Displasia aritmogenica

Question 1

Fisiopatologia

Answer 1

Autosomica dominante o recessiva
Origine genetica, 1/5000.
Sostituzione del tessuto miocardico con tessuto fibroadiposo, facilitando lo sviluppo di circuiti di rientro come la tachicardia ventricolare monomorfa

Right ventricular myocardial cell death (due to myocyte apoptosis, inflammation, and fatty/fibrotic tissue replacement) → thinning of the ventricular wall → dilation of the right ventricle → ventricular arrhythmia and dysfunction
The left ventricle can also be affected, but consequences are usually less severe.
Clinical features

Question 2

Localizzazione

Answer 2

Triangolo della displasia

1. zona afflusso
2. zona efflusso
3. apice

Question 3

Findings

Answer 3

ECG

• onde T negative in V1,2,3
• Repolarization disturbances in the right precordial leads (V1-3) → possibly epsilon wave (at the end of a widened QRS complex)
• Highly specific for ARVC but only occurs in about one-third of patients
• Increased QRS duration
• Ventricular tachycardia
• Ventricular extrasystoles
• rbbb and QRS lbbb morphology

Eco/MRI
Echocardiography and cardiac MRI
RV enlargement
RV wall motion abnormalities
↓ RV EF
Localized RV aneurysms

Question 4

Clinica

Answer 4

Highly variable; many patients remain asymptomatic!

• Angina pectoris
• Dyspnea
• Peripheral edema, ascites, hepatic and splenic congestion
• Palpitations, syncope, possibly sudden cardiac death (particularly during or after exercise)

Question 5

Diagnosi

Answer 5

ARVC is diagnosed based on the AHA criteria which include five groups of features:
1.Dysfunction and structural abnormalities of RV (can be revealed by echocardiography, MRI, or RV angiography)

2. Histological characteristics (require myocardial biopsy)
3. Abnormal repolarization (diagnosed with ECG)
4. Depolarization/conduction abnormalities (diagnosed with ECG, esempio blocchi di branca)
5. Arrhythmias (diagnosed with ECG)
6. Family history (confirmation of ARVC in a relative either by criteria, pathological examination in surgery or autopsy, or by genetic testing)

Question 6

Trattamento

Answer 6

• Sintomatico, mediante cardioversione elettrica e antiaritmici
• Bblockers per la prevenzione
• ablazione mediante catetere
• ICD nei soggetti che sopravvivono alla morte cardiaca improvvisa o con importante ventricular involvement
• se presente insufficienza cardiaca, diuretici e h

Avoid intense physical exertion.
Antiarrhythmic treatment
Pharmacologic: beta blockers (e.g., sotalol), amiodarone, calcium channel blockers
Invasive
ICD implantation (in high-risk patients, e.g., patients with left ventricular involvement)
Radiofrequency ablation (only as ancillary treatment)
Heart transplant (in severe cases refractory to all other treatments)
Screening and genetic counseling for 1st-degree relatives