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 Table of Contents  
INTERESTING CASE REPORT
Year : 2021  |  Volume : 5  |  Issue : 1  |  Page : 43-46

Intermediate Type of Gerbode Defect Associated with Atrial Septal Defect: An Extremely Rare Anomaly


1 Department of Cardiology, Yashoda Hospitals, Hyderabad, Telangana, India
2 Indira Nursing Home, Hyderabad, Telangana, India

Date of Submission01-Apr-2020
Date of Decision04-May-2020
Date of Acceptance21-Jun-2020
Date of Web Publication05-Apr-2021

Correspondence Address:
Dr. Pankaj Jariwala
Department of Cardiology, Yashoda Hospitals, Somajiguda, Raj Bhavan Road, Hyderabad - 500 082, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiae.jiae_14_20

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  Abstract 

A young girl was evaluated for the recent onset of dyspnea. She was found to have an intermediate or Type III communication between the left ventricle and the right atrium (a unusual form of Gerbode defect) associated with an atrial septal defect (ASD) on the echocardiography. The combination of the intermediate form of the Gerbode defect with an ASD is rare and not documented in the literature.

Keywords: Atrial septal defect, echocardiography, Gerbode defect, left ventricular to right atrial communication


How to cite this article:
Jariwala P, Jadhav K, Reddy MA. Intermediate Type of Gerbode Defect Associated with Atrial Septal Defect: An Extremely Rare Anomaly. J Indian Acad Echocardiogr Cardiovasc Imaging 2021;5:43-6

How to cite this URL:
Jariwala P, Jadhav K, Reddy MA. Intermediate Type of Gerbode Defect Associated with Atrial Septal Defect: An Extremely Rare Anomaly. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2021 [cited 2021 Jul 23];5:43-6. Available from: https://www.jiaecho.org/text.asp?2021/5/1/43/313085


  Introduction Top


In 1838, Thurman first identified the communication between the left ventricle and the right atrium and subsequently the successful surgical repair by Gerbode of five cases.[1],[2] A diagnosis of the Gerbode defect is always a diagnosis of exclusion, and usually these patients need careful echocardiographic evaluation to differentiate from the common condition such as perimembranous ventricular septal defect (PM-VSD) with pulmonary hypertension.

We describe a very rare case of intermediate or Type III Gerbode defect, in combination with an atrial septal defect (ASD).


  Case Report Top


A 15-year-old girl was admitted due to New York Heart Association class II exertional dyspnea. Her clinical history included an early childhood diagnosis of PM-VSD for recurrent respiratory tract infections, which improved over time. On examination, there were prominent cardiac pulsations in the left parasternal region with systolic thrill and a Levine grade 4/6 pansystolic murmur, and a mid-diastolic rumble at the cardiac apex was heard with radiation to the back with no respiratory variability.

Echocardiography initially confirmed the presence of a PM-VSD. A meticulous color Doppler flow mapping demonstrated a high-velocity flow in the right atrium (RA) (5.04 m/s; 101.9 mm Hg) across the tricuspid valve [Figure 1]a,[Figure 1]b,[Figure 1]c and [Figure 2]d] [Video 1]. However, a diagnosis of the indirect or infra-valvular form of Gerbode defect was made as careful observation revealed that the jet was not coming from the central tricuspid orifice but through a defect in the septal tricuspid leaflet, which directed obliquely downward. There was a concurrent slightly upward directed medium velocity jet (3.24 m/s; 42 mmHg) from the left ventricle (LV), which also entered directly into the RA, in the apical four-chamber view with slight posterior tilt of probe, which confirmed the presence of direct or supravalvular type of Gerbode defect [Figure 1]d [Video 2]. We could delineate two separate jets from LV to RA with different directions and velocities across the defect in atrioventricular septum. The echocardiogram also revealed a mild enlargement of the RA and pulmonary artery with increased turbulent flow secondary to >2:1 left-to-right shunt [Figure 2]a. In addition, there was small ostium secundum-ASD with small left-to-right shunt [Figure 2]b and [Figure 2]c.
Figure 1: (a-d) Two-dimensional transthoracic echocardiography, apical five-chamber view showing a 4-mm defect in the atrioventricular septum where the turbulent color Doppler jet obliquely directed from the left ventricle to the right atrium (solid arrow, panel a and b). This left ventricle to right atrium high-pressure turbulent jet was through the indirect or infravalvular defect in the septal leaflet of the tricuspid valve. Further interrogation with anterior tilt of probe there were simultaneous occurrence of two ventricular septal defect jets into the right ventricle (dashed arrow) and jet into right atrium (solid arrow) (panel c). On further evaluation, a medium-velocity jet directed upward below the tricuspid valve from the left ventricle which entered directly into right atrium through direct or supravalvular defect (dashed arrow, panel d)

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Figure 2: (a-d) Color flow mapping across the pulmonary artery revealed high turbulence flow suggestive of >2:1 left-to-right shunt (panel a). Subcostal view showing small ostium secundum type of atrial septal defect (3.8 mm) across the interatrial septum (asterisk, panel b). Color flow mapping in four-chamber view across the interatrial septum showing left-to-right shunt across the atrial septal defect (white dashed arrow, panel c). Continuous wave Doppler interrogation of the left ventricle to right atrium jet demonstrated 5.04 m/s of high-velocity jet (101.9 mmHg, panel d)

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Video 1: Two-dimensional transthoracic echocardiography and colour flow mapping in apical five-chamber view showing ventricular septal defect with two turbulent jets directed from the left ventricle to the right atrium. The first left ventricle to right atrium high pressure jet was through the indirect or infravalvular defect in the septal leaflet of the tricuspid valve.

