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].

• Asymptomatic

  In asymptomatic mutation carriers, prolonged EMI in the subtricuspid area is often detected without any additional abnormalities. [ncbi.nlm.nih.gov]

  +BB RV Asymptomatic 5 1/3 151, III, 4 c.5324G>T R1775I F 52 20 — — — — — Asymptomatic 1 0/2 151, IV, 1 c.5324G>T R1775I M 13 0 — — — — — Asymptomatic 3 0/2 151, IV, 4 c.5324G>T R1775I M 18 0 V1 — — — — Asymptomatic 1 0/1 152, I, 1 c.3764G>A R1255K F 81 [doi.org]

• Pain

  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. [symptoma.com]

  This report describes a 12-year-old girl with arrhythmogenic right ventricular dysplasia, presenting with severe right ventricular failure symptoms including fatigue, abdominal pain and distension due to abdominal ascites. [ncbi.nlm.nih.gov]

• Congestive Heart Failure

  Orthotopic heart transplantation must always be considered in advanced cases of ARVD with malignant arrhythmias or refractory congestive heart failure with or without uncontrolled arrhythmias, because it is the only way to remit the symptoms and the disease [ncbi.nlm.nih.gov]

  Patients with heart failure symptoms are generally treated with medications called ACE inhibitors and diuretics. In very rare cases, heart transplantation can be required for uncontrollable arrhythmias and for severe congestive heart failure. [brighamandwomens.org]

  In refractory congestive heart failure or untreatable ventricular arrhythmias, heart transplantation can be also considered. [orpha.net]

  The pumping of the heart gets weaker, and the circulation slows. IDC results in a heart that is too weak to circulate the blood properly. The most common problem is congestive heart failure. [transplantbuddies.org]

• Fatigue

  This report describes a 12-year-old girl with arrhythmogenic right ventricular dysplasia, presenting with severe right ventricular failure symptoms including fatigue, abdominal pain and distension due to abdominal ascites. [ncbi.nlm.nih.gov]

  […] 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 to carry out normal activities without fatigue [my.clevelandclinic.org]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.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]

  […] rhythms (palpitations) 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 to carry out normal activities without fatigue [cincinnatichildrens.org]

• Unconsciousness

  NB : prolonged unconsciousness, witnessed abnormal behaviour before, during or after the event, confusion after the event, tongue biting, head turning or prolonged limb jerking, unusual posturing - all suggest a non-syncopal event and should prompt referral [patient.info]

  In a patient who is hemodynamically unstable or unconscious, however, the diagnosis of VT is made from the physical findings and ECG rhythm strip only. Advanced cardiovascular life support (ACLS) protocols should be quickly followed. [emedicine.medscape.com]

• 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]

• Hepatomegaly

  The infant or young child with the disease is often tachypneic, tachycardic with weak peripheral pulses, and has cool extremities and hepatomegaly. Blood pressure is low with a decreased pulse pressure. [transplantbuddies.org]

• Tachycardia

  Tricuspid valve disease Pulmonary hypertension Right ventricular infarction Bundle-branch re-entrant tachycardia Miscellaneous Pre-excited AV re-entry tachycardia Idiopathic RVOT tachycardia Sarcoidosis Clinical testing In order to make the diagnosis [wikidoc.org]

  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]

  Treatments include: We treat a full range of hereditary heart and blood vessel diseases: Clinical trials for inherited heart disease often test new medications. [familyheart.stanford.edu]

• Palpitations

  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]

  Clinical presentation Palpitations occurred in six patients, cardiac arrest in three, and syncope in one as the first symptom of the disease. [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]

• Chest Pain

  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. [symptoma.com]

  Clinical presentations were palpitations in six, sudden death (SD) in three, syncope in one, and chest pain with increased myocardial enzymes in two. [ncbi.nlm.nih.gov]

  pain) — Propafenone — Asymptomatic 15 1/4 105, III,11 c.897C>G S299R 18 M 12 40 V1–V5 12 (chest pain) VF, aSD Disop. [doi.org]

  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]

  See a healthcare provider right away if you have severe symptoms like chest pain, passing out, or severe shortness of breath. If your symptoms are gradually increasing, plan to see your healthcare provider soon. [cedars-sinai.edu]

• Left Ventricular Dysfunction

  Desmoplakin mutation carriers experienced more than four-fold occurrence of left ventricular dysfunction (40%) and HF (13%) than PKP2 carriers. [ncbi.nlm.nih.gov]

  Ambrose, Methamphetamine-associated acute left ventricular dysfunction: a variant of stress-induced cardiomyopathy. Cardiology, 2008. 109: p. 188-92. [bjmp.org]

  […] previous myocardial infarction and left ventricular dysfunction is associated with a two-year mortality rate of about 30 percent. [nejm.org]

  Ventricular Dysfunction in Ischemic Cardiomyopathy. [med.upenn.edu]

• Palmoplantar Keratosis

  The autosomal-recessive (Naxos disease) pattern of inheritance is localized to the Greek island of Naxos and is associated with palmoplantar keratosis and wooly hair. [emedicine.medscape.com]

  Naxos disease is described as a triad of ARVD, palmoplantar keratosis, and wooly hair. The signs of Naxos disease are more severe than with autosomal dominant ARVD. [wikidoc.org]

