References
- Benson MD. The hereditary amyloidoses. Best Pract Res Clin Rheumatol. 2003;17(6):909–927.
- Merlo M, Pagura L, Porcari A, et al. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from phase 2 of the AC-TIVE study, an italian nationwide survey. Eur J Heart Fail. 2022;24(8):1377–1386.
- Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2022;29(4):213–219.
- Moutafi M, Ziogas DC, Michopoulos S, et al. A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options. BMC Med Genet. 2019;20(1):23.
- Arciello A, Piccoli R, Monti DM. Apolipoprotein A-I: the dual face of a protein. FEBS Lett. 2016;590(23):4171–4179.
- Lu C, Zuo K, Lu Y, et al. Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature. Medicine. 2017;96(39):e8148.
- Rowczenio D, Dogan A, Theis JD, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol. 2011;179(4):1978–1987.
- Colombat M, Aldigier JC, Rothschild PR, et al. New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis. Kidney Int. 2020;98(1):195–208.
- Hamidi Asl K, Liepnieks JJ, Nakamura M, et al. A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun. 1999;257(2):584–588.
- Amarzguioui M, Mucchiano G, Häggqvist B, et al. Extensive intimal apolipoprotein A1-derived amyloid deposits in a patient with an apolipoprotein A1 mutation. Biochem Biophys Res Commun. 1998;242(3):534–539.
- Obici L, Bellotti V, Mangione P, et al. The new apolipoprotein A-I variant leu(174) –> ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. Am J Pathol. 1999;155(3):695–702.
- Hazenberg AJ, Dikkers FG, Hawkins PN, et al. Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis. Laryngoscope. 2009;119(3):608–615.
- Obici L, Palladini G, Giorgetti S, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology. 2004;126(5):1416–1422.
- Gregorini G, Izzi C, Ravani P, et al. Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. Kidney Int. 2015;87(6):1223–1229.
- Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr. 2015;28(1):1–39.e14.
- Nagueh SF, Smiseth OA, Appleton CP, et al. Recommendations for the evaluation of left ventricular diastolic function by echocardiography: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr. 2016;29(4):277–314.
- Phelan D, Collier P, Thavendiranathan P, et al. Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart. 2012;98(19):1442–1448.
- Geenty P, Sivapathan S, Stefani LD, et al. Left ventricular mass-to-strain ratio predicts cardiac amyloid subtype. JACC Cardiovasc Imaging. 2021;14(3):690–692.
- Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on myocardial and pericardial diseases. European J Heart Fail. 2021;23(4):512–526.
- Dorbala S, Cuddy S, Falk RH. How to image cardiac amyloidosis: a practical approach. JACC Cardiovasc Imaging. 2020;13(6):1368–1383.
- Martinez-Naharro A, Baksi AJ, Hawkins PN, et al. Diagnostic imaging of cardiac amyloidosis. Nat Rev Cardiol. 2020;17(7):413–426.