Genotype, echocardiography, and survival in familial transthyretin amyloidosis

References

• Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Engl J Med 1997;337:898–909
   PubMed Web of Science ®Google Scholar
• Shah KB, Inoue Y, Mehra MR. Amyloidosis and the heart: a comprehensive review. Arch Intern Med 2006;166:1805–13
   PubMed Web of Science ®Google Scholar
• Selvanayagam JB, Hawkins PN, Paul B, Myerson SG, Neubauer S. Evaluation and management of the cardiac amyloidosis. J Am Coll Cardiol 2007;50:2101–10
   PubMed Web of Science ®Google Scholar
• Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–23
   PubMed Web of Science ®Google Scholar
• Okamoto S, Zhao Y, Lindqvist P, Backman C, Ericzon BG, Wijayatunga P, Henein MY, et al. Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients. Amyloid 2011;18:200–5
   PubMed Web of Science ®Google Scholar
• Gertz MA, Lacy MQ, Dispenzieri A. Amyloidosis: recognition, confirmation, prognosis, and therapy. Mayo Clin Proc 1999;74:490–4
   PubMed Web of Science ®Google Scholar
• Kyle RA, Greipp PR. Amyloidosis (AL). Clinical and laboratory features in 229 cases. Mayo Clin Proc 1983;58:665–83
   PubMed Web of Science ®Google Scholar
• Gertz MA, Comenzo R, Falk RH, Fermand JP, Hazenberg BP, Hawkins PN, Merlini G, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol 2005;79:319–28
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 2009;120:1203–12
   PubMed Web of Science ®Google Scholar
• Bellavia D, Abraham TP, Pellikka PA, Al-Zahrani GB, Dispenzieri A, Oh JK, Bailey KR, et al. Detection of left ventricular systolic dysfunction in cardiac amyloidosis with strain rate echocardiography. J Am Soc Echocardiogr 2007;20:1194–202
   PubMed Web of Science ®Google Scholar
• Connors LH, Prokaeva T, Lim A, Theberge R, Falk RH, Doros G, Berg A, et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009;158:607–14
   PubMed Web of Science ®Google Scholar
• Ferlini A, Fini S, Salvi F, Patrosso MC, Vezzoni P, Forabosco A. Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J 1992;6:2864–6
   PubMed Web of Science ®Google Scholar
• Arbustini E, Verga L, Concardi M, Palladini G, Obici L, Merlini G. Electron and immuno-electron microscopy of abdominal fat identifies and characterizes amyloid fibrils in suspected cardiac amyloidosis. Amyloid 2002;9:108–14
   PubMed Web of Science ®Google Scholar
• Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440–63
   PubMed Web of Science ®Google Scholar
• Quinones MA, Waggoner AD, Reduto LA, Nelson JG, Young JB, Winters WL, Jr Ribeiro LG, et al. A new, simplified and accurate method for determining ejection fraction with two-dimensional echocardiography. Circulation 1981;64:744–53
   PubMed Web of Science ®Google Scholar
• Amico AF, Lichtenberg GS, Reisner SA, Stone CK, Schwartz RG, Meltzer RS. Superiority of visual versus computerized echocardiographic estimation of radionuclide left ventricular ejection fraction. Am Heart J 1989;118:1259–65
   PubMed Web of Science ®Google Scholar
• Lester SJ, Tajik AJ, Nishimura RA, Oh JK, Khandheria BK, Seward JB. Unlocking the mysteries of diastolic function: deciphering the Rosetta Stone 10 years later. J Am Coll Cardiol 2008;51:679–89
   PubMed Web of Science ®Google Scholar
• Redfield MM, Jacobsen SJ, Burnett JC, Jr., Mahoney DW, Bailey KR, Rodeheffer RJ. Burden of systolic and diastolic ventricular dysfunction in the community: appreciating the scope of the heart failure epidemic. JAMA 2003;289:194–202
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol 2010;7:398–408
   PubMed Web of Science ®Google Scholar
• Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 1995;59:45–9
   PubMed Web of Science ®Google Scholar
• Coelho T, Maurer MS, Suhr OB. THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin 2013;29:63–76
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Perugini E, Salvi F, Grigioni F, Riva L, Cooke RM, Ferlini A, et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 2006;13:143–53
   PubMed Web of Science ®Google Scholar
• Buxbaum J, Alexander A, Koziol J, Tagoe C, Fox E, Kitzman D. Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. Am Heart J 2010;159:864–70
   PubMed Web of Science ®Google Scholar
• Ruberg FL, Maurer MS, Judge DP, Zeldenrust S, Skinner M, Kim AY, Falk RH, et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012;164:222–8 e1
   PubMed Web of Science ®Google Scholar
• Sattianayagam PT, Hahn AF, Whelan CJ, Gibbs SD, Pinney JH, Stangou AJ, Rowczenio D, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J 2012;33:1120–7
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013;34:520–8
   PubMed Web of Science ®Google Scholar