  Ischemic heart disease VT Right ventricular outflow tract VT Supraventricular tachycardia TABLE 3 Differential Diagnosis of ARVD Anatomic Atrial septal defect Biventricular dysplasia Isolated myocarditis Naxos disease (ARVD associated with palmoplantar [aafp.org]

  There is an autosomal recessive variant associated with palmoplantar keratosis and wally hair named Naxos disease. 2 - Prevalence The prevalence in the general population is approximately from 1:2500 to 1:5000 Nevertheless, itis dependent on geographic [escardio.org]

  Differential Diagnosis of ARVD Anatomic Atrial septal defect Biventricular dysplasia Isolated myocarditis Naxos disease (ARVD associated with palmoplantar keratosis) Right ventricular infarct Right-sided valve insufficiency Uhl’s anomaly (congenital absence [af-ablation.org]

• Suggestibility

  Electron beam computed tomography demonstrated hypodense areas in the right ventricular free wall suggestive of fatty infiltration, which suggested arrhythmogenic right ventricular dysplasia. [ncbi.nlm.nih.gov]

• Dizziness

  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]

  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]

  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]

  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]

• Akinesia

  […] m 2 (female) or RV ejection fraction ≤40% By RV angiography: Regional RV akinesia, dyskinesia, or aneurysm By 2D echo: Regional RV akinesia or dyskinesia and 1 of the following (end diastole): PLAX RVOT ≥29 to 2 ) PSAX RVOT ≥32 to 2 ) or fractional area [en.ecgpedia.org]

  Cardiac magnetic resonance imaging (MRI) confirmed right ventricular (RV) dilatation and revealed marked hypokinesia/akinesia of the lateral wall. Exercise stress testing was negative for ischemia. [ncbi.nlm.nih.gov]

  MRI diagnostic criteria are: regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: ratio of RV end-diastolic volume to BSA ≥100 to 2 (male) or ≥90 to 2 (female) RV ejection fraction >40% to ≤45% MRI may show fatty [radiopaedia.org]

  Figure 1 Major criterion by 2D echocardiography ● Regional RV akinesia, dyskinesia, or aneurysm ● and 1 of the following ( end diastole ): — PLAX RVOT ≥32 mm (corrected for body size, PLAX/BSA ≥19 mm/m2) — PSAX RVOT ≥36 mm (corrected for body size, PSAX [wikiecho.org]

  Diagnostic methods Diagnosis is based on a scoring system taking into account right ventricle structural and functional abnormalities (dilatation, akinesia, dyskinesia, aneurysms) detected by echocardiography, MRI and angiography; electrocardiographic [orpha.net]

• Giddiness

  See also separate Dizziness, Giddiness and Feeling Faint article. [patient.info]

• Vertigo

  Dizziness or vertigo without loss of consciousness. Alcohol/drug abuse. Transient ischaemic attacks / stroke. Psychogenic pseudosyncope. See also separate Dizziness, Giddiness and Feeling Faint article. [patient.info]

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]

• 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]

  Inversion of T-waves (including flattened T) in the precordial leads was noted. [doi.org]

• Inverted T Waves in Precordial Leads

  The absence of overt structural changes of the RV, frequent PVCs or inverted T waves in precordial leads all support a benign nature. [doi.org]

• Abnormal ECG

  Conventional 12-lead sinus rhythm ECGs within 6 months of the event were reviewed for diagnostic Task Force Criteria (TFC). ECGs were classified as abnormal (≥1 TFC), nonspecific (abnormal, no TFC), or normal. [ncbi.nlm.nih.gov]

  The diagnosis of ARVD can include all these findings: Abnormal function of the lower right chamber (ventricle) of the heart Fatty or fibrous-fatty deposits in the right ventricle heart muscle (myocardium) Abnormal ECG Abnormal heart rhythms (supraventricular [cincinnatichildrens.org]

  […] evaluated in the Inherited Arrhythmia Clinic Survivor of cardiac arrest not secondary to coronary blockages First-degree relatives of a victim of unexplained sudden cardiac death Individuals with passing-out spells that occur in combination with an abnormal [ottawaheart.ca]

• 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]

Radiofrequency ablation was indicated later because of the failure of this medical treatment. A first attempt of radiofrequency treatment was complicated by ventricular tachycardia with ST elevation and troponin increase. [panafrican-med-journal.com]

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]

The overall prognosis in ARVD is not clear. [geneticheartdisease.org]

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]

Al-Meer, MBBS, and Francis Borgio pp. 337-339 Primary Cardiac Kaposi's Sarcoma Freidon Noohi, MD,, Mahmood Moshiri, MD, CPath, APath, FICN, Hassan Hashemi, MD, Robabeh Shariat, MD, and Afsaneh Forood, MD pp. 357-359 Etiology and Management of Tracheomalacia [annsaudimed.net]

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]

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]

Both idiopathic and familial etiologies have been proposed (see epidemiology above) 2. [radiopaedia.org]

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]

ACE-inhibitors to prevent cardiac remodelling ICD implantation is recommended for the prevention of sudden cardiac death in patients with ARVC with documented sustained VT or VF who are receiving chronic optimal medical therapy. [en.ecgpedia.org]

Load-reducing therapy prevents development of arrhythmogenic right ventricular cardiomyopathy in plakoglobin-deficient mice. J Am Coll Cardiol 2011 ; 57 : 740 – 750. 19. Piccini, JP, Dalal, D, Roguin, A, et al. [cambridge.org]

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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