Cardiomyopathies

Cardiomyopathies are diseases of the heart muscle: they include 5 different forms, depending on the size and thickness of the walls of the left ventricle, or the right ventricle or both. For a long time they can be completely asymptomatic, that is, they do not cause any problems. But they can also suddenly manifest themselves with events such as heart failure, or arrhythmias such as atrial fibrillation or serious ventricular arrhythmias, which can cause cardiac arrest and sudden death (tachycardia or ventricular fibrillation).

Few other areas of cardiology have seen such a significant contribution from scientific research, with improved diagnosis and therapeutic management. Consequently, excellent results have been obtained with reduction or abolition of symptoms, an increase in the quality of life and working capacity, and a reduction in mortality, both for heart failure and cerebral embolism, and for sudden death from ventricular arrhythmias.

The most common cardiomyopathies

Cardiomyopathies include several forms, each with unique characteristics. Below, we present the most common types.

Hypertrophic cardiomyopathy
Hypertrophic obstructive cardiomyopathy

Dilated cardiomyopathy
Arrhythmogenic cardiomyopathy

Restrictive cardiomyopathy
Left ventricular non-compaction

Symptoms

Cardiomyopathies (CM) are often initially asymptomatic, meaning symptoms may be absent or unnoticed by the patient. In these cases, diagnosis is made through random checks, such as during a sports medicine exam. 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

The diagnosis is made with the integrated use of the Electrocardiogram (ECG), Color Doppler ECHOcardiogram (ECHO), Cardiac Magnetic Resonance Imaging (MRI), Dynamic ECG (the latter to evaluate any arrhythmias) together with blood tests. Subsequently, in specialized centers, genetic analysis and other specific tests can also be performed, to identify the disease that generated the Cardiomyopathy, specify the stage of the disease, the possible involvement of other organs and finally decide on the optimal therapy.

Treatment options

The continuous progress achieved in recent years has made numerous therapeutic options available, including different types of medical therapy, cardiac surgery, ablation of arrhythmias, transvenous or subcutaneous defibrillators (S-ICD), pacemaker implantation (also for resynchronization) up to heart transplant, when necessary.

The less common forms of cardiomyopathy

With the different forms of cardiomyopathy, numerous diseases occur, some of which are caused by genetic mutations, while others have different, well-identifiable causes. Here are the most frequent ones.

Pediatric cardiomyopathies
Cardiac amyloidosis

Fabry disease
Chemo and Radiotherapy-induced Cardiomyopathy

Alcoholic cardiomyopathy
Various cardiomyopathies (CM)

Genetics

Today we know of thousands of "genetic mutations" in numerous genes that cause cardiomyopathies. The search for "mutations" in genes known so far is important to evaluate well the patient who has a cardiomyopathy and his family members.

Genetics
Thematic sheet Genetics
Video library – Genetics in cardiomyopathies

Hearts Listening

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.

Contact Listening Hearts

Main cardiomyopathies

Other cardiomyopathies

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