[Additional file 1]

Video 2: Two-dimensional transthoracic echocardiography and colour flow mapping in apical five-chamber view showing ventricular septal defect with two turbulent jets directed from the left ventricle to the right atrium. A second medium velocity jet from the left ventricle to right atrium which entered ultimately into right atrium through direct or supravalvular defect.

[Additional file 2]

She was subjected to cardiac catheterization due to the concern of the pulmonary hypertension, which showed 42/12 mmHg of pulmonary artery pressure. An analysis of oximetry data revealed a pulmonary to systemic flow of 2.3:1.

Careful Doppler interrogation and echocardiographic image acquisitions using multiple views and catheterization data helped to differentiate it from PM-VSD with tricuspid regurgitation, endocardial cushion defect, or ruptured sinus of Valsalva. High-velocity jet in the RA could be secondary to tricuspid regurgitation and severe pulmonary arterial hypertension, but the presence of two separate jets, RA dilatation, lack of right ventricle (RV) hypertrophy, and shunting predominantly in systole and normal pulmonary diastolic pressure indicate the presence of double LV to RA shunt.

Thus, a definitive diagnosis of the intermediate (Type 3) Gerbode defect with small ASD with combined >2:1 left-to-right shunt was made. She was advised for a definitive intracardiac repair.


  Discussion Top


A VSD between the LV and the RA is classified as the Gerbode defect. Frank Gerbode was the first surgeon to publish a case series of five patients, who underwent surgery in 1958.[2] It is an unusual condition that accounts for <1% of congenital heart defects.[3]

Based on their anatomical relation to the tricuspid valve, Riemenschneider and Moss classified LV–RA communications.[4] The infravalvular or indirect defects (Type I), which account for the 2/3rd of the cases, produce a connection between both the ventricles due to defect in membranous ventricular septum where the shunted blood which enters the right ventricle is redirected to the RA by the various defects in the septal leaflet of the tricuspid valve. All such defects such as perforations, malformation of chordae tendineae, cleft, or widening of commissure contribute to subclassification into multiple variants. Further, these defects are classified based on their location below the septal leaflet into three subtypes. The anterior defects are located in the membranous septum, while the involvement of adjoining muscular septum categorizes it into central subtype. The isolated type is also called atrio-ventricular communis type which has associated defects in tricuspid valve described earlier.[5] Certain defects originate from a spontaneous closure of membranous VSDs with formation of an aneurysmal pouch or transformation secondary to structural modifications of tricuspid valve tissues.[6] This mechanism causes adhesions of the septal and/or anterior tricuspid leaflet and adjacent VSD tissue that constitutes secondary LV to RA shunts. This can lead to the formation of a double sac if tissues spanning between the septal and anterior tricuspid leaflets are involved as in 85%, while single sac is formed if only the septal leaflet is involved as in 15%.[7]

The supravalvular or direct defect (Type II) occurring due to a deficiency in the atrioventricular septum contributes to 1/3rd of the cases.[8] The combination of the above two forms is known as an intermediate defect (Type III). Sakakibara and Konno added Type III or intermediate defect which is a very rare form, and the literature has recorded only few cases.[9],[10] Our case is a congenital Gerbode defect that is rare, but the acquired Gerbode defects have increasingly been reported. They could be iatrogenic secondary to cardiac surgery such as aortic and mitral valve replacements, tricuspid annuloplasty, and percutaneous interventions such as endomyocardial biopsy atrioventricular node ablation, and in recent times, trans-aortic valve replacement.[5],[11] The acquired noniatrogenic causes include infective endocarditis, myocardial infarction, and blunt chest trauma.[12] [Figure 3] outlines the various types and subtypes of Gerbode defects as mentioned above.
Figure 3: Classification of Gerbode defect into various types and subtypes based on etiopathogenesis, location, and defects in tricuspid septal leaflets. AO: Aorta, ASD: Atrial septal defect, IAS: Interatrial septum, LA: Left atrium, LV: Left ventricle, PA: Pulmonary artery, RA: Right atrium, RV: Right ventricle, VSD: Ventricular septal defect

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Vallakati et al. diagnosed a case of Gerbode defect using trans-thoracic echocardiography[13] like our case, but in older children and adults, the rib cage and lung tissues could obscure the proper visualization of the defect. Hence, one should resort to other imaging modalities such as two-dimensional (2D) transesophageal echocardiography (TEE), real-time (RT) three-dimensional (3D) echocardiography, and cardiac magnetic resonance (CMR).[14] Though 2D TEE helps to confirm the anatomical diagnosis in ambiguity, the relationship of defect with other adjacent structures may not be properly defined to subcategorize them, particularly in infravalvular and intermediate types of Gerbode defects.[5]

