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INTERESTING CASE REPORT
Ahead of print publication  

Role of Imaging in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy in Presence of Congenital Heart Disease


1 Department of Pediatric Cardiology, Medica Super Specialty Hospital, Kolkata, West Bengal, India
2 Apollo Gleneagles Heart Centre, Kolkata, West Bengal, India
3 Department of Cardiology, Medica Super Specialty Hospital, Kolkata, West Bengal, India

Date of Submission24-Dec-2020
Date of Acceptance01-Feb-2021
Date of Web Publication06-Jul-2021

Correspondence Address:
Anil Kumar Singhi,
Senior Consultant Pediatric Cardiologist, Medica Super Speciality Hospital, Mukundapur, Kolkata - 700 099, West Bengal
India

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiae.jiae_82_20

  Abstract 

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an underdiagnosed entity manifesting with arrhythmia, heart failure and sometimes with sudden cardiac death. Rarely, congenital heart disease (CHD) can co-exist with ARVC which creates a diagnostic challenge. The presence of ARVC in a known case of CHD changes the management plan. We describe three patients with CHD having additional features of ARVC based on proposed criteria in the last 5 years in our institution. The mean age of the patients was 43 years. Two patients had atrial septal defect and one had Ebsteins's anomaly. Cardiac magnetic resonance imaging was done in two patients which showed characteristic features of ARVC and fulfilled the criteria of diagnosis. One patient was labeled as probable ARVC. Medical therapy helped the patients with symptoms of arrhythmia and heart failure. On short-term follow-up, they were doing well. Diagnosis of ARVC in a known case of CHD requires a high index of suspicion. The proposed imaging criteria and holistic approach may help with early diagnosis and appropriate management.

Keywords: Arrhythmogenic right ventricular cardiomyopathy, cardiac magnetic resonance imaging, congenital heart disease, echocardiogram



How to cite this URL:
Singhi AK, Bhargava A, Mukherjee SS, Mohapatra SK, Chakraborty R. Role of Imaging in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy in Presence of Congenital Heart Disease. J Indian Acad Echocardiogr Cardiovasc Imaging [Epub ahead of print] [cited 2021 Oct 24]. Available from: https://www.jiaecho.org/preprintarticle.asp?id=320784


  Introduction Top


Arrhythmogenic right ventricular cardiomyopathy (ARVC) is seen with the prevalence of 1 in 2000–1 in 5000 of the general population.[1] It causes progressive right ventricular (RV) dilatation, dysfunction, and arrhythmia. It can cause sudden cardiac death in young and thus early diagnosis is vital. Sometimes, ARVC can be associated with congenital heart disease (CHD). Some heart diseases like atrial septal defect (ASD), Ebstein's anomaly can mimic ARVC.[2] In such cases, the overlap between clinical picture and anatomical changes makes the diagnosis of ARVC particularly challenging. It is very important to pick up the diagnosis of ARVC in an existing CHD background as the treatment protocol changes significantly, and the CHD may not require intervention immediately. During our evaluation of such patients, we found that there were imaging features which could help diagnose the presence of ARVC in a patient with existing CHD [Table 1]. We describe three such patients where we found features suggestive of ARVC in a diagnosed case of CHD.
Table 1: Proposed criteria for suspicion of arrhythmogenic right ventricular cardiomyopathy with the background of Congenital heart disease

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  Patient Details Top


Between July 2015 and September 2020, there were three patients with CHD where the possibility of ARVC was suspected. Detailed history and clinical evaluation including noninvasive imaging and electrocardiogram (ECG) assessment of all patients was done. Based on the proposed criteria [Table 1], transthoracic echocardiogram (TTE) was the key initial imaging to suspect the presence of ARVC in the background of CHD, followed by transesophageal echocardiogram (TEE). Cardiac magnetic resonance (CMR) imaging with gadolinium contrast was advised in all the cases. The clinical findings and relevant investigations of all three patients are discussed to maintain continuity and better understanding. The mean age of the patients was 43 years. Two of them were referred for ASD device closure whereas the third one was referred as a case of Ebstein's anomaly. Two patients had a history of episodic palpitations accompanied by electrocardiogram (ECG) changes as described in the modified ARVC diagnostic criteria (2010) [Annexure A]. The detailed clinical evaluation and advanced level imaging confirmed the presence of ARVC in two cases and the third one was labeled as probable ARVC [Table 2].

