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]
- Heart Disease
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 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]
Usually presents with palpitations or syncope. Arrhythmias and SCD are common. Previously undiagnosed ARVC accounts for about 20% of SCDs. RV failure: Extension of disease to the whole of the right ventricle causes dysfunction. [patient.info]
- 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]
- 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]
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
- 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]
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]
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]
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]
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.  In other cases, it may result from an acquired etiology such as viral infection ( myocarditis ) or unidentified inheritance. [emedicine.medscape.com]
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]
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]
· 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]
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]
Appropriate pharmacological therapy and the prevention of sudden death with implantable defibrillators are important in the management of these patients. [jhu.pure.elsevier.com]
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