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].

• Inflammation

  Arrhythmogenic right ventricular cardiomyopathy (ARVC) is caused by fibro-fatty replacement of RV myocytes due to apoptosis, inflammation (definite causes for either mechanism are as yet unknown) or a genetic cause. [patient.info]

  […] cardiomyopathy, heart muscle disease, hypertrophic cardiomyopathy, long QT syndrome, myocardial disease, rapid heartbeat, slow heartbeat, ventricular arrhythmia, ventricular fibrillation, ventricular tachycardia, acute coronary syndrome, obesity, heart attack, inflammation [nyulangone.org]

  This cell death causes inflammation with scar formation and fat deposition. These fibrofatty islands predispose the individual to develop arrhythmias. [geneticheartdisease.org]

  The in vivo quantification of inflammation, endothelial function and other key processes will also be evaluated. Philippa and Marvin Carsley Cardiology Chair - Dr. Peter Guerra Dr. [icm-mhi.org]

  The disease manifests more frequently in active individuals, when mechanical sheer stress can cause cell membrane damage, inflammation, and fibrosis in genetically predisposed RV. [emedicine.medscape.com]

• Collapse

  The second was a soccer player aged 13, with no any previous physical discomfort, who suddenly collapsed and died during training. [ncbi.nlm.nih.gov]

  Puerta is the third high-profile footballer to die after collapsing on the field in recent years. [edition.cnn.com]

  Defender Puerta, 22, collapsed in the first-half and medics prevented him from swallowing his tongue. But he collapsed again after going off and was given cardiac resuscitation before being taken to hospital. [news.bbc.co.uk]

  The first symptom may be collapse or sudden death. Other people may have symptoms of an erratic heartbeat (palpitations or a racing heart beat). [web.archive.org]

• Fever

  Serious adverse effects included femur fracture in the usual care group and fever, confusion, urinary tract infection and ventricular fibrillation (one patient during diagnostic angiography before cell infusion) in those assigned cardiosphere-derived [healio.com]

  […] coccidioidomycoses, Actinomyces Neuromuscular disorders Duchenne muscular dystropy, Friedreich ataxia, other muscular dystrophies Nutritional factors Kwashiorkor, pellagra, thiamine deficiency, selenium deficiency Collagen vascular diseases Rheumatic fever [transplantbuddies.org]

  This typically presents 2 to 4 weeks after the ablation with fever, chills, and recurrent neurologic events or more acutely as septic shock or death. [clinicalpainadvisor.com]

  Familial Mediterranean Fever Mordechai Shohat. Initial Posting: August 8, 2000; Last Update: December 15, 2016. Familial Monosomy 7 Syndrome Jennifer JD Morrissette, Gerald Wertheim, and Timothy Olson. [ncbi.nlm.nih.gov]

• Pallor

  Symptoms are often vague; typical features of NMS, such as pallor and sweatiness, are absent. The eyes are usually open in epileptic seizures and syncope but are usually closed in functional transient loss of consciousness. [patient.info]

  Palpitations Light-headedness Syncope Chest pain Anxiety Physical examination During VT, the following may be observed: Hypotension Tachypnea Signs of diminished perfusion, including a diminished level of consciousness, pallor, and diaphoresis High jugular [emedicine.medscape.com]

  Pallor, sweating, easy fatigability, failure to gain weight, and decreased urine output may be present. Wheezing may be an important manifestation in infants. [transplantbuddies.org]

• Surgical Procedure

  Dedicated chapters emphasise the role of echo in surgical procedures, and explore its use with electrophysiology – in patients with pacemakers and those undergoing cardiac resynchronisation therapy. [radiologyebook.vn]

  procedures, and surgical implants. [dovemed.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]

• Nausea

  He denied any pre-syncopal episodes, nausea, vomiting, palpitation, and profuse sweating. The patient regained consciousness within a few seconds. [pulmonarychronicles.com]

  Symptoms, signs and consequences of Congestive heart failure can include: Fatigue Irregular pulse or palpitations Swelling of feet and ankles Weight gain Nausea Shortness of breath Difficulty sleeping flat in bed ( orthopnea ) Bloating and abdominal pain [en.wikipedia.org]

  Safety of domperidone in treating nausea associated with dihydroergotamine infusion and headache. Neurology. 2016 Dec 13; 87(24):2522-2526. PMID: 27837002. [profiles.ucsf.edu]

• Vomiting

  He denied any pre-syncopal episodes, nausea, vomiting, palpitation, and profuse sweating. The patient regained consciousness within a few seconds. [pulmonarychronicles.com]

  Vomiting, diarrhoea and other causes of dehydration. Addison's disease. Cardiac arrhythmias: Sick sinus syndrome, atrioventricular (AV) conduction system disease. Paroxysmal supraventricular tachycardia, ventricular tachycardia. [patient.info]