Table 2: Characteristics of the patients

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The first patient was referred as a case of Ebstein's anomaly of the tricuspid valve. The patient was found to have significant dysplastic Ebsteinoid tricuspid valve with severe regurgitation. The septal tricuspid leaflet was minimally displaced apically. The posterior tricuspid leaflet was displaced apically but there was no sail-like appearance of the anterior tricuspid leaflet. The RV outflow was aneurysmally dilated which was not accompanied by dilatation of the pulmonary tree [Figure 1] and [Video 1]. Contrast-enhanced CMR showed fibro fatty changes characteristic of ARVC. There was reduced RV function as assessed by CMR [Figure 2]. The second case was significantly symptomatic with frequent episodes of palpitation and effort intolerance. She was referred for device closure of secundum ASD. On evaluation, she was found to have small ASD with disproportionate dilatation of RV outflow tract (RVOT). She was satisfying the echocardiographic criteria for ARVC. Detailed TEE confirmed the findings in favor of ARVC [Figure 3] and [Video 2]. CMR showed aneurysmal dilatation and sacculations of RVOT along with reduced RV function. The fibrofatty changes of RV myocardium supported a diagnosis of ARVC [Figure 4]. The third lady was relatively asymptomatic and was referred for ASD device closure. Transthoracic and transesophageal echocardiography pointed toward the presence of ARVC. There was moderate-sized ASD with disproportionate RV and RVOT dilatation which was not followed by pulmonary artery changes. Three-dimensional TEE confirmed an aneurysmal RVOT [Figure 5], [Figure 6] and [Video 3], [Video 4]. She was advised for CMR for delineation of anatomy. In view of asymptomatic status, she wished to get it done electively during follow-up. Two of the patients had a history of recurrent episodic palpitations suggestive of ventricular arrhythmia, though we were not able to document that by ECG or Holter. Both of the symptomatic patients (patient number 1 and 2) with palpitations and effort intolerance were treated with a diuretic and beta-blocker. The symptom class and functional status significantly improved on medical management.
Figure 1: Transthoracic and transesophageal echocardiogram of the first patient showing (a and e) undisplaced septal tricuspid leaflet (white arrow), with severe tricuspid regurgitation. The posterior tricuspid leaflet was significantly displaced (b and f) (Yellow arrow). The right ventricular outflow tract was aneurysmally dilated (c, d and g) (marked with*) sparing the main pulmonary artery (d). [Video 1 shows the same patient]

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Figure 2: Cardiac magnetic resonance imaging in the first patient showing (a) septal tricuspid leaflet in usual location (arrow), (b) sacculations in the anterior free wall of right ventricle (arrow), (c and f) right ventricular anterior wall patchy hyperenhancement seen in delayed contrast enhanced study, (d) fibrofatty infiltration in the right ventricle free wall marked with an arrow, and (e) fat suppressed image for comparison

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Figure 3: Transthoracic echocardiogram of the second patient. (a) Subcostal view showing small atrial septal defect which is confirmed in transesophageal echocardiogram (b). (c) Apical four-chamber view showing left ventricular dominance. (d-f and h) The right ventricular outflow tract is aneurysmally dilated (marked with *) while the main pulmonary artery is not proportionately dilated. The outpouching of right ventricular outflow tract (g) is seen in the parasternal short-axis view [Video 2 shows the same patient]

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Figure 4: Cardiac magnetic resonance imaging in the second patient showing (a) sacculations in the right ventricle at apex and (b) in the free wall anteriorly (arrow) and (d and e) delayed enhancement in the right ventricular anterior wall. (c and f) Fibrofatty infiltration of the right ventricle and outflow tract (arrow)

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Figure 5: Transthoracic echocardiogram of the third patient. (a) Apical four- chamber view showing mild right ventricle dilatation. The trabeculation of the right ventricle apex marked with a yellow arrow. (b and c) Subcostal view showing moderate atrial septal defect, left to right shunt. (d-f) The right ventricle outflow tract aneurysmally dilated (marked with *) while the main pulmonary artery is not proportionately dilated (f) [Video 3 shows the same patient]

