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General description of cardiomyopathy
In approximately 50% of patients, CMD has a genetic cause, and in approximately 25% it is caused by mutations in the gene for titin, an important cardiac protein, which can be analyzed with NGS genetic analysis. In other patients, it is caused by mutations in genes that produce sarcomeric proteins (e.g., myosin, myosin-binding protein C, troponin), which in this case are responsible for dilation rather than hypertrophy. Some patients have mutations in lamin A/C, desmoplakin, or ion channels, all of which are more likely to develop complications such as life-threatening arrhythmias (tachycardia and/or ventricular fibrillation).
When other family members of the patient have had or have cardiomyopathy, heart failure, or even sudden death at a young age, CMD is likely genetically caused. In these patients, genetic testing is essential to identify the mutation and the causative gene, allowing for more targeted and effective therapy.
A form of CMD is also often present in patients who have genetic “neuromuscular” diseases, such as dystrophies (for example Duchenne muscular dystrophy).
But dilated cardiomyopathy can also have many other causes:
chemotherapy and / or radiotherapy to treat cancer
exposure to toxic substances, such as alcohol abuse
fast and prolonged supraventricular / ventricular arrhythmias ("tachycardiomyopathy")
from food deficiency, (e.g. in patients with "anorexia" or during a famine)
after childbirth ("postpartum")
autoimmune diseases (e.g. rheumatoid arthritis, etc)
or from nutritional deficiency, are reversible.
Dilated cardiomyopathy (DCM) is a disease of the myocardium characterized by dilation of the left ventricle (LV) and/or reduction in its force of contraction (“systolic dysfunction”) or relaxation (“diastolic dysfunction”).
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:
Therapy
From the Video Library of the Heart
Video insights on therapies
See also the following sections
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.
