Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination

Rakesh Jain; Kader Muneer; Priyanka Jain; Sajeev Chakanalil Govindan

doi:10.4103/2321-449X.178120

CASE REPORT

Year : 2016 | Volume : 4 | Issue : 1 | Page : 26-28

Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination

Rakesh Jain¹, Kader Muneer¹, Priyanka Jain², Sajeev Chakanalil Govindan¹
¹ Department of Cardiology, Government Medical College, Kozhikode, India
² Department of Pediatrics, Medical College, IMCH, Calicut, Kerala, India

Date of Web Publication

4-Mar-2016

Correspondence Address:
Rakesh Jain
Department of Cardiology, Government Medical College, Kozhikode - 673 008, Kerala
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/2321-449X.178120

Abstract

A 15-year-old boy was evaluated for the new onset of dyspnea. He had no significant medical or surgical history. On echocardiography, he was found to have a direct communication between the left ventricle and the right atrium through the atrioventricular (AV) septum (a rare type of Gerbode defect) with an associated cleft in the anterior mitral leaflet. The combination of direct type Gerbode defect with the cleft of the anterior mitral leaflet is extremely rare.

Keywords: Atrioventricular (AV) septum, cleft mitral valve, Gerbode defect, mitral regurgitation

How to cite this article:
Jain R, Muneer K, Jain P, Govindan SC. Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination. Heart India 2016;4:26-8

How to cite this URL:
Jain R, Muneer K, Jain P, Govindan SC. Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination. Heart India [serial online] 2016 [cited 2023 Mar 22];4:26-8. Available from: https://www.heartindia.net/text.asp?2016/4/1/26/178120

Introduction

The Gerbode defect, a left ventricle to right atrial communication, is a very rare cardiac defect. Cleft in the anterior mitral leaflet is a rare defect as well. The combination of these two has rarely been reported in literature. The unique feature of this case is the association of congenital direct type Gerbode defect with cleft in mitral valve.

Case Report

A 15-year-old male patient attended the outpatient department with the complaint of dyspnea on exertion, New York Heart Association (NYHA) class, II for the last 5-6 months. He had no significant medical or cardiac history. His blood pressure and pulse rate were within normal limits. Cardiac auscultation revealed a grade 4/6 (Levine scale) high frequency pansystolic murmur over the cardiac apex conducting to the left axilla as well as to the base of the heart. Hematological and biochemical evaluation including 12-lead electrocardiogram were within normal limits. Chest x-ray showed mild cardiomegaly. Two-dimensional (2D) transthoracic echocardiography with color Doppler imaging showed a 3.36 mm defect in the atrioventricular (AV) part of membranous septum with left to right shunting directly from the left ventricle to the right atrium with a gradient of 120 mmHg [Figure 1]a and [Figure 1]c. There was an associated cleft in the anterior mitral leaflet at a 12 o'clock position causing moderate mitral valve regurgitation with eccentric regurgitation jet hugging the posterior wall of the left atrium [Figure 2]a and [Figure 2]b. AV valves were normally placed. There was no evidence of abnormal chordae. The left ventricular outflow tract (LVOT) was normal. Transesophageal echocardiography confirmed the diagnosis of direct type Gerbode defect with cleft in the anterior mitral leaflet causing moderate mitral regurgitation [Figure 1]b and [Figure 2]c and Video 1]. So, we are reporting this extremely rare case of direct type Gerbode defect with cleft in the anterior mitral leaflet causing moderate mitral regurgitation.

Figure 1: (a) 2D transthoracic echocardiography, apical four-chamber view showing a 3.36 mm defect in the atrioventricular septum; direct type Gerbode defect, (see arrow) connecting left ventricle to the right atrium (b) Transesophageal echocardiography, modified four-chamber showing defect; a direct communication between the left ventricle to the right atrium (see arrow) (c) Transthoracic color Doppler echocardiography showing a four-chamber view of Gerbode defect where the turbulent color Doppler jet directed from the left ventricle to the right atrium (see arrow)

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Figure 2: (a) 2D transthoracic echocardiography, parasternal short axis view showing cleft in the anterior mitral leaflet at a 12 o'clock position (see arrow) (b) Transthoracic color Doppler echocardiography, short axis view showing mitral regurgitation jet through the cleft in the anterior mitral valve (c) Transesophageal color Doppler echocardiography, modified four-chamber view showing a turbulent jet from the left ventricle to the right atrium through the atrioventricular septum (see arrow) and another turbulent jet of mitral regurgitation

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Discussion

The Gerbode defect, a left ventricle to right atrial communication, is a very rare cardiac defect.^[1] Riemenschneider and Moss classified the Gerbode defect into two types. The type I defect (direct) results in a direct shunt through the AV part of the membranous septum, while a type II (indirect) defect that is more common, results in an indirect shunt through a perimembranous ventricular septal defect and a defect in the septal tricuspid valve leaflet.^[2] The type I defect is usually secondary to infective endocarditis, blunt cardiac trauma, myocardial infarction, and valve surgery.^[3],[4],[5] The present case is a type I Gerbode defect of congenital origin as there was no significant medical or surgical history, ruling out its acquired nature. There is an associated cleft in the anterior mitral leaflet at a 12 o'clock position, causing moderate mitral regurgitation [Figure 1]b,[Figure 1]c and Video 2]. Cleft in the anterior mitral leaflet, which is a rare defect as well, is commonly associated with endocardial cushion defect; in that case, the cleft is frequently present at a 9 o'clock position facing the interventricular septum. The unique feature of this case is the association of congenital direct type Gerbode defect with cleft in mitral valve. Though unclear, it is suspected to have a common embryological association.^[6] Though 2D echocardiography with Doppler interrogation is usually sufficient in making the diagnosis of cleft in mitral valve, the main role of three-dimensional (3D) echocardiography is during reconstruction surgeries because 3D echocardiography allows the display of the nonplanar geometry of the valve leaflets and annulus, as well as the complex subvalvular apparatus, and its spatial relationships with the surrounding structures. Similarly, it is useful during the reconstruction of the Gerbode defect.^[7] Direct suturing of the cleft surgically is the preferred treatment, but glutaraldehyde-treated autologous pericardium can be used if there is a lack of valvular tissue along with patch closure of the Gerbode defect, which is required in almost all cases. Though surgical closure remains the preferred choice, increased availability and application of transcatheter interventional techniques have made it possible to definitively treat congenital or acquired intracardiac shunts including Gerbode defect and offer a great advantage, especially in patients who are at a high mortality risk from surgery.^[8] The present patient underwent direct surgical closure successfully and is doing well on follow-up.

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Conflicts of interest

There are no conflicts of interest.

References

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