2015
Mutations in DCHS1 cause mitral valve prolapse
Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Mutations in DCHS1 cause mitral valve prolapse. Nature 2015, 525: 109-113. PMID: 26258302, PMCID: PMC4720389, DOI: 10.1038/nature14670.Peer-Reviewed Original Research
2002
Mitral valve prolapse in the general population the benign nature of echocardiographic features in the Framingham Heart Study
Freed LA, Benjamin EJ, Levy D, Larson MG, Evans JC, Fuller DL, Lehman B, Levine RA. Mitral valve prolapse in the general population the benign nature of echocardiographic features in the Framingham Heart Study. Journal Of The American College Of Cardiology 2002, 40: 1298-1304. PMID: 12383578, DOI: 10.1016/s0735-1097(02)02161-7.Peer-Reviewed Original ResearchConceptsMitral valve prolapseClassic mitral valve prolapseFramingham Heart StudyMitral regurgitationHeart StudyEchocardiographic featuresValve prolapsePossible mitral valve prolapseTwo-dimensional echocardiographic criteriaReferral-based seriesSignificant mitral regurgitationGender-matched subjectsMR jet areaMR degreeEchocardiographic abnormalitiesEchocardiographic characteristicsAtrial enlargementEchocardiographic criteriaLA volumeVentricular abnormalitiesVentricular sizeClinical complicationsReferral seriesBenign profileGeneral population