Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey)

Journal of the American College of Cardiology

Volumn 68, Issue 2, 2016, Pages 161-172

  Maurer, Mathew S ^a   Hanna, Mazen ^b   Grogan, Martha ^c   Dispenzieri, Angela ^c   Witteles, Ronald ^d   Drachman, Brian ^e   Judge, Daniel P ^f   Lenihan, Daniel J ^g   Gottlieb, Stephen S ^h   Shah, Sanjiv J ⁱ   Steidley, D Eric ^j   Ventura, Hector ^k   Murali, Srinivas ^l   Silver, Marc A ^m   Jacoby, Daniel ⁿ   Fedson, Savitri ^o   Hummel, Scott L ^p,q   Kristen, Arnt V ^r   Damy, Thibaud ^s   Planté Bordeneuve, Violaine ^s   Coelho, Teresa ^t   Mundayat, Rajiv ^u   Suhr, Ole B ^v   Waddington Cruz, Márcia ^w   Rapezzi, Claudio ^x   more..

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c MAYO CLINIC   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF MARYLAND   (United States)

ⁱ NORTHWESTERN UNIVERSITY   (United States)

^j MAYO CLINIC   (United States)

^k JOHN OCHSNER HEART AND VASCULAR INSTITUTE   (United States)

^l ALLEGHENY GENERAL HOSPITAL   (United States)

^m ADVOCATE CHRIST MEDICAL CENTER   (United States)

ⁿ YALE NEW HAVEN HOSPITAL   (United States)

^o UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^p UNIVERSITY OF MICHIGAN   (United States)

^q VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

^r UNIVERSITY OF HEIDELBERG   (Germany)

^s HENRI MONDOR HOSPITAL   (France)

^t HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^u PFIZER INC   (United States)

^v UMEÅ UNIVERSITY   (Sweden)

^w FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^x UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

aging; amyloid; transthyretin

Indexed keywords

PREALBUMIN; AMYLOID; AMYLOID PREALBUMIN;

ADULT; AFRICAN; AGE DISTRIBUTION; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMOGRAPHY; DISEASE ASSOCIATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HEART AMYLOIDOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MEAN ARTERIAL PRESSURE; MORTALITY; MULTICENTER STUDY; MUTATION; PAIN; PARESTHESIA; PRIORITY JOURNAL; QUALITY OF LIFE; SEX RATIO; SKIN TINGLING; SURVIVAL RATE; UNITED STATES; WALKING DIFFICULTY; WILD TYPE; AMYLOID NEUROPATHIES, FAMILIAL; CARDIOMYOPATHIES; CLINICAL TRIAL; GENETICS; GENOTYPE; INCIDENCE; METABOLISM; MIDDLE AGED; PHENOTYPE; PROGNOSIS; QUESTIONNAIRE; REGISTER; TRENDS;

AGED; AMYLOID; AMYLOID NEUROPATHIES, FAMILIAL; CARDIOMYOPATHIES; FEMALE; GENOTYPE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREALBUMIN; PROGNOSIS; REGISTRIES; SURVEYS AND QUESTIONNAIRES; SURVIVAL RATE; UNITED STATES;

EID: 84990189506     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2016.03.596     Document Type: Article

References (41)

