II. Epidemiology

  1. More common in Mediterranean descent
  2. Prevalence: 1 in 1,000 to 5000
  3. Accounts for 5% of Sudden Cardiac Death in under age 65
  4. Gender predominance: Male by 3:1 margin
  5. Age range (typically 4th decade of life): 20 to 47 years old
  6. Familial in 50% of cases

III. Pathophysiology

  1. Rare inherited Cardiomyopathy with variable Genetics
    1. Common effect is on desmosomal proteins
  2. Right ventricular wall infiltrated with fat and fibrous tissue (fibrofatty infiltration)
    1. Localized to triangle of dysplasia
      1. Superior landmark: Anterior infundibulum
      2. Inferior right landmark: Inferior right ventricle
      3. Inferior left landmark: Right ventricular apex
    2. Results in thinning and ballooning of the right ventricular wall
  3. Associated with Ventricular Tachycardia predisposition

IV. Symptoms

  1. Palpitations
  2. Fatigue
  3. Decreased Exercise tolerance
  4. Dyspnea on exertion

V. Signs: Cutaneous manifestations in Genetic Syndromes

  1. Naxos Disease: Wooly hair and palmoplantar keratoderma

VI. Presentations

  1. May present as sudden death in young athletes
  2. Syncope
  3. Refractory rapid Tachycardia
  4. Sudden Cardiac Death (Cardiac Arrest)

VII. Diagnostics: Specific findings in ARVD

  1. Electrocardiogram (changes present in leads V1-V3)
    1. Right precordial, septal T Wave inversion in V1-V3 (not with right BBB)
    2. QRS Complex duration > 110 ms in leads V1-V3
    3. Epsilon Waves (small amplitude notch at end of QRS Complex)
    4. Right Bundle Branch Block
  2. Echocardiogram
    1. Right ventricular Myocardium with fatty infiltration
    2. Secondary right ventricular wall motion abnormality
    3. Dilatation and reduced right ventricular ejection Fracture
    4. Localized aneurysms or segmental dilatation
  3. Electrophysiologic studies
  4. Endomyocardial biopsy
    1. Myocardium replaced by fibrofatty tissue
    2. Gold standard for diagnosis
    3. Test Sensitivity: 20%
    4. Test Specificity: 92%

VIII. Diagnostics: Other testing to differentiate other causes

  1. Holter Monitor
  2. Exercise Stress Test
  3. MR Angiogram or CT Angiogram

IX. Management: General

  1. Avoid physical exertion until evaluation completed
  2. Cardiology or electrophysiology Consultation

X. Management: Acute termination of Ventricular Tachycardia

  1. See Ventricular Tachycardia
  2. Medications (no single drug is universally effective)
    1. First-line agents
      1. Amiodarone
      2. Sotalol
    2. Other agents if refractory to above
      1. Beta Blockers
      2. Procainamide
      3. Flecainide
      4. Propafenone

XI. Management: Prevent recurrent Ventricular Tachycardia

  1. Therapy goals
    1. Decrease arrhythmia
    2. Prevent Sudden Cardiac Death
  2. Medications
    1. Amiodarone
    2. Sotalol
    3. Beta Blockers
    4. Propafenone
  3. Radiofrequency ablation indications
    1. Medication refractory Ventricular Tachycardia
    2. Frequent Ventricular Tachycardia post-AICD placement
    3. Localized source of arrhythmia
  4. Implantable Defibrillator (AICD) indications
    1. Cardiac Arrest
    2. Ventricular Tachycardia episodes refractory to above
    3. Age <35 years
    4. Left ventricle involved
  5. Surgery in refractory cases
    1. Right ventriculotomy
    2. Heart Transplantation

XII. Complications

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Ontology: Arrhythmogenic Right Ventricular Dysplasia (C0349788)

