Morpho-functional Cardiac Modifications in Treated Mutated Transthyretin Cardiac Amyloidosis

University of Messina

Status: Unknown

Conditions: Cardiac Amyloidosis

Study type: Observational

Funder types: Other

Identifiers

NCT04387344

UNIME_CARD_2

Details and patient eligibility

About

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.

Full description

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).

Enrollment: 25 estimated patients

Sex: All

Ages: 18 to 90 years old

Volunteers: No Healthy Volunteers

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)