  Identification of Any Underlying Etiology style="spacerun: yes"> Approach Findings Conclusion Clinical features Positive family history Genetic cause for DCM Acute or chronic encephalopathy, muscle weakness, hypotonia, growth retardation, recurrent vomiting [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]

• Hypotension

  Hemodynamic parameters were stable, and only simple intervention using methoxamine (α 1 adrenergic receptor agonist) was required against mild hypotension; VT did not occur throughout the surgery. [ispub.com]

  Orthostatic hypotension (postural hypotension) - syncope occurs after standing up: Autonomic failure: Multiple system atrophy, Parkinson's disease, diabetic neuropathy, amyloidosis. Medications - eg, antihypertensives. Post-exercise. Postprandial. [patient.info]

  […] levels; rifampin decreases levels; probenecid may increase levels; the hypotensive effects of ACE inhibitors may be enhanced when given concurrently with diuretics Pregnancy C - Safety for use during pregnancy has not been established. [transplantbuddies.org]

  On postoperative day 1, the patient was able to sit up without orthostatic hypotension, and echocardiography showed that EF returned to 35%. There was no development of metabolic acidosis. [anesthesiology.pubs.asahq.org]

  Individuals can experience transient bradycardia, hypotension, and even asystole during the study and therefore it may not be appropriate during pregnancy. [ingentaconnect.com]

• Vascular Disease

  […] heart rhythms, high cholesterol level, arteriosclerosis, coronary heart disease, lipid metabolism, renal artery stenosis, heart throbbing, congestive heart failure, heart disease, peripheral vascular disease, angina, aortic valve stenosis, high blood [nyulangone.org]

  Tier 1 Canada Research Chair in Vascular Optical Imaging - Dr. [icm-mhi.org]

  Pulmonary and systemic vascular resistances are elevated. With end-stage disease, the peak systolic left ventricular and aortic pressures drop. [transplantbuddies.org]

• 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]

• Stroke

  Resonance Imaging Keywords: Aneurysm, Arrhythmias, Cardiac, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathies, Death, Sudden, Cardiac, Dyspnea, Electrocardiography, Heart Ventricles, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Stroke [acc.org]

  Chauhan has established a productive translational electrophysiology research program supported by the Heart and Stroke Foundation of Ontario and the Canadian Foundation for Innovation. [physiology.webservices.utoronto.ca]

  "Heart disease and stroke statistics—2009 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee". Circulation. 119 (3): e21–181. doi : 10.1161/CIRCULATIONAHA.108.191261. PMID 19075105. [en.wikipedia.org]

  If required, a biopsy of the heart muscle may be ordered Some potential complications of Arrhythmogenic Right Ventricular Cardiomyopathy include aberrant heartbeats (arrhythmia), sudden cardiac arrest, development of blood clot, stroke, and fluid build-up [dovemed.com]

  Transient ischaemic attacks / stroke. Psychogenic pseudosyncope. See also separate Dizziness, Giddiness and Feeling Faint article. [patient.info]

• 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]

• Asthenia

  We describe an unusual case of a 44-year-old woman who was hospitalized for ventricular tachycardia, deep asthenia and dyspnoea with no previous history of cardiac disease. [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 [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]

• Short QT Interval

  Prolonged or short QT interval. Right bundle branch block pattern with ST elevation in leads V1-V3 (Brugada pattern). Features suggestive of arrhythmogenic right ventricular cardiomyopathy. [patient.info]

• Prolonged QT Interval

  ECG changes include nonspecific ST segment and T wave changes, decreased QRS voltage, prolonged QT interval, sinus tachycardia and, rarely, ventricular, junctional, or supraventricular tachycardia or atrioventricular and bundle branch blocks. [transplantbuddies.org]

• Early Repolarization

  The high frequency of electrocardiographic early repolarization limited to inferior leads (22%) is probably due to late depolarization and represents an already reported typical feature of ARVD/C. [ncbi.nlm.nih.gov]

  Characterization of early repolarization during ajmaline provocation and exercise tolerance testing. Heart Rhythm. 2012 Oct 23. [sgul.ac.uk]

  Caliskan K, Ujvari B, Bauernfeind T, Theuns DA, Van Domburg R T, Akca F, Jordaens L, Simoons ML,Szili-Torok T.The prevalence of early repolarization in patients with noncompaction cardiomyopathy presenting with malignant ventricular arrhythmias. [pulmonarychronicles.com]

  Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. Eur Heart J. 2010 Feb. 31 (3):330-9. [Medline]. [Full Text]. Tomlinson DR, Cherian P, Betts TR, Bashir Y. [emedicine.medscape.com]

• 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]

• 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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