General description of the pathology
Cause
They can be familial and caused by sarcomeric genetic mutations with massive hypertrophy (e.g. from double mutation of the genes encoding Myosin or Myosin-binding Protein C) and/or severe diastolic dysfunction (e.g. in the genes encoding the troponin I) or in other genetic diseases such as Fabry disease
Cardiac amyloidosis TTR, the Hypertrophic cardiomyopathy (CMI) massive glycogen storage (Danon's disease).
Other non-genetic causes are well-known, for example, Hemochromatosis in Thalassemia major (typical in some coastal areas of the Mediterranean), Senile TTR cardiac amyloidosis, Cardiomyopathy secondary to Radiotherapy, Myocardial Endofibrosis in some African populations.
It can also be a consequence of the evolution of the HCM with progressive reduction of the thickness of the hypertrophic wall and increase in fibrosis.
It is often associated with arrhythmias, particularly Atrial fibrillation and embolisms if effective anticoagulation is not carried out, and presents a clear reduction in effort capacity, manifested by fatigue ("asthenia") and shortness of breath with mild exertion (Class III and IV), heart failure and even sudden death.
RCM usually presents a progression of symptoms and clinical picture and the indication for a heart transplant is frequent.
Healthy heart
Heart with restrictive cardiomyopathy
Restrictive cardiomyopathy: The size of the right or left ventricular cavities is reduced
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 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.
Treatment and management
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.
