Morpho-functional Cardiac Modifications in Treated Mutated Transthyretin Cardiac Amyloidosis
Morpho-functional Cardiac Modifications in Treated Mutated Transthyretin Cardiac Amyloidosis
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.
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).
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)