Morpho-functional Cardiac Modifications in Treated Mutated Transthyretin Cardiac Amyloidosis

Study Overview
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Brief Summary
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Cardiac Amyloidosis (CA) is characterized by a long subclinical phase characterized by deposition of amyloid fibrils in atria, valves and walls of ventricles. Longitudinal dysfunction of the left ventricle (LV) with preserved ejection fraction (EF) is the early phase of CA. Longitudinal dysfunction mainly involves the LV basal and middle segments with less involvement of the distal segments (apical sparing). Strain echocardiography (STE) measures myocardial deformation. The technique has been shown to be sensitive for early detection of impaired systolic function and for the study of CA. Additionally, cardiac efficiency (myocardial work) can be derived from myocardial strain data analysis. In the year 2018, RNA interferences (patisiran and inotersen) were included in the list of compassionate therapeutic use programs for exclusive use for the treatment of adult patients with hereditary amyloidosis neuropathy. The aim of our study is to evaluate the morpho-functional modifications with RNA interferences.

Detailed Description
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Transthoracic echocardiographic images are recorded in the available ultrasound units (Vivid 7 and Vivid 9, GE Ultrasound, Horten, Norways and MyLab - Esaote, Genoa, Italy). The diameters and the wall thicknesses are measured according to the insurance of the American Society of Echocardiography. The images obtained with apical view and in format 4 bedrooms with frame rates (70-80 frames / s) - stored for three cardiac cycles in cine-loop format - will be used for evaluate off-line to evaluate left ventricle deformation in the longitudinal and radial direction, basalelateral, and top segments (post processing) through software already in use and available (Suitestenza, Esaote, Florence, Italy and GE Ultrasound, Horten, Norway).

Official Title
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Cardiac Modifications in Transthyretin Cardiac Amyloidosis

Conditions
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Cardiac Amyloidosis

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: presence of data obtained from historical records of patients who retrospectively met the prescriptive (neurological) criteria and received the prescription of the drugs in question (RNA interferences) having Cardiological evaluation (examination ECG, echocardiography) at the time of prescription Cardiological evaluation (examination ECG, echocardiography) evaluated six months after therapy, Cardiological evaluation (examination ECG, echocardiography) evaluated 12-18 months after therapy, Exclusion Criteria: it wasn't possible to putatively confirm the reasonable shipment of the innovative therapy prescribed it wasn't possible to putatively confirm the reasonable shipment of conventional therapy prescribed (background therapy)

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of Atrial and Ventricular Walls Dimensions | Measurements (mm) of Interatrial Septum, Ventricular Walls, Coumadin Ridge, Mitro-aortic Lamina, Valves | Change from Baseline Wall Thickness to 18 months | 
| Change of Atrial and Ventricular Strain | Mean paired change in myocardial strain (percent) by echocardiographic strain-rate imaging (unitless) | Change from Baseline Atrial and Ventricular Strain to 18 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of Myocardial Work index of Left Ventricle | Evaluation of the Global work index (GWI): total work within the area of the LV pressure-strain loops calculated from mitral valve closure to mitral valve opening. | Change from Baseline Myocardial work to 18 months |