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Arrhythmogenic Right Ventricular Dysplasia

Arrhy Right Ventric Cardiomyop

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.


Presentation

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 [1]. It has a strong familial association with a majority of patients having an autosomal dominant pattern of inheritance [1] [2]. 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 [3] [4] [5] [6].

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 [7] [8]. 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 [9] [10].

Exertional Dyspnea
  • The signs and symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy include: Shortness of breath during physical activity/exertion (exertional dyspnea) Shortness of breath while lying down (orthopnea) Fainting Palpitations; a sensation of rapid,[dovemed.com]
Epigastric Tenderness
  • Aside from epigastric tenderness, the patient's physical examination was unremarkable. She developed ventricular tachycardia with left bundle branch block morphology shortly after admission.[ncbi.nlm.nih.gov]
Tachycardia
  • 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]
  • A left bundle branch block inferior axis tachycardia was manifest. At electrophysiological study this tachycardia was inducible and was ablated in the septal right ventricular outflow tract (RVOT).[ncbi.nlm.nih.gov]
  • His admission ECG demonstrated a sustained ventricular tachycardia (VT) originating from the right ventricular outflow tract (RVOT).[ncbi.nlm.nih.gov]
  • The aviator presented with symptomatic sustained ventricular tachycardia at the age of 46 after nearly 3 decades of active flight duty as a rotary wing pilot in the Israeli air force.[ncbi.nlm.nih.gov]
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a major cause of ventricular tachycardia and cardiac arrest in young adults. The ideal management of this genetic disorder is individual.[ncbi.nlm.nih.gov]
Heart Disease
  • However, using iPSC-derived cardiomyocytes (iPSC-CMs) to model an adult-onset heart disease remains challenging owing to the uncertainty regarding the ability of relatively immature iPSC-CMs to fully recapitulate adult disease phenotypes.[ncbi.nlm.nih.gov]
  • Arrhythmogenic right ventricular dysplasia (ARVD) and primary cardiac tumours are rare conditions among heart diseases.[ncbi.nlm.nih.gov]
  • 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]
  • Ventricular arrhythmias occur frequently in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) as well as those with ischemic heart disease.[ncbi.nlm.nih.gov]
  • A sudden cardiac death due to physical exercise in young athletes in Croatia suffered of arrhythmogenic right ventricular dysplasia reached 0.07/ 100.000 yearly (p 0.00000), in all young athletes suffered of heart diseases reached 0.19/100 000 (p 0.00005[ncbi.nlm.nih.gov]
Palpitations
  • ., 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]
  • We report a case of a 68-year-old man admitted to the emergency department with syncope preceded by rapid palpitations.[ncbi.nlm.nih.gov]
  • A 37-year-old male with a history of palpitations and ventricular tachycardia was diagnosed with arrhythmogenic right ventricular dysplasia/cardiomyopathy on the basis of clinical assessment, electrocardiography and echocardiography.[ncbi.nlm.nih.gov]
  • 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]
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]
Long Arm
  • ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.[ncbi.nlm.nih.gov]
Dizziness
  • 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]
  • Eight of the patients developed ventricular tachycardia (VT) and ventricular fibrillation (VF), one of them showed epsilon wave, one of them showed type-1 Brugada wave, seven of them exhibited syncope or dizziness, and none of the patients had a family[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]
Neglect
  • 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]
Exercise-Induced Syncope
  • 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]

Workup

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 [11]. 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 [9] [11] [12]. 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 [11]. Electrophysiology helps to detect tachycardia events, their role in the development of serious arrhythmias, and to differentiate between idiopathic right ventricular arrhythmias and ARVD [12] [13] [14].

Choosing an imaging modality for the diagnosis of ARVD is difficult [15]. 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 [16] [17] [18] [19] [20] [21].

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 [13].

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]
Prolonged PR Interval
  • These findings agree with a recent study that included 41 lamin A/C mutation-positive subjects and showed association of myocardial septal fibrosis with ventricular arrhythmias and a prolonged PR-interval [ 39 ].[doi.org]
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]
  • Non-invasive family screening may largely be based on T-wave inversion, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles to identify mutation carriers.[ncbi.nlm.nih.gov]
  • Right ventricular parietal block, reduced QRS amplitude, epsilon wave, T wave inversion in V1-3 and ventricular tachycardia in the morphology of left bundle branch block are the characteristic changes that reflect the underlying genetic predetermined[ncbi.nlm.nih.gov]
  • All four patients had T wave inversion in chest leads V1 to V4, and two had epsilon waves, and all four had premature ventricular complexes of left bundle branch block and left axis deviation pattern.[ncbi.nlm.nih.gov]
Electrocardiogram Change
  • 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]
Low-Voltage Electrocardiogram
  • 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]

Treatment

  • The treatment options are antiarrhythmic drug therapy, transcatheter radiofrequency catheter ablation, implantable cardioverter defibrillator therapy, and surgical treatment [Kies P, Bootsma M, Bax J, Schalij MJ, van der Wall EE.[ncbi.nlm.nih.gov]
  • Current treatment for ARVD is empirical and essentially based on treatment of arrhythmia. Thus, there is no validated treatment that will prevent the deterioration of RV function in patients with ARVD.[ncbi.nlm.nih.gov]
  • Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and implantable cardioverter defibrillator are the mainstay of treatment of ARVD/C. Copyright 2013 Mosby, Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • Ablation techniques have been used for the treatment of ventricular tachycardia in cases resistant to drug therapy.[ncbi.nlm.nih.gov]
  • The treatment received by the patient was kept until the day of surgery. The act took place under general anesthesia. The postoperative period was uneventful and morphine titration was used for pain relief.[ncbi.nlm.nih.gov]