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Figure 6: Transesophageal echocardiogram of the third patient. (a) Apical four-chamber view showing mild right ventricular dilatation. Short-axis view (b and c) showing small atrial septal defect with left to right shunt (white arrow). (e and f) The right ventricular outflow tract (RVOT) aneurysmally dilated (*) while the pulmonary artery is not proportionately dilated (e). Three-dimensional (3D) echocardiogram in enface view of atrial septum (d) showing the secundum ASD. Apical four-chamber view (g) showing dilatation and trabeculation in the right ventricle apical region. (h) The RVOT in 3D echocardiogram showing aneurysmal dilatation (red arrow) [Video 4 shows the same patient]

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[Additional file 1]

Video 1: Transthoracic and transesophageal echocardiogram of the first patient showing (a, e) septal tricuspid leaflet not displaced and severe tricuspid regurgitation. The posterior tricuspid leaflet is significantly displaced (b, f). The right ventricular outflow tract is aneurysmally dilated (c, d, g) but sparing the main pulmonary artery (d).

[Additional file 2]

Video 2: Transthoracic echocardiogram of the second patient (a) Subcostal view showing small atrial septal defect which is confirmed in transesophageal echocardiogram (b). (c) Apical four-chamber view showing left ventricular dominance. (d, e, f, h) The right ventricular outflow tract is aneurysmally dilated while the main pulmonary artery is not proportionately dilated. The outpouching of the right ventricular outflow tract (g) is seen in the parasternal short axis view.

[Additional file 3]

Video 3: Transthoracic echocardiogram of the third patient. (a) Apical four-chamber view showing mild right ventricle dilatation and trabeculation of the right ventricle apex. (b) Subcostal view showing moderate atrial septal defect, left to right shunt. (c, d, e, f) The right ventricle outflow tract aneurysmally dilated while the main pulmonary artery is not proportionately dilated.

[Additional file 4]

Video 4: Transesophageal echocardiogram of the third patient. (a) Apical four-chamber view showing mild right ventricular dilatation. Short axis view (b, c) showing small atrial septal defect with left to right shunt. (e, f) The right ventricular outflow tract (RVOT) aneurysmally dilated while the pulmonary artery is not proportionately dilated (e). Three-dimensional (3D) echocardiogram in enface view of atrial septum (d) showing the secundum ASD. Apical four-chamber view (g) showing dilatation and trabeculation in the right ventricle apical region. (h) The RVOT in 3D echocardiogram showing aneurysmal dilatation.


  Discussion Top


ARVC is an inherited slowly progressive cardiomyopathy resulting in fibrofatty infiltration of the ventricular myocardium. It causes RV dilatation and dysfunction, resulting in syncope, recurrent ventricular tachycardia, heart failure, and sometimes sudden cardiac death.[3] The natural history of classical ARVC has multiple clinical phases. The occult phase is when the patient remains asymptomatic and may or may not have discrete structural abnormalities in the RV. In the arrhythmic phase, the patient experiences palpitations, syncope and symptomatic ventricular arrhythmias originating in the RV. The RV failure phase is marked by impairment of RV function due to progressive replacement of myocardium with fibro-fatty tissue. In the final biventricular failure stage, congestive heart failure is seen along with mural thrombus, aneurysm, and atrial fibrillation.[4] The importance of this clinical staging system is to understand the varied clinical manifestations and different features at various stages of the disease in any given patient with ARVC.

The diagnosis of ARVC is based on the 2010 Revised Task Force criteria.[5] In spite of the detailed criteria, the diagnosis is often challenging, especially in patients who are in the early stage of disease.[6] Physical examination can be normal in 50% of the cases.[3] The diagnosis is particularly challenging in certain CHDs such as ASD and tricuspid valve pathologies which may result in right heart dilatation and arrhythmias which makes it difficult to pick up co-existing ARVC.[7] Right heart involvement in CHD will mask involvement of the RV muscle with another pathology like ARVC. The simultaneous presence of ARVC and CHD requires very detailed clinical evaluation and imaging of the heart. Associated family history of arrhythmia and sudden cardiac death can give an important clue towards the diagnosis.[7],[8],[9],[10]

During echocardiography (TTE/TEE), disproportionate dilatation of the RV and aneurysmal dilatation of the RVOT are helpful in suspecting the presence of ARVC in CHD. Additionally, the presence of trabeculations at the RV apex and pulmonary artery not following the dilatation of the RVOT was found to be very useful in picking up these cases. Our proposed imaging criteria will guide to suspect ARVC in CHD patients. Three-dimensional TEE can be helpful in delineating the RV abnormality which can supplement the two-dimensional data. In our series of three CHD patients, the initial suspicion of ARVC was carved out of minute details that were registered on TTE and TEE. This was eventually confirmed on CMR in two patients.

