Cardiac amyloidosis

THEAmyloidosis is a complex disease

characterized by deposit between the cells of the heart di insoluble aggregates di abnormally shaped proteins. It can also be hereditary.

there different forms of amyloidosis, each of which is due to a specific defective protein, which may be of interest numerous organs, in particular heart, kidneys e nervous system.

Cardiac involvement has various forms, but two are the main ones:

1] AL amyloidosis, shape non-hereditary systemic, often due to the excess protein production from an blood marrow cancer (Myeloma)

2] ATTR amyloidosis (from transthyretin) a protein produced by the liver which carries in the blood the retinol and thyroid hormones.

Transthyretin-related TTR amyloidosis occurs in 2 forms:

1] a shape non-hereditary that interests almost always only the heart, in subjects of aged over 60, also called senile cardiac amyloidosis o wild type.

2] a shape hereditary in which amyloid deposits, in close relationship to the type of genetic mutation, may be of interest to the the heart or peripheral nervous system o both districts. It begins to manifest itself after the age of 40.

La deposition of amyloid fibrils between the heart cells is progressive and involves a increased thickness of the heart walls, including the atria, which simulate the Hypertrophic Cardiomyopathy (HCM).amyloid harms progressively the functioning of the heart cellsThe walls become more rigid and their release is very slow ("Diastolic dysfunction") and finally also the contraction force ("Systolic dysfunction") is reduced. Symptoms such as palpitations e dyspnea, absent at the beginning, I am progressive, with the appearance of atrial and ventricular arrhythmias up to congestive heart failure.

In last years, With the 'increase in knowledge and diagnostic tools, such as bone tracer scintigraphy genetic analysis and Strain with Echocardiography, it is possible to distinguish HCM laid down by the ATTR amyloidosis, both in form senile in that hereditary.

In patients of age over 60 years e HCM ATTR amyloidosis it's an illness anything but rare.

The importance of genetic analysis

THEgenetic analysis of the patient with Amyloidosis allows you to identify the hereditary form and to evaluate whether this is also present in the family. This can allow for a innovative therapy drugs that they can block development of the deposits of Amyloid and the subsequent ones complications.

In Italy There are areas (e.g. Tuscan-Romagnolo Apennines) where hereditary Hereditary TTR amyloidosis, is more frequently, due to a specific mutation transmitted by centuries in hereditary route.