Prognosis

  • A review of the existing literature on diagnosis of ARVD/C, its clinical presentation and natural history, its genetic basis, risk stratification, treatment, and prognosis is presented.[ncbi.nlm.nih.gov]
  • An established diagnosis of cardiac sarcoidosis (CS) portends an ominous prognosis, with an estimated five year-survival of 44%.[ncbi.nlm.nih.gov]
  • Prognosis ARVC tends to be progressive with deterioration of RV function. The left ventricle may become involved with progression of the degenerative process.[patient.info]
  • Echocardiography has a role in the diagnosis and prognosis of ARVD/C. However, in the current era of magnetic resonance imaging (MRI), the role of echocardiography in ARVD/C patients and family member screening is subject to debate.[ncbi.nlm.nih.gov]
  • To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin[ncbi.nlm.nih.gov]

Etiology

  • The main differential diagnoses with other frequent etiological causes of sudden arrhythmia are: idiopathic outflow tract ventricular tachycardia of the RV, myocarditis, dilated cardiomyopathy and sarcoidosis.[ncbi.nlm.nih.gov]
  • It summarizes ne- ly 25 years of investigation on the etiology, genetics, pathology, clinical features, - agnosis, and treatment of ARVC/D.[books.google.com]
  • Etiology ARVC results from a fibro-fatty replacement of myocardium.[orpha.net]
  • Both idiopathic and familial etiologies have been proposed (see epidemiology above) 2.[radiopaedia.org]
  • Familial cases account for 30%-90% of cases. [9] In other cases, it may result from an acquired etiology such as viral infection ( myocarditis ) or unidentified inheritance.[emedicine.medscape.com]

Epidemiology

  • In this article, we review the considerable body of epidemiologic data, basic research, and clinical research supporting the link between exercise and the development and outcomes of ARVD/C.[ncbi.nlm.nih.gov]
  • Arrhythmogenic Right Ventricular Cardiomyopathy In this article Epidemiology Clinical presentation Investigations Management Prognosis Formerly called arrhythmogenic right ventricular dysplasia.[patient.info]
  • Summary Epidemiology Arrhythmogenic right ventricular cardiomyopathy (ARVC) has a reported prevalence of 1/2,500 to 1/5,000. Clinical description ARVC has a variable clinical picture.[orpha.net]
  • Both idiopathic and familial etiologies have been proposed (see epidemiology above) 2.[radiopaedia.org]
  • The volume chapters, written by leading experts in these fields, offer the latest information about epidemiology, pathophysiology, diagnosis and novel treatments of these pathologies.[books.google.es]
Sex distribution
Age distribution

Pathophysiology

  • These results displace the RV apex from the Triangle of Dysplasia, and provide insights into the pathophysiology of ARVD/C. 2013 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • Therefore, this article aims to review the pathophysiology of the disease, the cardiac MRI protocol, images of the various stages of this affection as well as the differential diagnosis. Copyright 2015 Éditions françaises de radiologie.[ncbi.nlm.nih.gov]
  • These findings highlight a key role of desmosomal cadherins in the pathophysiology of ARVD/C. Whether these reductions could be considered as specific markers for ARVD/C requires replication analysis.[ncbi.nlm.nih.gov]
  • This review will discuss the changing spectrum of ARVD/C based on recent advances in diagnosis, genetics, and improved understanding of disease pathophysiology. Copyright 2015 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • . · Pathophysiology, molecular mechanisms, and genetic background. · The mechanisms of disease progression leading to a diversity of disease phenotypes. · Challenges in the clinical setting with respect to diagnosis, risk stratification, and therapy.[books.google.com]

Prevention

  • There were 610 patients (mean age, 40.4 years; 42% women), who had an ICD for primary or secondary prevention of sudden cardiac death.[ncbi.nlm.nih.gov]
  • However, a cardioverter defibrillator was implanted to prevent new VT caused by disease progression.[ncbi.nlm.nih.gov]
  • Establishing the diagnosis in aviators may be particularly important since it may prevent sudden incapacitation. We present a case of an aviator with ARVD, in whom the diagnosis was delayed despite an abnormal ECG pattern witnessed over 20 yr.[ncbi.nlm.nih.gov]
  • Prevention of sudden death is the primary goal of management. Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and implantable cardioverter defibrillator are the mainstay of treatment of ARVD/C.[ncbi.nlm.nih.gov]
  • Such patients should be managed with close monitoring during pregnancy for signs and symptoms of arrhythmia and preventive obstetric care appropriate to their clinical profile to optimize normal deliveries.[ncbi.nlm.nih.gov]

References

Article

  1. Ahmad F. The molecular genetics of arrhythmogenic right ventricular dysplasia cardiomyopathy. Clin Invest Med. 2003;26:167–178.
  2. Wlodarska EK, Konka M, Kepski R, et al. Familial form of arrhythmogenic right ventricular cardiomyopathy. Kardiol Pol. 2004;60:1–14.
  3. 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.
  4. 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.
  5. Hosey RG, Armsey TD. Sudden cardiac death. Clin Sports Med. 2003;22:51–66.
  6. 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.
  7. Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823-32.
  8. 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
  9. Nava A, Rossi L, Thiene G, eds. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Amsterdam: Elsevier, 1997.
  10. 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.
  11. Rossi PA. Arrhythmogenic right ventricular dysplasia—clinical features. Eur Heart J. 1989;10(Suppl D):7–9
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. Blake LM, Scheinman MM, Higgins CB. MR features of arrhythmogenic right ventricular dysplasia. AJR Am J Roentgenol. 1994;162:809–812.
  19. Ricci C, Longo R, Pagnan L, et al. Magnetic resonance imaging in right ventricular dysplasia. Am J Cardiol. 1992;70:1589–1595.
  20. 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.
  21. 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.

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Last updated: 2019-07-11 19:56