1. 1 Falk, R.H., Comenzo, R.L., Skinner, M., The systemic amyloidoses. N Engl J Med 337 (1997), 898–909.
2. 2 Hammarstrom, P., Wiseman, R.L., Powers, E.T., Kelly, J.W., Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science 299 (2003), 713–716.
3. 3 Connors, L.H., Lim, A., Prokaeva, T., Roskens, V.A., Costello, C.E., Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 10 (2003), 160–184.
4. 4 Zeldenrust, S.R., ATTR: Diagnosis, prognosis and treatment. Amyloidosis: Diagnosis and Treatment, 2010, Humana Press, Springer Science, Business Media LLC, New York, NY, 191–204.
5. 5 Buxbaum, J.N., Tagoe, C.E., The genetics of the amyloidoses. Annu Rev Med 51 (2000), 543–569.
6. 6 Benson, M.D., Kincaid, J.C., The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36 (2007), 411–423.
7. 7 Rapezzi, C., Quarta, C.C., Obici, L., et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 34 (2013), 520–528.
8. 8 Plante-Bordeneuve, V., Suhr, O.B., Maurer, M.S., White, B., Grogan, D.R., Coelho, T., The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. Curr Med Res Opin 29 (2013), 77–84.
9. 9 Vinik, E.J., Hayes, R.P., Oglesby, A., et al. The development and validation of the Norfolk QOL-DN, a new measure of patients’ perception of the effects of diabetes and diabetic neuropathy. Diabetes Technol Ther 7 (2005), 497–508.
10. 10 Karnofsky, D.A., Buchenal, J.H., The clinical evaluation of chemotherapeutic agents in cancer. MacLeod, C.M., (eds.) Evaluation of chemotherapeutic agents, 1949, Columbia University Press, New York, NY, 191–205.
11. 11 Suhr, O., Danielsson, A., Holmgren, G., Steen, L., Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med 235 (1994), 479–485.
12. 12 Lang, R.M., Bierig, M., Devereux, R.B., 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 18 (2005), 1440–1463.
13. 13 de Simone, G., Devereux, R.B., Ganau, A., et al. Estimation of left ventricular chamber and stroke volume by limited M-mode echocardiography and validation by two-dimensional and Doppler echocardiography. Am J Cardiol 78 (1996), 801–807.
14. 14 Devereux, R.B., Alonso, D.R., Lutas, E.M., et al. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 57 (1986), 450–458.
15. 15 King, D.L., El-Khoury Coffin, L., Maurer, M.S., Myocardial contraction fraction: a volumetric index of myocardial shortening by freehand three-dimensional echocardiography. J Am Coll Cardiol 40 (2002), 325–329.
16. 16 Tendler, A., Helmke, S., Teruya, S., Alvarez, J., Maurer, M.S., The myocardial contraction fraction is superior to ejection fraction in predicting survival in patients with AL cardiac amyloidosis. Amyloid 22 (2015), 61–66.
17. 17 Zhen, D.B., Swiecicki, P.L., Zeldenrust, S.R., Dispenzieri, A., Mauermann, M.L., Gertz, M.A., Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis. Clin Genet 88 (2014), 396–400.
18. 18 Duston, M.A., Skinner, M., Meenan, R.F., Cohen, A.S., Sensitivity, specificity, and predictive value of abdominal fat aspiration for the diagnosis of amyloidosis. Arthritis Rheum 32 (1989), 82–85.
19. 19 Gonzalez-Lopez, E., Gallego-Delgado, M., Guzzo-Merello, G., et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 36 (2015), 2585–2594.
20. 20 Mohammed, S.F., Mirzoyev, S.A., Edwards, W.D., et al. Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. J Am Coll Cardiol HF 2 (2014), 113–122.
21. 21 Givens, R.C., Russo, C., Green, P., Maurer, M.S., Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. Aging Health 9 (2013), 229–235.
22. 22 Cyrille, N.B., Goldsmith, J., Alvarez, J., Maurer, M.S., Prevalence and Prognostic Significance of Low QRS Voltage Among the Three Main Types of Cardiac Amyloidosis. Am J Cardiol 114 (2014), 1089–1093.
23. 23 Guy, C.D., Jones, C.K., Abdominal fat pad aspiration biopsy for tissue confirmation of systemic amyloidosis: specificity, positive predictive value, and diagnostic pitfalls. Diagn Cytopathol 24 (2001), 181–185.
24. 24 Halloush, R.A., Lavrovskaya, E., Mody, D.R., Lager, D., Truong, L., Diagnosis and typing of systemic amyloidosis: the role of abdominal fat pad fine needle aspiration biopsy. Cytojournal, 6, 2010, 24.
25. 25 Coelho, T., Maia, L.F., da Silva, A.M., et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 260 (2013), 2802–2814.
26. 26 Coelho, T., Maia, L.F., Martins da Silva, A., et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 79 (2012), 785–792.
27. 27 Coelho, T., Adams, D., Silva, A., et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 369 (2013), 819–829.
28. 28 Benson, M.D., Kluve-Beckerman, B., Zeldenrust, S.R., et al. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve 33 (2006), 609–618.
29. 29 Perugini, E., Guidalotti, P.L., Salvi, F., et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 46 (2005), 1076–1084.
30. 30 Rapezzi, C., Quarta, C.C., Guidalotti, P.L., et al. Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging 38 (2011), 470–478.
31. 31 Hutt, D.F., Quigley, A.M., Page, J., et al. Utility and limitations of 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in systemic amyloidosis. Eur Heart J Cardiovasc Imaging 15 (2014), 1289–1298.
32. 32 Glaudemans, A.W., van Rheenen, R.W., van den Berg, M.P., et al. Bone scintigraphy with (99m)technetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis. Amyloid 21 (2014), 35–44.
33. 33 Bokhari, S., Castano, A., Pozniakoff, T., Deslisle, S., Latif, F., Maurer, M.S., (99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging 6 (2013), 195–201.
34. 34 Rapezzi, C., Quarta, C.C., Guidalotti, P.L., et al. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. J Am Coll Cardiol Img 4 (2011), 659–670.
35. 35 Longhi, S., Guidalotti, P.L., Quarta, C.C., et al. Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. J Am Coll Cardiol Img 7 (2014), 531–532.
36. 36 Gorevic, P.D., Prelli, F.C., Wright, J., Pras, M., Frangione, B., Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest 83 (1989), 836–843.
37. 37 Jacobson, D.R., Pastore, R.D., Yaghoubian, R., et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 336 (1997), 466–473.
38. 38 Jacobson, D.R., Alexander, A.A., Tagoe, C., Buxbaum, J.N., Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid 22 (2015), 171–174.
39. 39 Quarta, C.C., Buxbaum, J.N., Shah, A.M., et al. The amyloidogenic V122I transthyretin variant in elderly black Americans. N Engl J Med 372 (2015), 21–29.
40. 40 Carr, A.S., Pelayo-Negro, A.L., Jaunmuktane, Z., et al. Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord 25 (2015), 511–515.
41. 41 Ericzon, B.G., Wilczek, H.E., Larsson, M., et al. Liver transplantation for hereditary transthyretin amyloidosis: After 20 years still the best therapeutic alternative?. Transplantation 99 (2015), 1847–1854.