title: An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insights.
abstract: Congenital tricuspid valve disease is a rare defect that includes regurgitation, stenosis and Ebstein's anomaly. We report a case of severe tricuspid regurgitation associated with functional mitral regurgitation in a 47-year-old man with congestive heart failure. Transthoracic echocardiography (TTE) ruled out any Ebstein's anomaly. Three-dimensional TTE revealed a 'tricuspid hole' into the anterior leaflet that was only attached to the tricuspid annulus next to both anteroseptal and anteroposterior commissures. There was no sign of leaflet tear or perforation. The surgical repair of the tricuspid and mitral valves was performed with an optimal result. No sign of endocarditis or rheumatic disease was observed during the intervention. Sequence analysis of GATA4, HEY2 and ZFPM2 genes was performed, but no causative mutation was identified.
authors.affiliation: Department of Cardiac Surgery, La Timone Hospital, Marseille, France Aix Marseille Université, GMGF 13385, Marseille, France Inserm, UMR_S910, 13385 Marseille, France.
authors.forename: Alexis
authors.initials: A
authors.lastname: Theron
authors.affiliation: Aix Marseille Université, GMGF 13385, Marseille, France Inserm, UMR_S910, 13385 Marseille, France.
authors.forename: Amélie
authors.initials: A
authors.lastname: Pinard
authors.affiliation: Department of Cardiac Surgery, La Timone Hospital, Marseille, France.
authors.forename: Alberto
authors.initials: A
authors.lastname: Riberi
authors.affiliation: Aix Marseille Université, GMGF 13385, Marseille, France Inserm, UMR_S910, 13385 Marseille, France stephane.zaffran@univ-amu.fr.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Zaffran
mesh_terms: D019560:Echocardiography, Three-Dimensional; D006801:Humans; D008297:Male; D008875:Middle Aged; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology / Q000601:surgery
keywords: Echocardiography; Tricuspid valve; Valvular heart disease