title: MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy.
abstract: OBJECTIVE
  The purpose of this study was to evaluate cardiac MRI features in a group of patients with transthyretin familial amyloid polyneuropathy (FAP).
  
  
  METHODS
  Sixteen patients with transthyretin FAP underwent 2D echocardiography with Doppler examination, cardiac MRI, and (99m)Tc-diphosphonate (DPD) scintigraphy. Four patients had peripheral polyneuropathy, three had carpal tunnel syndrome, one patient had symptoms and signs of heart failure, and eight patients had no symptoms but had a family history of FAP. At MRI, cardiac function parameters and delayed contrast enhancement findings were evaluated.
  
  
  RESULTS
  Six patients had cardiac radiotracer uptake at scintigraphy (FAP cardiac group), and 10 patients had no cardiac uptake (FAP noncardiac group). The FAP cardiac group included the four patients with peripheral neuropathy, one patient with carpal tunnel syndrome, and the only patient with heart failure. At MRI, abnormal contrast enhancement was found in all patients with positive scintigraphic findings and in no patient with negative scintigraphic findings. All patients had involvement of the left ventricle and other chambers or structures (atria, right ventricle, tricuspid valve leaflets). Left ventricular contrast enhancement was focal in four patients, subendocardial circumferential in one patient, and diffuse in one patient. The only patient with signs of heart failure had circumferential subendocardial enhancement.
  
  
  CONCLUSIONS
  Cardiac contrast-enhanced MRI can be used to identify cardiac amyloidosis in patients with FAP who do not have clinical signs of heart involvement. In these patients, the typical subendocardial circumferential pattern of contrast enhancement is rare. We observed unusual enhancement patterns as focal or diffuse left ventricular enhancement accompanied by enhancement of the atria, tricuspid valve, or right ventricle.
authors.affiliation: Clinical and Experimental Department of Medicine and Pharmacology, University of Messina, Messina, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Di Bella
authors.forename: Fabio
authors.initials: F
authors.lastname: Minutoli
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Oreto
authors.forename: Scipione
authors.initials: S
authors.lastname: Carerj
authors.forename: Carmelo
authors.initials: C
authors.lastname: Anfuso
authors.forename: Massimo
authors.initials: M
authors.lastname: Russo
authors.forename: Michele
authors.initials: M
authors.lastname: Gaeta
mesh_terms: D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology*; D003287:Contrast Media; D004164:Diphosphonates; D004452:Echocardiography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009942:Organometallic Compounds; D011228:Prealbumin / Q000378:metabolism*; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D017556:Technetium Compounds
chemical_list: D003287:Contrast Media; D004164:Diphosphonates; D009942:Organometallic Compounds; D011228:Prealbumin; D019275:Radiopharmaceuticals; D017556:Technetium Compounds; C090600:gadobutrol; C029045:technetium Tc 99m diphosphonate