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However, the disease can go unnoticed and be discovered fortuitously during a routine exam. Speaking, even for moderate efforts, is a frequent symptom that considerably affects quality of life. A late diagnosis exposes to the risk of sudden death by brutal arrhythmia, a risk that early diagnosis can prevent.
Family screening
The diagnosis is based on examinations such as electrocardiogram and cardiac ultrasound, sometimes supplemented by an MRI. However, the CMH can be confused with hypertrophy due to high blood pressure, hence the importance of a specialized opinion. Faced with an unexplained shortness of breath or loss of consciousness on the effort, it is crucial to consult a specialist to seek a possible CMH.
“In the event of a diagnosis, it is crucial to offer a systematic family assessment. »»
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The hereditary character of the disease makes family screening by cardiological assessment and genetic testing, as first degree related risk has a high risk of the mutation. Professor Charron insists: “In the event of a diagnosis, it is crucial to offer a systematic family assessment. »»
Expert centers for optimal care
More than thirty expert centers in France, labeled by the Ministry of Health, are dedicated to the CMH. These centers bring together specialists capable of adapting treatments, organizing family screening and carrying out the necessary genetic tests. They offer multidisciplinary support to patients, general practitioners and cardiologists.
Psychological support is also offered, because stress linked to diagnosis and the risk of genetic transmission can be significant. It is crucial to diagnose the disease because treatments exist to improve the quality of life and the prognosis of patients.
Recent drugs relieve symptoms, and more complex interventions or a preventive defibrillator can be considered in some cases. For more information, the Filiere-Cardiogen.fr site is a useful resource.
