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 Table of Contents  
INTERESTING CASE REPORT
Year : 2022  |  Volume : 6  |  Issue : 2  |  Page : 158-161

Interesting Arrhythmogenic Right Ventricular Cardiomyopathy: A Diagnosis beyond Criteria?


1 Department of Cardiology, St. John's Medical College, Bengaluru, Karnataka, India
2 Department of Radiology, St. John's Medical College, Bengaluru, Karnataka, India

Date of Submission24-Feb-2022
Date of Decision04-Apr-2022
Date of Acceptance07-Apr-2022
Date of Web Publication29-Jul-2022

Correspondence Address:
Dr. Srilakshmi M Adhyapak
Department of Cardiology, St. John's Medical College Hospital, Bengaluru - 560 034, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiae.jiae_14_22

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  Abstract 

A normotensive, euglycemic 24-year-old male presented with presyncope. There was no history of similar episodes or loss of consciousness. No similar family history was noted. General clinical and cardiovascular examination was unremarkable. Electrocardiogram done showed wide complex tachycardia with a left bundle branch block morphology suggestive of ventricular tachycardia. The tachycardia spontaneously reverted to normal sinus rhythm. The patient subsequently had sinus bradycardia with a heart rate of 58/min and demonstrated an epsilon wave in the inferior and right-sided chest leads. His cardiac magnetic resonance imaging showed a dilated right atrium and ventricle with no fibrofatty infiltration. This patient did not fulfil the criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) according to the 2020 criteria. He qualified for suspected ARVC. However, according to the Heart Rhythm Society guidelines of 2019, he qualified as ARVC as he met two major criteria. We report this case as we feel that the criteria for diagnosis of ARVC may not warrant strict adherence. A strong clinical suspicion is required in addition for diagnosis.

Keywords: Arrhythmogenic right ventricular cardiomyopathy, right ventricle, ventricular tachycardia


How to cite this article:
Adhyapak SM, Gupta A, Shaikh JU, Kramadhari H, Varghese K. Interesting Arrhythmogenic Right Ventricular Cardiomyopathy: A Diagnosis beyond Criteria?. J Indian Acad Echocardiogr Cardiovasc Imaging 2022;6:158-61

How to cite this URL:
Adhyapak SM, Gupta A, Shaikh JU, Kramadhari H, Varghese K. Interesting Arrhythmogenic Right Ventricular Cardiomyopathy: A Diagnosis beyond Criteria?. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2022 [cited 2022 Oct 3];6:158-61. Available from: https://jiaecho.org/text.asp?2022/6/2/158/352988


  Introduction Top


The criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) have been modified lately in 2020.[1] These criteria rely heavily on imaging data, whereas the Heart Rhythm Society guidelines of 2019 have included electrocardiographic (ECG) criteria as well.[2] There are many gray zones in the diagnosis of ARVC. We report here a patient who did not qualify for the 2020 criteria, but qualified as ARVC according to the Heart Rhythm Society guidelines.


  Case Report Top


A normotensive, euglycemic 24-year-old male presented with complaints of presyncope following a session of high-intensity training for the police department. There was no past history of similar episodes or loss of consciousness. No similar family history was noted.

General clinical and cardiovascular examinations was unremarkable.

His jugular venous pulse was not elevated, and his cardiovascular examination did not reveal any abnormalities, with normal heart sounds and no murmurs. The other system examination was unremarkable.

ECG done showed wide complex tachycardia with a left bundle branch block (LBBB) morphology with an axis of −40° [Figure 1] suggestive of ventricular tachycardia (VT). The tachycardia spontaneously reverted to normal sinus rhythm.
Figure 1: Electrocardiogram showing wide complex tachycardia with left bundle branch block morphology

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The patient subsequently had sinus bradycardia with a heart rate of 56/min and demonstrated an epsilon wave in the inferior and right-sided chest leads [Figure 2].
Figure 2: Electrocardiogram showing sinus rhythm and epsilon wave in the inferior and right-sided chest leads

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Work-up

Routine blood tests done were within normal limits. Trop I was mildly elevated at 0.042 ng/mL (0.010–0.023), which could be due to VT.

