title: Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review.
abstract: We report the fourth case of transthyretin amyloidosis (ATTR) Ser23Asn in a 41-year-old Ecuadorian male. He has a pedigree that spans seven generations and involves 24 family members who suffered early cardiac death. Salient presenting symptoms were fatigue, shortness of breath, and peripheral neuropathy. The diagnosis of cardiac amyloid was confirmed by immunohistochemical staining of an endomyocardial biopsy, genotyping and by technetium pyrophosphate ((99m)Tc-PYP) scintigraphy, which remains to be established as a reliable tool to visualize myocardial amyloid involvement in patients with the Ser23Asn transthyretin (TTR) variant. The patient underwent successful combined heart and liver transplant. We add to the current ATTR literature that in patients with the rare Ser23Asn mutation, peripheral nerve in addition to cardiac involvement can occur and (99m)Tc-PYP scintigraphy can be used as an imaging modality to visualize myocardial amyloid.
authors.affiliation: Department of Medicine.
authors.forename: Adam
authors.initials: A
authors.lastname: Castaño
authors.forename: Sabahat
authors.initials: S
authors.lastname: Bokhari
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Brannagan
authors.forename: Julia
authors.initials: J
authors.lastname: Wynn
authors.forename: Mathew S
authors.initials: MS
authors.lastname: Maurer
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D006321:Heart / Q000000981:diagnostic imaging*; D016027:Heart Transplantation; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D020125:Mutation, Missense; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism; D011877:Radionuclide Imaging; D016698:Technetium Tc 99m Pyrophosphate
chemical_list: D011228:Prealbumin; D016698:Technetium Tc 99m Pyrophosphate