A Congenital Gerbode Defect associated with a Rare Structural Abnormality of the Mitral Valve Diagnosed in an Adult Patient

Abstract

We report the case of a rare association of a congenital Gerbode defect with severe mitral regurgitation due to abnormal linear structure of mitral valve, diagnosed in an adult patient. The case highlights the importance of a thorough examination interpreting the echocardiographic findings on a pathophysiological basis. It also underlines the complementary role of different imaging techniques with transesophageal echocardiography, allowing the precise assessment of both structural and functional abnormalities in such a complex case. The patient underwent mitral valve replacement with a bileaflet mechanical prosthesis and repair of the Gerbode defect. The imaging findings were confirmed during the surgical procedure, leading to a good outcome.

Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

“…According to the literature review by Yuan, TEE was superior to TTE in terms of diagnostic accuracy, rate of missed diagnoses, and rate of inclusive diagnoses, whereas misdiagnosis rates did not differ between TTE and TEE [ 5 ]. TEE can be used to more accurately visualize the anatomic location and direction of the shunt, as well as to avoid diagnostic errors like a ruptured sinus of Valsalva, VSD, and tricuspid regurgitation [ 6 ]. The most suitable views to display the LV-RA shunt are described as the midesophageal four4- chambers view, midesophageal right ventricle inflow–outflow view, and midesophageal reversed four4 -chamber view (130–160°) [ 50 ].…”

“…Its accurate assessment facilitates differentiation from misdiagnoses such as ruptured sinus of Valsalva, endocardial cushion defects, VSDs, and tricuspid regurgita-tion [ 4 , 33 , 46 , 56 ]. These findings may have clinical implications for decision-making regarding indications for and type of treatment, guiding the sizing and placement of percutaneous closure, as well as and planning surgical management [ 6 , 57 , 58 ].…”

“…The acquired form is much more common than the congenital form and is described frequently in the literature. Causes of acquired defects include trauma, endocarditis, myocardial infarction or invasive cardiac procedures [ 4 , 5 , 6 ].…”