Definition (MSH) A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Definition (MSHCZE) Stav s náhradou svaloviny, zejm. pravé komory, vazivem a tukovou tkání, s dilatací a arytmiemi, řadí se někdy ke kardiomyopatiím. Kromě arytmií, které mohou někdy způsobit i náhlou smrt, bývají příznaky srdečního selhání; mohou být i asymptomatické formy. Etiologie je různá, existují vlivy genetické i vnější, léčba je symptomatická, zaměřená zejm. proti arytmiím, vč. defibrilátorů apod. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart tissue is replaced by fibrous and adipose tissues. It is characterized by ventricular arrhythmia and right ventricular dysfunction. It is a cause of sudden death.
Definition (NCI_CDISC) A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart tissue is replaced by fibrous and adipose tissues. It is characterized by ventricular arrhythmia and right ventricular dysfunction. It is a cause of sudden death.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D019571
SnomedCT 253528005, 281170005
English Arrhy right ventric cardiomyop, Arrhythm right ventric dysplas, Arrythmogen rt vent dysplasia, Arrythmogenic right ventricular dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia, Right Ventricular Dysplasia, Arrhythmogenic, Arrhythmogenic right ventricular dysplasia, Arrythmogenic right ventricular dysplasia (disorder), Arrhythmogenic right ventricular dysplasia (disorder), Ventricular Dysplasia, Right, Arrhythmogenic, Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia, Arrhythmogenic Right Ventricular Dysplasia [Disease/Finding], Right Ventricular Dysplasia, ARVD, Arrhythmogenic RVD, arrhythmogenic right ventricular dysplasia (diagnosis), ARVD-C, Arrhythmogenic Right Ventricular Dysplasia-Cardiomyopathy, Boxer cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy (disorder)
Italian Displasia aritmogena del ventricolo destro, Cardiomiopatia aritmogenica del ventricolo destro, Displasia aritmogenica del ventricolo destro
Spanish Cariomiopatía Arritmogénica Ventricular Derecha, Miocardiopatía Arritmogénica Ventricular Derecha, displasia arritmogénica del ventrículo derecho (trastorno), displasia arritmogénica del ventrículo derecho, displasia ventricular derecha arritmogénica, miocardiopatía ventricular derecha arritmogénica (trastorno), miocardiopatía ventricular derecha arritmogénica, Displasia aritmogénica del ventrículo derecho, Displasia Arritmogénica de Ventrículo Derecho, Displasia Arritmogénica Ventricular Derecha, Displasia Ventricular Derecha Arritmogénica
Japanese 不整脈原性右室異形成症, フセイミャクゲンセイウシツイケイセイショウ, 不整脈原性右室異形成, 右室異形成-不整脈原性, 不整脈源性右室異形成
Swedish Arytmogen dysplasi i högra hjärtkammare
Czech arytmogenní dysplazie pravé komory, arytmogenní kardiomyopatie pravé komory, Arytmogenní dysplazie pravé komory
Finnish Rytmihäiriöille altistava oikean kammion dysplasia
French Dysplasie arythmogène du ventricule droit, Cardiomyopathie ventriculaire droite arythmogène, Dysplasie ventriculaire droite arythmogène, DVDA
Russian PRAVOZHELUDOCHKOVAIA DISPLAZIIA ARITMOGENNAIA, DISPLAZIIA PRAVOZHELUDOCHKOVAIA ARITMOGENNAIA, ARITMOGENNAIA PRAVOZHELUDOCHKOVAIA KARDIOMIOPATIIA, SERDTSA ZHELUDOCHKA PRAVOGO DISPLAZIIA ARITMOGENNAIA, АРИТМОГЕННАЯ ПРАВОЖЕЛУДОЧКОВАЯ КАРДИОМИОПАТИЯ, ДИСПЛАЗИЯ ПРАВОЖЕЛУДОЧКОВАЯ АРИТМОГЕННАЯ, ПРАВОЖЕЛУДОЧКОВАЯ ДИСПЛАЗИЯ АРИТМОГЕННАЯ, СЕРДЦА ЖЕЛУДОЧКА ПРАВОГО ДИСПЛАЗИЯ АРИТМОГЕННАЯ
Polish AVRD, Dysplazja komory prawej arytmogenna, Arytmogenna dysplazja prawej komory
Hungarian Arrhytmogen jobbkamra-dysplasia
Norwegian ARVC, Arytmogen høyre hjertekammer-dysplasi, Arytmogen høyre ventrikkel-dysplasi
Portuguese Displasia arritmogénica do ventrículo direito, Cardiomiopatia Arritmogênica Ventricular Direita, Displasia Arritmogênica Ventricular Direita, Displasia Ventricular Direita Arritmogênica
Dutch aritmogene dysplasie van rechterventrikel, ARVD, Aritmogene rechterventrikeldysplasie, Dysplasie van de rechterventrikel, aritmogene, Dysplasie, aritmogene rechterventrikel-, Rechterventrikeldysplasie, aritmogene, Ventrikeldysplasie, aritmogene rechter-
German Arrhythmogene rechtsventrikulaere Dysplasie, ARVCM, ARVD, Arrhythmogene rechtsventrikuläre Dysplasie, Arrhythmogene rechtsventrikuläre Dysplasie-Kardiomyopathie, Arrhythmogene rechtsventrikuläre Kardiomyopathie, Rechtsventrikuläre Dysplasie, arrhythmogene, Ventrikuläre Dysplasie, rechtsarrhythmogene