Arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy of the right and/or left ventricle (ACM)) is a disease of the ventricular myocardium characterized by the presence of areas of fibrosis (scar tissue) replacing the myocardial tissue (heart muscle) in some areas of the wall of the right and/or left ventricle, and by dilation of the right and/or left ventricle. In the most severe cases, it can spread, even to both ventricles, which are dilated.
General description of the disease
It is a genetic disease
The three main genes that cause CMA among those identified so far encode three different proteins, (
Plakofilin, Desmoplakina and Plakoglobin), which form the “contacts” between one cell and another in the heart, called intercellular junctions or also “desmosomes”.
As a result of genetic mutations, these proteins are defective and can cause the junctions between cells to break and subsequently disappear, replaced by fibrotic scar tissue associated with localized or diffuse ventricular dilation.
As in other cardiomyopathies, the probability of identifying the responsible mutation is higher if one or more family members have died suddenly at a young age, or if there are other subjects with cardiomyopathy in the family.
Healthy heart
Heart with arrhythmogenic cardiomyopathy
Right and left arrhythmogenic cardiomyopathy: fibrosis of the walls, increased cavities and reduced contractile force of the right and/or left ventricle, with associated ventricular arrhythmias, even life-threatening (
Ventricular tachycardia or ventricular fibrillation)
Symptoms
Initially, CMI is often asymptomatic, meaning that the symptoms may be absent or not perceived by the patient and the diagnosis in these cases is made through random checks such as during a sports medical examination. The most common symptoms, when present, are:
Diagnosis
To recognize and diagnose
CMA It's not easy, especially when the abnormalities are in their initial stages and limited to certain areas. A careful evaluation of the ECG and the right ventricular walls with echocardiography should raise suspicion of the diagnosis. Suspicion often arises in the presence of arrhythmias, premature atrial and ventricular beats (extrasystoles), often triggered by exercise.
In some patients more complex arrhythmias (Sustained ventricular tachycardia or ventricular fibrillation) can be life-threatening, causing sudden loss of consciousness (syncope) and/or bring to thecardiac arrest.
Diagnosis
To make the diagnosis, it is necessary to perform non-invasive clinical and instrumental tests:
Further investigations are then carried out, which include:
These tests allow us to evaluate the severity of the heart disease and the risk of developing any complications.
CMA is among the most common causes of sudden death among young athletes.
Video insights on arrhythmogenic cardiomyopathy
See also the following sections
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If you or a family member have been diagnosed with Hypertrophic Cardiomyopathy, AICARM is by your side.
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