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<p>Hypoplasia of the posterior mitral valve leaflet (PMVL) is a congenital cardiac anomaly that poses diagnostic challenges on routine echocardiography. Its association with atrial septal defect (ASD), particularly when diagnosed in adulthood, is infrequent, with only isolated case reports documented in the literature. A 65-year-old woman presented with a four-year history of progressive exertional dyspnea, which escalated to dyspnea at rest over the preceding month. Despite prior treatment for mild intermittent asthma, her symptoms persisted. Initial echocardiography attributed pulmonary hypertension to underlying lung disease and right ventricular enlargement, but failed to identify concomitant ASD. Referred for advanced imaging, transesophageal echocardiography (TEE) revealed mild left ventricular dysfunction, severe right atrial and ventricular dilatation with systolic impairment, a hypoplastic PMVL (5&#xa0;mm length) with moderate mitral regurgitation, and two large secundum-type ASDs. Cardiac auscultation demonstrated a grade 4/6 holosystolic murmur and fixed splitting of the second heart sound (S2). Although right heart catheterization was indicated to assess pulmonary vascular resistance and guide therapeutic decisions, the patient declined further intervention. The coexistence of hypoplastic PMVL and ASD represents a rare yet clinically significant congenital cardiac anomaly that is frequently overlooked. This case underscores the critical role of advanced imaging modalities, particularly three-dimensional TEE, in delineating complex valvular and septal pathologies to inform surgical management.</p>

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Hypoplastic Posterior Mitral Valve Leaflet and Atrial Septal Defect: A Case Report

  • 期刊论文

  • 发表日期：

    2025年6月14日

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  • Mehrdad Jafari Fesharaki,
  • Sepideh Jame Bozorgi,
  • Fariba Bayat,
  • Abdoulhamid Bagheri,
  • Mohammad Khani,
  • Nahid Mohebi Saeen

摘要

Hypoplasia of the posterior mitral valve leaflet (PMVL) is a congenital cardiac anomaly that poses diagnostic challenges on routine echocardiography. Its association with atrial septal defect (ASD), particularly when diagnosed in adulthood, is infrequent, with only isolated case reports documented in the literature. A 65-year-old woman presented with a four-year history of progressive exertional dyspnea, which escalated to dyspnea at rest over the preceding month. Despite prior treatment for mild intermittent asthma, her symptoms persisted. Initial echocardiography attributed pulmonary hypertension to underlying lung disease and right ventricular enlargement, but failed to identify concomitant ASD. Referred for advanced imaging, transesophageal echocardiography (TEE) revealed mild left ventricular dysfunction, severe right atrial and ventricular dilatation with systolic impairment, a hypoplastic PMVL (5 mm length) with moderate mitral regurgitation, and two large secundum-type ASDs. Cardiac auscultation demonstrated a grade 4/6 holosystolic murmur and fixed splitting of the second heart sound (S2). Although right heart catheterization was indicated to assess pulmonary vascular resistance and guide therapeutic decisions, the patient declined further intervention. The coexistence of hypoplastic PMVL and ASD represents a rare yet clinically significant congenital cardiac anomaly that is frequently overlooked. This case underscores the critical role of advanced imaging modalities, particularly three-dimensional TEE, in delineating complex valvular and septal pathologies to inform surgical management.