The two-dimensional echocardiogram showed dilated right atrium and ventricle (RA/RV) with normal left ventricular (LV) function; the left ventricular ejection fraction (LVEF) was 62%, and there were no regional wall motion abnormalities. There was mild-to-moderate tricuspid regurgitation, and the tricuspid annular plane systolic excursion was 1.4 cm which indicated RV dysfunction [Figure 3], [Figure 4] and [Video 1], [Video 2].
Figure 3: Tricuspid annular plane systolic excursion on M-mode echocardiography suggestive of reduced right ventricular function

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Figure 4: Four-chamber view on two-dimensional echocardiography demonstrating a dilated right ventricle with normal left ventricle

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[Additional file 1]

Video 1: Two-dimensional echocardiography in the parastrenal long-axis view showing a dilated right ventricle.

[Additional file 2]

Video 2: Two-dimensional echocardiography showing the four-chamber view demonstrating dilated right atrium and ventricle, with mild-to-moderate tricuspid regurgitation.

Cardiac magnetic resonance (CMR) imaging done revealed dilated RA and RV with increased RV end-diastolic volume (186 ml/m2) and reduced RV ejection fraction of 35% [Video 3]. There was diffuse enhancement of RV free wall and RV outflow tract (RVOT) [Figure 5], [Figure 6] and [Video 4]. These features were consistent with ARVC.
Figure 5: Cardiac magnetic resonance images showing right atrial and right ventricular dilatation

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Figure 6: Delayed enhancement involving right ventricle and right ventricular outflow tract

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Video 3: Cardiac magnetic resonance cine images in short axis [Additional file 3](a), four-chamber [Additional file 4](b), and of right ventricular outflow tract [Additional file 5](c) showing right atrial and right ventricular dilatation.

[Additional file 6]

Video 4: Cine cardiac magnetic resonance images showing late gadolinium enhancement of the right atrium and the right ventricle.

The possibility of sarcoidosis was not likely as there was absence of LV enhancement on CMR.

The patient was planned for an intracardiac defibrillator (ICD) implantation later.


  Discussion Top


According to the 2020 International criteria,[1] our patient had one major (ECG - LBBB morphology VT) and one minor criteria (epsilon wave on the ECG). The CMR did not demonstrate fibrofatty myocardial infiltration of the RV walls on late gadolinium enhancement (LGE). The RV was globally dilated with reduced function. There were no regional RV wall motion abnormalities.

Thus, according to the 2020 criteria, our patient falls into the gray zone of “possible ARVC.” However, even though CMR did not demonstrate any regional RV involvement or fibrofatty infiltration, the diagnosis of ARVC should still be strongly suspected. The Heart Rhythm Society in 2019 listed criteria according to which our patient has two major criteria of VT and epsilon wave on resting ECG.[2] There are several similar cases in clinical practice which do not conform to specific diagnostic criteria but may still be having ARVC. We highlight this case as it does not satisfy any major imaging criteria for ARVC.

Cardiac sarcoidosis is another differential diagnosis for this condition. However, in our case, the LGE seen on CMR was localized to the RA and RV. There was no late enhancement of the LV. These features are incosistent with a diagnosis of cardiac sarcoidosis which is characterized by late enhancement mainly of the LV with patchy involvement of the RV.

The criteria for diagnosis of ARVC have undergone several changes historically.[1],[2],[3],[4],[5],[6]

When it was discovered that ARVC was caused by a genetic defect in the cardiac desmosomes, it led to its recognition as a cardiomyopathy and inclusion in the classification of cardiomyopathies by the American Heart Association. The phenotypic spectrum of the disease has progressively became broader due to the inclusion of biventricular and left-dominant disease variants, leading to the use of the designation of “arrhythmogenic cardiomyopathy (ACM).”[5]

The initial 1994 Task Force Criteria were designed with an adequate specificity for ARVC diagnosis among index cases with overt clinical manifestations. However, these criteria were largely qualitative rather than quantitative and hence were not practically applicable.[3]

