Arrhythmogenic right ventricular dysplasia is an inherited disorder of the heart in which the right ventricular myocardial muscle is progressively replaced by fibrofatty tissue. It is one of the causes of sudden cardiac death in young adults, especially athletes.
Arrhythmogenic right ventricular dysplasia (ARVD) is a cardiac disorder in which the normal myocardium is replaced with fibrofatty tissue. It usually affects the right ventricular myocardium but the involvement of the left ventricle and septum have also been reported. Although it was once considered to be rare, ARVD has an incidence ranging from 6 in 10,000 to 44 per 10,000 in some populations . It has a strong familial association with a majority of patients having an autosomal dominant pattern of inheritance  . ARVD is one of the main causes of sudden cardiac death, accounting for about 4% of deaths in athletes and 5% of sudden cardiac deaths amongst individuals younger than 65 years of age    .
As the disorder is progressive, the clinical presentation may include different symptoms. In most cases, patients with ARVD are young men who present with chest pain or palpitations. Other common manifestations include syncope, atypical chest pain, dyspnea, and sudden cardiac death  . Occasionally symptoms like abdominal pain and confusion may also be present. Rarely, patients can have a cardiac arrest after physical exertion and this may be the first indication of the disorder  .
This is probably the first case of bundle branch reentry as a mechanism for ventricular tachycardia in a case of arrhythmogenic right ventricular dysplasia. [ncbi.nlm.nih.gov]
Tonet J, Himbert C, Johnson N, et al. : Prolongation of ventricular refractoriness and ventricular tachycardia cycle length by the combination of oral beta-blocker-amiodarone in patients with Ventricular Tachycardia. PACE 2000, 23(Part II) :565. [doi.org]
Taking all this different presentations and treatments in to account, we report a case of ARVD presenting with central cyanosis and clubbing simulating congenital heart disease. [ncbi.nlm.nih.gov]
disopyramide; HF, heart failure; ICD, implantable cardioverter defibrillator; LV, left ventricle; Mj, major; m, minor; NSVT, non sustained ventricular tachycardia; palpit., palpitations; QRD, QRS dispersion; RV, right ventricle; SD, sudden death; VF [doi.org]
A history of palpitations, especially in a young athlete or a family history of sudden cardiac death should raise clinical suspicion of ARVD. [symptoma.com]
A 42-year-old male had history of recurrent palpitation and was documented to have wide QRS tachycardia. Magnetic resonance imaging angiogram showed evidence of arrhythmogenic right ventricular dysplasia and severe right ventricular dysfunction. [ncbi.nlm.nih.gov]
Family History of Heart Disease
They were selected as first 100 subjects who responded to the advertisement of healthy control population recruitment and met all necessary criteria, i.e. absence of both personal and family history of heart disease. [doi.org]
A young man presented with a history of myocarditis with palpitations and dizziness. He had implantation of a loop recorder that showed repetitive short episodes of VT. [ncbi.nlm.nih.gov]
Palpitations: Fluttering in the chest due to abnormal heart rhythms Dizziness, lightheadedness, or fainting caused by irregular heart rhythms Sudden cardiac death - can be the first sign of ARVD Heart failure - shortness of breath with activity, inability [my.clevelandclinic.org]
Symptoms of ARVD include: Fainting (syncope) Dizziness Rapid or irregular heartbeat (arrhythmia) Sudden cardiac arrest If you have symptoms of ARVD, they usually develop by the time you are 20 to 40 years old, although symptoms have been seen at all ages [bostonscientific.com]
ARVC can be asymptomatic, or present, usually during adolescence, with ventricular arrhythmias with palpitations, chest pain, dizziness, fatigue, or syncope. All patients are at risk of sudden death, particularly during exertion. [orpha.net]
It is suggested that ARVD is not an ideal name for this condition, because malignant ventricular arrhythmias are not universal, the left ventricular free wall and/or ventricular septum are sometimes involved, and the name "ARVD" neglects the fact that [ncbi.nlm.nih.gov]
A case of a young woman with multiple exercise induced syncopal episodes due to arrhythmogenic right ventricular dysplasia is described. The report emphasizes the importance of exercise induced syncope and the management is described. [ncbi.nlm.nih.gov]
ARVD workup begins with a detailed personal and family history. A history of palpitations, especially in a young athlete or a family history of sudden cardiac death should raise clinical suspicion of ARVD. On physical examination, the presence of a widely split S2 and a third and fourth heart sound are clues to the diagnosis of ARVD although most patients can have a normal cardiac examination . Invasive and non-invasive cardiac testing are essential to confirm the diagnosis. These include electrocardiogram (ECG), Holter monitoring, exercise stress test, right ventricular angiography, contrast echocardiography, electrophysiologic studies, and endomyocardial biopsy.
An ECG performed at rest has typical findings such as inverted T-wave in V1 through V6 leads, small deflections immediately following the QRS complex called epsilon waves in leads V1 through V3, and left bundle branch or even right bundle branch block patterns   . Holter monitoring and exercise stress test are normal in a majority of cases although stress test can induce ventricular tachycardia in advanced cases of ARVD . Electrophysiology helps to detect tachycardia events, their role in the development of serious arrhythmias, and to differentiate between idiopathic right ventricular arrhythmias and ARVD   .
Choosing an imaging modality for the diagnosis of ARVD is difficult . Contrast echocardiography and right ventricular angiography are invasive but help to identify aneurysms and dyskinetic areas of the ventricular wall while cardiac magnetic resonance imaging (MRI), provides, noninvasively, the location of myocardial changes and dysfunction but cannot readily identify intramyocardial fibrofatty transformation      .
