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Infravalvular type of Gerbode defect: a rare cardiac anomaly Kunal Mahajan, Prakash Negi, Sanjeev Asotra, Vivek Rana Indira Gandhi Medical College, Shimla, Himachal Pradesh, India Correspondence to Dr Kunal Mahajan, [email protected] Accepted 30 January 2016 To cite: Mahajan K, Negi P, Asotra S, et al. BMJ Case Rep Published online: [ please include Day Month Year] doi:10.1136/bcr-2015- 214091 DESCRIPTION A Gerbode defect is a rare type of ventricular septal defect (VSD), classically described as a direct communication between left ventricle (LV) and right atrium (RA). 1 However, it may be supravalvular (direct shunt), infravalvular (indirect shunt) or mixed. The infravalvular type is a VSD with a left-to-right shunt at the ventricular level, associated with tricuspid regurgitation (TR), which directs the high-velocity shunt into RA. 2 3 A 43-year-old woman presented with symptoms of dyspnoea and palpitations. Clinical examination revealed a pansystolic murmur and grade 2 parasternal heave. ECG depicted biventricular hypertrophy along with biatrial enlargement. Echocardiogram showed a 9 mm perimembranous VSD with left-to-right shunt ( figure 1). Careful observation revealed two separate systolic tricuspid regurgitant jets from right ventricle (RV) into RA, with different timings in systole ( figure 2 and video 1). The first was the high-velocity VSD jet, which was directed into the RA through the tricus- pid valve (TV) with a high-pressure gradient of 120 mm Hg across it ( figure 3). The second was the mild TR jet. Finding two separate systolic jets across TV supported the diagnosis of infravalvular Gerbode defect and ruled out Eisenmenger VSD with TR. On cardiac catheterisation, oximetry revealed a step up in oxygen saturation of 20% at the RA level. Pulmonary artery pressure was Figure 1 Echocardiogram, apical four-chamber view, demonstrating a perimembranous VSD (arrow) with shunt from LV to RV directed to RA through TR jet. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; TR, tricuspid regurgitation; VSD, ventricular septal defect. Figure 2 Echocardiogram, modified parasternal short-axis view, demonstrating two separate TR jets: (A) first a large systolic regurgitant jet across the tricuspid valve, suggesting indirect shunting of blood from LV to RA; then (B) a second small systolic regurgitant jet across the tricuspid valve suggesting true TR. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; TR, tricuspid regurgitation; VSD, ventricular septal defect. Video 1 Echocardiogram, apical four-chamber view, demonstrating a perimembranous ventricular septal defect with two systolic regurgitant jets across the tricuspid valve from right ventricle into right atrium. Mahajan K, et al. BMJ Case Rep 2016. doi:10.1136/bcr-2015-214091 1 Images in …

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  • Infravalvular type of Gerbode defect: a rare cardiacanomalyKunal Mahajan, Prakash Negi, Sanjeev Asotra, Vivek Rana

    Indira Gandhi Medical College,Shimla, Himachal Pradesh,India

    Correspondence toDr Kunal Mahajan,[email protected]

    Accepted 30 January 2016

    To cite: Mahajan K, Negi P,Asotra S, et al. BMJ CaseRep Published online:[please include Day MonthYear] doi:10.1136/bcr-2015-214091

    DESCRIPTIONA Gerbode defect is a rare type of ventricularseptal defect (VSD), classically described as a directcommunication between left ventricle (LV) andright atrium (RA).1 However, it may be

    supravalvular (direct shunt), infravalvular (indirectshunt) or mixed. The infravalvular type is a VSDwith a left-to-right shunt at the ventricular level,associated with tricuspid regurgitation (TR), whichdirects the high-velocity shunt into RA.2 3 A43-year-old woman presented with symptoms ofdyspnoea and palpitations. Clinical examinationrevealed a pansystolic murmur and grade 2parasternal heave. ECG depicted biventricularhypertrophy along with biatrial enlargement.Echocardiogram showed a 9 mm perimembranousVSD with left-to-right shunt (figure 1). Carefulobservation revealed two separate systolic tricuspidregurgitant jets from right ventricle (RV) into RA,with different timings in systole (figure 2 andvideo 1). The first was the high-velocity VSD jet,which was directed into the RA through the tricus-pid valve (TV) with a high-pressure gradient of120 mm Hg across it (figure 3). The second wasthe mild TR jet. Finding two separate systolic jetsacross TV supported the diagnosis of infravalvularGerbode defect and ruled out Eisenmenger VSDwith TR. On cardiac catheterisation, oximetryrevealed a step up in oxygen saturation of 20%at the RA level. Pulmonary artery pressure was

    Figure 1 Echocardiogram, apical four-chamber view,demonstrating a perimembranous VSD (arrow) with shuntfrom LV to RV directed to RA through TR jet. LA, leftatrium; LV, left ventricle; RA, right atrium; RV, rightventricle; TR, tricuspid regurgitation; VSD, ventricularseptal defect.