According to the revised criteria of 2010, a definite diagnosis of ARVC was fulfilled by 2 major or 1 major and 2 minor criteria or 4 minor criteria from different categories; a borderline diagnosis by 1 major and 1 minor or 3 minor criteria from different categories; and a possible diagnosis by 1 major or 2 minor criteria from different categories.[4]

To optimize the diagnostic specificity of morphofunctional criteria, the 2010 criteria required the association of global RV dilatation or RV systolic dysfunction with regional wall motion abnormalities (i.e., akinesia, dyskinesia, aneurysm, or bulging). These criteria were classified as “major” or “minor” based on the severity of RV dilatation and/or systolic impairment. This modification also provided a quantitative parameter for proper grading of fibrofatty replacement of the myocardium on endomyocardial biopsy.

T-wave inversion in V1–V3 as well as VT with LBBB morphology with superior/indeterminate QRS axis, either sustained or nonsustained, became a major criterion. The following were included among the minor criteria: (1) T-wave inversion in V1 and V2 in the absence of right bundle branch block (RBBB) and from V1 to V4 in the presence of complete RBBB; (2) prolongation of right precordial QRS duration with delayed S-wave upstroke (terminal activation delay >55 ms); (3) positivity of any 1 of the 3 signal-averaged ECG parameters for late potentials; and (4) premature ventricular beat (PVBs) >500 per 24 h on Holter monitoring.

The main improvement in the 2020 International criteria was the introduction of tissue characterization findings with LGE for the detection of fibrofatty myocardial replacement of both ventricles. The best diagnostic accuracy by CMR can be achieved by combining myocardial tissue characterization with regional RV wall motion assessment. Detection of an underlying fibrofatty myocardial scar on CMR increases the diagnostic specificity of RV wall motion abnormalities.[5],[6]

In the ECG criteria, the epsilon wave has been relegated to a minor criterion. The morphology of ectopic QRS with an LBBB and superior axis pattern (indicating their origin from the inferoapical RV wall) has greater disease specificity (major ventricular arrhythmia criterion) than PVBs showing an LBBB/inferior axis morphology more consistent with idiopathic RVOT arrhythmia (minor ventricular arrhythmia criterion).

When faced with a diagnostic challenge as in our patient, we question the strict adherence to diagnostic criteria, as the criteria themselves are evolving over time. Our patient satisfied 1 major and 1 minor ECG criteria according to the 2020 recommendations. Imaging criteria were not met. Neither there were regional wall abnormalities in the RV nor was there fibrofatty infiltration of the RV. While there was global RA and RV enlargement and reduced RV function, there was no LV involvement. Our patient thus qualified for diagnosis of ARVC according to the Herat Rhythm Society guidelines of 2019, based on the ECG criteria.

Accurate diagnosis of ARVC is crucial as these patients require an ICD as therapy. It is questionable as to how many patients do not receive the appropriate therapy as they are not diagnosed correctly and referred to tertiary centers for ICD implantation.


  Conclusion Top


There is need to re-assess imaging findings for the diagnosis of ACM which may not strictly conform to the proposed criteria. There is always the probability of misdiagnosing and overdiagnosing this condition when the patient does not conform to the diagnostic criteria. Genetic testing if included as an addition might improve accuracy. However, currently, the interpretation of molecular testing for gene defects associated with ACM may be difficult due to the limitations of current understanding of the genetic background of this disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name 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

1.
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, et al. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria. Int J Cardiol 2020;319:106-14.  Back to cited text no. 1
    
2.
Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FC, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary. Heart Rhythm 2019;16:e373-407.  Back to cited text no. 2
    
3.
Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-50.  Back to cited text no. 3
    
4.
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation 2010;121:1533-41.  Back to cited text no. 4
    
5.
Corrado D, Basso C, Judge DP. Arrhythmogenic cardiomyopathy. Circ Res 2017;121:784-802.  Back to cited text no. 5
    
6.
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. 6
    


    Figures

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



 

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