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Amyloid
The Journal of Protein Folding Disorders
Volume 19, 2012 - Issue 4
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Case Reports

A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?

C. Cristina QuartaDepartment of Cardiology, Harvard Vanguard Medical Associates, Brigham and Women’s Hospital Cardiac Amyloidosis Program, Harvard Medical School, Boston, Massachusetts, USA
&
Rodney H. FalkDepartment of Cardiology, Harvard Vanguard Medical Associates, Brigham and Women’s Hospital Cardiac Amyloidosis Program, Harvard Medical School, Boston, Massachusetts, USACorrespondence[email protected]
Pages 204-207 | Received 01 Aug 2012, Accepted 01 Oct 2012, Published online: 05 Nov 2012

References

  • Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003;10:160–184.
  • 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;159:864–870.
  • Jacobson DR, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, Embury SH, et al. Revised transthyretin Ile 122 allele frequency in African-Americans. Hum Genet 1996;98:236–238.
  • Connors LH, Prokaeva T, Lim A, Théberge 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;158:607–614.
  • Zeldenrust SR. Genotype–phenotype correlation in FAP. Amyloid 2012;19 Suppl 1:22–24.
  • Schulze PC, Maurer MS. Transthyretin Val30Met mutation in an African American with cardiac amyloidosis. Congest Heart Fail 2010;16:73–76.
  • Cassereau J, Lavigne C, Letournel F, Ghali A, Verny C, Dubas F, Devière F, Nicolas G. Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. J Peripher Nerv Syst 2008;13:251–254.
  • Dubrey S, Pollak A, Skinner M, Falk RH. Atrial thrombi occurring during sinus rhythm in cardiac amyloidosis: evidence for atrial electromechanical dissociation. Br Heart J 1995;74:541–544.
  • Feng D, Syed IS, Martinez M, Oh JK, Jaffe AS, Grogan M, Edwards WD, et al. Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation 2009;119:2490–2497.

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