylactic surgery …