Arrhythmogenic ventricular cardiomyopathy predominantly affects the right ventricular myocardium and causes ventricular arrhythmias, sudden death and right-sided cardiac failure.
Inheritance and myocardial changes
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Inheritance and prevalence: The condition is inherited in an autosomal dominant manner and affects approximately 10 per 100000 people.
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Genetics: Desmosomal protein genes are involved, most commonly plakophilin 2 (PKP-2). Current genetic testing does not identify the responsible gene in many cases.
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Pathology: Patches of right ventricular myocardium are replaced by fibrous and fatty tissue.
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Left ventricular involvement: The left ventricle can also be affected, which is associated with a poorer prognosis.
Diagnosis and family screening
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Diagnostic assessment: Diagnosis uses a complex set of criteria incorporating electrocardiography, structural assessment, genetics and arrhythmias.
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Typical electrocardiogram: The QRS complex is slightly broadened, with inverted T waves in the right precordial leads.
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Family screening: Magnetic resonance imaging, a 12-lead electrocardiogram and ambulatory electrocardiographic monitoring are used to screen first-degree relatives.
Management
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Right-sided cardiac failure: Diuretics are used for treatment.
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Cardiac arrhythmias: Beta-blockers are used for treatment.
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High sudden-death risk: An implantable defibrillator can be offered.