Cardiac amyloidosis: many genetic mutations identified


Although it is finally starting to be known to the medical community, this disease remains underdiagnosed and the resulting heart failure is still too often blamed on hypertension.

Cardiac amyloidosis has ethnic specificities which are important, but it remains a disease little known in populations at risk ”, observe the Pr Thibaud Damy, cardiologist coordinator of the amyloidosis network at CHU Henri-Mondor, in Créteil. This pathology is caused by the production of a poorly shaped protein that accumulates in various organs, especially the lining of the heart. Symptoms most often appear after the age of 60, when the buildup of deformed protein hinders organ function.

But, even though it is finally starting to be known to the medical community, amyloidosis remains underdiagnosed and the resulting heart failure is still too often blamed on hypertension and treated with beta blockers, even so. that they have a deleterious effect on these patients.

There are actually several forms of cardiac amyloidosis, the cardiovascular symptoms of which are often accompanied by neuropathic disorders which are sometimes also not very specific.

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