942-42 Is Mitral Valve Prolapse with Significant Mitral Regurgitation a Different Condition from Uncomplicated Mitral Prolapse? Results of Family Studies

Mild instances of mitral valve prolapse (MVP) have been suggested to represent variants of normal, whereas individuals with complicated forms of MVP have a distinct medical condition. This hypothesis would predict different phenotypic features and patterns of inheritance in relatives of index cases with complicated or uncomplicated MVP. Accordingly, we performed clinical and echocardiographic assessment of 16 MVP patients with and 76 without moderate to severe mitral regurgitation (MR+and MR– probands) and 60 and 256, respectively, first-degree relatives (MR+ and MR– relatives). MR+ probands were older (p = 0.01), more likely to be male (p = 0.002), were more overweight (p = 0.004) and had higher systolic blood pressures (p = 0.05) and larger aortic roots (p = 0.034) after the effects of age and body size were taken into account. MR+ and MR– relatives had similar prevalences (27 and 32%) and age distribution of MVP, but affected MR+ relatives were younger (expected because more children and fewer parents of MR+ probands could be evaluated). and more likely to be male. MR+ and MR- relatives were virtually identical in regard to body habitus, blood pressure, the prevalence of auscultatory findings, thoracic bony abnormalities and palpitations and all echo measurements including anterior mitral leaflet thickness. Four instances of significant MR and two MVP-related complications (infective endocarditis and transient ischemic attack) occurred in the 82 relatives of MR– probands as opposed to none among relatives of MR+ probands. In 20 families, one proband or relative with MVP had severe MR and at least one other with MVP (presumably due to the same gene) was free of MR or complications. Thus, MVP with severe MR does not represent a heritable phenotype and commonly coexists with mild forms of MVP in the same family, making their classification as separate conditions illogical and potentially misleading.