Key result
3D TOE confirms posterior mitral leaflet hypoplasia and detects associated congenital anomalies.
Why the study?
Posterior mitral leaflet hypoplasia is rare and frequently under-recognized in adults because transthoracic echocardiography findings may be subtle.
Does 3D TOE improve the diagnosis and characterization of posterior mitral leaflet hypoplasia and associated anomalies in adults compared to TTE?
Case Report (n=3)
Does 3D TOE improve the diagnosis and characterization of posterior mitral leaflet hypoplasia and associated anomalies in adults compared to TTE?
3D TOE is a valuable diagnostic tool for confirming posterior mitral leaflet hypoplasia and detecting associated congenital anomalies when TTE findings are equivocal.
3D TOE aids PML hypoplasia recognition when TTE is subtle; leaves open prevalence, associations, and management pending larger studies.
Background Posterior mitral leaflet (PML) hypoplasia is a rare and frequently under-recognized condition in adults, as transthoracic echocardiography (TTE) findings may be subtle. Transoesophageal echocardiography (TOE), particularly with three-dimensional (3D) imaging, is invaluable in confirming leaflet morphology and identifying associated anomalies. Case summary We describe three adult patients with PML hypoplasia confirmed by 3D TOE. Common features included rudimentary posterior leaflet, elongated anterior leaflet, and frequent association with congenital anomalies including bicuspid aortic valve and interatrial communications. Mitral regurgitation severity varied from mild to severe. Management was individualized based on symptoms and MR severity, ranging from conservative follow-up to surgical intervention. Discussion This series underscores the practical role of 3D TOE when TTE is equivocal: it defines leaflet morphology, distinguishes hypoplastic PML from rheumatic pathology, and detects associated anomalies that influence management. A pragmatic pathway is to suspect PML hypoplasia when MR lacks an obvious mechanism on TTE, proceed to targeted TOE/3D imaging, and tailor treatment to symptoms and MR severity.
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Young et al. (2026) conducted a case report in Posterior mitral leaflet (PML) hypoplasia (n=3). Three-dimensional transoesophageal echocardiography (3D TOE) was evaluated. In 3 adult patients, 3D transoesophageal echocardiography successfully confirmed posterior mitral leaflet hypoplasia, defined leaflet morphology, and detected associated congenital anomalies.
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