Arrhythmogenic cardiomyopathy: diagnosis and therapies

Content index

General description of the disease
Symptoms

Diagnosis
From the Video Library of the Heart

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:

Palpitations
Difficulty making efforts such as climbing stairs due to shortness of breath – Dyspnea

Chest pain at rest or on exertion – Angina
Sudden loss of consciousness – Syncope

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:

Medical visit
Basic electrocardiogram
Echocardiogram

Further investigations are then carried out, which include:

Blood chemistry tests
Dynamic ECG for 48 hours

Stress or cardiorespiratory test
Magnetic resonance imaging with contrast medium

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.

From the Video Library of the Heart

Video insights on arrhythmogenic cardiomyopathy

Arrhythmias – What You Need to Know

Arrhythmias – Tools and Procedures

Do you need help?

If you or a family member have been diagnosed with Hypertrophic Cardiomyopathy, AICARM is by your side.
Our “Listening Hearts” service offers information, guidance and support to those living with this pathology.