    Figure 2 Echocardiogram, modified parasternalshort-axis view, demonstrating two separate TR jets: (A)first a large systolic regurgitant jet across the tricuspidvalve, suggesting indirect shunting of blood from LV toRA; then (B) a second small systolic regurgitant jet acrossthe tricuspid valve suggesting true TR. LA, left atrium; LV,left ventricle; RA, right atrium; RV, right ventricle; TR,tricuspid regurgitation; VSD, ventricular septal defect.

    Video 1 Echocardiogram, apical four-chamber view,demonstrating a perimembranous ventricular septaldefect with two systolic regurgitant jets across thetricuspid valve from right ventricle into right atrium.

    Mahajan K, et al. BMJ Case Rep 2016. doi:10.1136/bcr-2015-214091 1

    Images in

    http://crossmark.crossref.org/dialog/?doi=10.1136/bcr-2015-214091&domain=pdf&date_stamp=2016-02-16http://casereports.bmj.com

  • 114/39 mm Hg (mean 54). LV angiogram showed a subaorticVSD with preferential filling of RA earlier than RV (figure 4 andvideo 2). The ratio of pulmonary vascular resistance to systemicvascular resistance was 0.08. The patient underwent successfulsurgical repair of the defect.

    Competing interests None declared.

    Patient consent Obtained.

    Provenance and peer review Not commissioned; externally peer reviewed.

    REFERENCES1 Gerbode F, Hultgren H, Melrose D, et al. Syndrome of left ventricular-right atrial

    shunt: successful surgical repair of defect in five cases with observation ofbradycardia on closure. Ann Surg 1958;148:43346.

    2 Sakakibara S, Konno S. Left ventricular-right atrial communication. Ann Surg1963;158:939.

    3 Sinisalo JP, Sreeram N, Jokinen E, et al. Acquired left ventricular-right atrium shunts.Eur J Cardiothorac Surg 2011;39:5006.

    Figure 3 Echocardiogramdemonstrating high jet velocity andhigh-pressure gradient across theregurgitant jet from right ventricle intoright atrium.

    Figure 4 (AD) Successive frames of left ventricle (LV) angiogramshowing a subaortic ventricular septal defect (VSD) filling both rightventricle (RV) and right atrium (RA). Note that the initial VSD jet isdirected preferentially towards RA (B and C) and then full opacificationof both RA and RV occurs simultaneously (D).

    Video 2 Left ventricle angiogram showing a subaortic ventricularseptal defect with preferential filling of right atrium earlier than rightventricle.

    Learning points

    Gerbode defect (left ventricleright atrium shunt) is a rarecardiac anomaly that can be supravalvular, infravalvular ormixed, depending on the position of the defect in relation tothe tricuspid valve.

    Right atrial enlargement in a case of ventricular septaldefect (VSD) should raise the possibility of Gerbode defect.

    The finding of two separate tricuspid regurgitation (TR) jetswith different timings in systole helps in differentiating aninfravalvular type of Gerbode defect from Eissenmenger VSDwith TR.

    2 Mahajan K, et al. BMJ Case Rep 2016. doi:10.1136/bcr-2015-214091

    Images in

    http://dx.doi.org/10.1097/00000658-195809000-00012http://dx.doi.org/10.1097/00000658-196307000-00018http://dx.doi.org/10.1016/j.ejcts.2010.04.027

  • Copyright 2016 BMJ Publishing Group. All rights reserved. For permission to reuse any of this content visithttp://group.bmj.com/group/rights-licensing/permissions.BMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission.

    Become a Fellow of BMJ Case Reports today and you can: Submit as many cases as you like Enjoy fast sympathetic peer review and rapid publication of accepted articles Access all the published articles Re-use any of the published material for personal use and teaching without further permission

    For information on Institutional Fellowships contact [email protected]

    Visit casereports.bmj.com for more articles like this and to become a Fellow

    Mahajan K, et al. BMJ Case Rep 2016. doi:10.1136/bcr-2015-214091 3

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    Infravalvular type of Gerbode defect: a rare cardiac anomalyDescriptionReferences


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