RT 3D TEE not only accurately delineates anatomical defects, but also their morphological feature such as exact location, shape, and size that could assist in percutaneous catheter-based closure using device.[11],[15] In addition to anatomical analysis using cine CMR which precisely locates the defect in membranous septum with origin of jet directed into the RA, phase-contrast CMR estimates accurately the shunt volume and fraction, as well as the associated impact on right heart function. This knowledge has therapeutic implications to specify the surgical or percutaneous technique for closing the defect.[5],[14],[16]

A high index of suspicion and wider availability of various newer imaging techniques will add further cases of Gerbode defect, once thought to be a rare congenital heart disease.


  Conclusion Top


This uncommon type of ventriculo-atrial septal defect may be suspected while performing an echocardiogram, when there is an excessively dilated RA, and when high-velocity flows are lacking in the RV (mainly in the inflow tract) in the presence of a VSD. Furthermore, it is essential that due consideration must be given during the echocardiographic analysis of patients with a history of perimembranous VSD to identify the Gerbode type defect as a cause of the high-velocity jet in the RA mimicking pulmonary arterial hypertension.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kretzer A, Amhaz H, Nicoara A, Kendall M, Glower D, Jones MM. A case of Gerbode ventricular septal defect endocarditis. CASE (Phila) 2018;2:207-9.  Back to cited text no. 1
    
2.
Gerbode F, Hultgren H, Melrose D, Osborn J. Syndrome of left ventricular-right atrial shunt; successful surgical repair of defect in five cases, with observation of bradycardia on closure. Ann Surg 1958;148:433-46.  Back to cited text no. 2
    
3.
Kelle AM, Young L, Kaushal S, Duffy CE, Anderson RH, Backer CL. The Gerbode defect: The significance of a left ventricular to right atrial shunt. Cardiol Young 2009;19 Suppl 2:96-9.  Back to cited text no. 3
    
4.
Riemenschneider TA Moss AJ. Left ventricular-right atrial communication. Am J Cardiol 1967;19:710-8.  Back to cited text no. 4
    
5.
Saker E, Bahri GN, Montalbano MJ, Johal J, Graham RA, Tardieu GG, et al. Gerbode defect: A comprehensive review of its history, anatomy, embryology, pathophysiology, diagnosis, and treatment. J Saudi Heart Assoc 2017;29:283-92.  Back to cited text no. 5
    
6.
Panduranga P, Mukhaini M. A rare type of Gerbode defect. Echocardiography 2011;28:E118-20.  Back to cited text no. 6
    
7.
Wu MH, Wang JK, Lin MT, Wu ET, Lu FL, Chiu SN, et al. Ventricular septal defect with secondary left ventricular-to-right atrial shunt is associated with a higher risk for infective endocarditis and a lower late chance of closure. Pediatrics 2006;117:e262-7.  Back to cited text no. 7
    
8.
Silbiger JJ, Kamran M, Handwerker S, Kumar N, Marcali M. The Gerbode defect: Left ventricular to right atrial communication-anatomic, hemodynamic, and echocardiographic features. Echocardiography 2009;26:993-8.  Back to cited text no. 8
    
9.
Ganju N, Sondhi S, Kandoria A, Mehta A. Intermediate type of Gerbode defect: Rare type of the left to right shunt. BMJ Case Rep 2018;11:10-2.  Back to cited text no. 9
    
10.
Sakakibara S, Konno S. Congenital aneurysm of the sinus of Valsalva. Anatomy and classification. Am Heart J 1962;63:405-24.  Back to cited text no. 10
    
11.
Al Sergani H, Galzerano D, Vriz O, Al Buraiki J. Three-dimensional echocardiographic imaging of a Gerbode defect complicating transcatheter aortic valve replacement. Cardiovasc Echogr 2019;29:14.  Back to cited text no. 11
    
12.
Sinisalo JP, Sreeram N, Jokinen E, Qureshi SA. Acquired left ventricular-right atrium shunts. Europ J Cardio Thoracic Surg 2011;39:500-6.  Back to cited text no. 12
    
13.
Vallakati A, Nerella N, Lodha A, Sadiq A, Shani J. Unusual presentation of Gerbode defect. Tex Heart Inst J 2012;39:446-7.  Back to cited text no. 13
    
14.
Mousavi N, Shook DC, Kilcullen N, Aranki S, Kwong RY, Landzberg MJ, et al. Multimodality imaging of a Gerbode defect. Circulation 2012;126:e1-2.  Back to cited text no. 14
    
15.
Tarentino AL, Maley F. A comparison of the substrate specificities of endo-beta-N-acetylglucosaminidases from Streptomyces griseus and Diplococcus pneumoniae. Biochem Biophys Res Commun 1975;67:455-62.  Back to cited text no. 15
    
16.
Cheema OM, Patel AA, Chang SM, Shah DJ. Gerbode ventricular septal defect diagnosed at cardiac MR imaging: Case report. Radiology 2009;252:50-2.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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