Details

Autor(en) / Beteiligte

• Hiemstra, Yasmine L
• van Wijngaarden, Aniek L
• Bos, Mathilde W
• Barge-Schaapveld, Daniela Q
• Schalij, Martin J
• Bax, Jeroen J
• Delgado, Victoria
• Ajmone Marsan, Nina

Titel

Abstract 13348: Familial Occurrence of Mitral Valve Prolapse

Ist Teil von

• Circulation (New York, N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A13348-A13348

Ort / Verlag

by the American College of Cardiology Foundation and the American Heart Association, Inc

Erscheinungsjahr

2018

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• IntroductionSeveral studies have suggested the familial clustering of mitral valve prolapse (MVP), but most of them were either community-based among unselected individuals or applied non-specific diagnostic criteria for this valvulopathy. Therefore, little is known about the prevalence of familial MVP in a referral-type population with more severe MVP and characterized according to current aetiology classification.PurposeThe aim of this study was to evaluate the familial distribution of MVP in consecutive patients undergoing mitral valve surgery, considering the different aetiologiesBarlow’s disease (BD), Barlow forme fruste (FF) and fibro-elastic deficiency (FED).Methods385 patients (62±12 years, 63% male) who underwent mitral valve repair for MVP were contacted to assess cardiac family history. In case of a positive family history for MVP and/or BD, patients were referred for genetic counselling. Etiology of MVP was defined by surgical observation. Only documented presence of MVP was considered to define the diagnosis in the relatives.Results28% of the patients were classified as BD, 22% as Barlow FF and 50% as FED. 51 patients (13%) reported a positive family history for MVP, of which 28 with BD (26% of 107 patients), 15 with FED (8% of 193 patients) and 8 with Barlow FF (9% of 85 patients) (p<0.001). Patients with “familial MVP” were significantly younger, more often diagnosed with BD and reported more sudden death in their family as compared to “sporadic MVP” (Table). The presence of MVP was confirmed in 37 relatives (57±17 years, 52% BD) from 25 different probands31 first degree, 5 second degree relatives and 1 third degree relative. Agreement between self-reported and confirmed family history was good (κ=0.80, p<0.001).ConclusionIn a referral-type MVP population, prevalence of familial MVP is approximately 15%, reaching 26% in patients with BD and 8% in patients with FED, highlighting the importance of familial screening in all patients with MVP.