The gold standard test for diagnosis of ARVD is endomyocardial biopsy as it has a high specificity. However, it has a low sensitivity since the biopsy has to be taken from the ventricular septum, which has a low risk of perforation but this region also has a minimal activity of the disease .
Wide QRS Complex
The patient consulted for mid-chest discomfort, dizziness, and palpitations; the electrocardiogram showed regular, monomonphic wide QRS complex tachycardia and a left bundle-banch block morphology. [revespcardiol.org]
A new approach to the differential diagnosis of a regular tachycardia with a wide QRS complex. Circulation. 1991 May. 83 (5):1649-59. [Medline]. Vereckei A, Duray G, Szénási G, Altemose GT, Miller JM. [emedicine.medscape.com]
Irregular, sustained wide QRS complex tachycardia can be found in AF with conduction over an accessory pathway or in AF with underlying bundle branch block. [clinicalpainadvisor.com]
Can a new algorithm improve diagnostic accuracy in wide QRS complex tachycardia? Nat Clin Pract Cardiovasc Med. 2007 Aug; 4(8):414-5. PMID: 17579585. View in: PubMed Scheinman MM, Keung E. The year in clinical cardiac electrophysiology. [profiles.ucsf.edu]
T Wave Inversion
This disease often presents as T-wave inversion in the anterior leads of the electrocardiogram (ECG) with life-threatening ventricular arrhythmias. In older patients, progressive right and left ventricular failure can develop. [ncbi.nlm.nih.gov]
T-wave inversion in leads V1 and V2 reached the highest sensitivity of 85% with 82% specificity. [doi.org]
Other ECG Findings
The predominant RV involvement based on echocardiogram, cardiac magnetic resonance imaging (MRI) and right precordial electrocardiogram changes can lead to misdiagnosis as ARVD/C based on the modified task force criteria. [ncbi.nlm.nih.gov]
PLN mutation carriers more often had low-voltage electrocardiograms (p 0.004), inverted T waves in leads V4 to V6 (p Copyright 2013 Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]
- Ahmad F. The molecular genetics of arrhythmogenic right ventricular dysplasia cardiomyopathy. Clin Invest Med. 2003;26:167–178.
- Wlodarska EK, Konka M, Kepski R, et al. Familial form of arrhythmogenic right ventricular cardiomyopathy. Kardiol Pol. 2004;60:1–14.
- Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318:129–33.
- Corrado D, Thiene G, Nava A, Rossi L, Pennelli N. Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. Am J Med. 1990;89:588–596.
- Hosey RG, Armsey TD. Sudden cardiac death. Clin Sports Med. 2003;22:51–66.
- Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J Cardiol. 1999;71:243–250.
- Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823-32.
- Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2004;110(14):1879-1884
- Nava A, Rossi L, Thiene G, eds. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Amsterdam: Elsevier, 1997.
- Coumbe A, Perez-Martinez AL, Fegan AW, Hill IR. Arrhythmogenic right ventricular dysplasia (ARVD): an overlooked and underdiagnosed condition?. Med Sci Law. 1997;37:262–265.
- Rossi PA. Arrhythmogenic right ventricular dysplasia—clinical features. Eur Heart J. 1989;10(Suppl D):7–9
- O’Donnell D, Cox D, Bourke J, Mitchell L, Furniss S. Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J. 2003;24:801–810.
- Iesaka Y, Hiroe M, Aonuma K, et al. Usefulness of electrophysiologic study and endomyocardial biopsy in differentiating arrhythmogenic right ventricular dysplasia from idiopathic right ventricular tachycardia. Heart Vessels. 1990;5(Suppl):65–69.
- Niroomand F, Carbucicchio C, Tondo C, et al. Electrophysiological characteristics and outcome in patients with idiopathic right ventricular arrhythmia compared with arrhythmogenic right ventricular dysplasia. Heart. 2002;87:41–47.
- Stevenson I, Kalman J. Magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular cardiomyopathy: the gold standard or just another imaging modality?. J Interv Card Electrophysiol. 2004;10:27–29.
- Lopez-Fernandez T, Garcia-Fernandez MA, Perez David E, Moreno Yanguela M. Usefulness of contrast echocardiography in arrhythmogenic right ventricular dysplasia. J Am Soc Echocardiogr. 2004;17:391–393.
- White JB, Razmi R, Nath H, Kay GN, Plumb VJ, Epstein AE. Relative utility of magnetic resonance imaging and right ventricular angiography to diagnose arrhythmogenic right ventricular cardiomyopathy. J Interv Card Electrophysiol. 2004;10:19–26.
- Blake LM, Scheinman MM, Higgins CB. MR features of arrhythmogenic right ventricular dysplasia. AJR Am J Roentgenol. 1994;162:809–812.
- Ricci C, Longo R, Pagnan L, et al. Magnetic resonance imaging in right ventricular dysplasia. Am J Cardiol. 1992;70:1589–1595.
- Tandri H, Bomma C, Calkins H, Bluemke DA. Magnetic resonance and computed tomography imaging of arrhythmogenic right ventricular dysplasia. J Magn Reson Imaging. 2004;19:848–858.
- Auffermann W, Wichter T, Breithardt G, Joachimsen K, Peters PE. Arrhythmogenic right ventricular disease: MR imaging vs angiography. AJR Am J Roentgenol. 1993;161:549–555.