CMR imaging is considered an ideal imaging modality for the evaluation of ARVC. It provides comprehensive assessment of myocardial tissue characteristics and myocardial function, along with detailed anatomic assessment.[11] CMR features which are considered diagnostic for ARVC are RV dilatation, focal aneurysm, regional wall motion abnormality along with RV systolic and diastolic dysfunction. The myocardial tissue delineation reveals fatty infiltration, focal fibrosis, reduction of RV wall thickness, and wall hypertrophy. The corrugated pattern of the RV wall known as “accordion sign” is considered characteristic in ARVC.[3],[10] RV ejection fraction <40% with end-diastolic volume >110 ml/m2 and RV end-systolic volume >100 ml/m2 of body surface area are considered important CMR features for ARVC.[4],[12]

The importance of early ARVC diagnosis in the presence of CHD is essential as treatment options are totally different. The advantage is twofold. Firstly, it avoids unwarranted intervention which will not ameliorate symptoms. Secondly, this helps to institute proper medical therapy which significantly controls symptoms and improves the clinical status of the patient and also allows an opportunity to do family screening. The patients reported here were explained in detail about the nature of the disease, need of continuous monitoring and possible future requirement of implantable cardioverter defibrillator for prolonging life.


  Conclusion Top


CHD can rarely coexist with ARVC. In lesions like ASD and tricuspid valve anomalies, right heart dilatation, dysfunction and arrhythmia are common which makes the diagnosis of coexistent ARVC very difficult. High index of suspicion is required with special attention to disproportionate dilatation of the right heart chambers along with aneurysmal dilatation and sacculations of the RVOT and RV apex. CMR confirms the presence of fibrofatty tissue in the myocardium along with trabeculations, sacculations, and cardiac dysfunction. A detailed evaluation and coordinated team approach are essential for long-term management. Further detailed prospective evaluation with more number of patients could shed more light on this rare entity.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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Corrado D, van Tintelen PJ, McKenna WJ, Hauer RN, Anastastakis A, Asimaki A, et al. Arrhythmogenic right ventricular cardiomyopathy: Evaluation of the current diagnostic criteria and differential diagnosis. Eur Heart J 2020;41:1414-29.  Back to cited text no. 2
    
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Murphy DT, Shine SC, Cradock A, Galvin JM, Keelan ET, Murray JG. Cardiac MRI in arrhythmogenic right ventricular cardiomyopathy. Am J Roentgenol 2010;194:W299-306.  Back to cited text no. 3
    
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Elias Neto J, Tonet J, Frank R, Fontaine G. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) – What we have learned after 40 years of the diagnosis of this clinical entity. Arq Bras Cardiol 2019;112:91-103.  Back to cited text no. 4
    
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Corrado D, Link MS, Calkins H. Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2017;376:61-72.  Back to cited text no. 6
    
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Kiamanesh O, Farhan M, Sanatani S, Grosse-Wortmann L, Duncan W, Hamilton RM. Congenital heart disease confounding the diagnosis of arrhythmogenic right ventricular cardiomyopathy. HeartRhythm Case Rep 2016;2:290-5.  Back to cited text no. 7
    
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Yoshida A, Suzuki A, Kawada E, Tobita T, Serizawa N, Suzuki T, et al. A case of desmoplakin mutation and delayed arrhythmogenic right ventricular cardiomyopathy/dysplasia after atrial septal defect closure. J Cardiol Cases 2019;19:111-4.  Back to cited text no. 8
    
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Wang H, Ding H, Lei L, Zhang X, Gong Y, Hou Y. Transcatheter closure of atrial septal defect associated with arrhythmogenic right ventricular cardiomyopathy: A case report and literature review. Cardiol Young 2015;25:403-7.  Back to cited text no. 9
    
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Ren C, Fang Z, Zhao Y, Luo J. Congenital heart disease combined with Arrhythmogenic Right Ventricular Cardiomyopathy: A CARE compliant case report and literature review. Medicine (Baltimore) 2020;99:e20279.  Back to cited text no. 10
    
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Te Riele AS, Tandri H, Bluemke DA. Arrhythmogenic right ventricular cardiomyopathy (ARVC): Cardiovascular magnetic resonance update. J Cardiovasc Magn Reson 2014;16:50.  Back to cited text no. 11
    
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1], [Table 2]



 

 
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