Amyloid diseases of the heart: Assessment, diagnosis, and referral

Heart

Volumn 97, Issue 1, 2011, Pages 75-84

  Dubrey, Simon W ^a   Hawkins, P N ^b   Falk, R H ^c  

^a HILLINGDON HOSPITAL   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c HARVARD VANGUARD MEDICAL ASSOCIATES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; HEART AMYLOIDOSIS; HUMAN; PATIENT ASSESSMENT; PATIENT REFERRAL; PRIORITY JOURNAL; REVIEW;

AMYLOID; AMYLOIDOSIS; BIOPSY, NEEDLE; BLOOD PROTEINS; CARDIOMYOPATHIES; DIAGNOSIS, DIFFERENTIAL; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MUTATION; MYOCARDIUM; REFERRAL AND CONSULTATION;

EID: 78651246173     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2009.190405     Document Type: Review

References (19)

1. Gertz MA, Comenzo R, Falk RH, 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. An important consensus statement concerning the definitions for organ involvement which also defines thresholds for whether an organ system has responded to treatment.
2. Kristen AV, Perz JB, Schonland SO, et al. Rapid progression of left ventricular wall thickness predicts mortality in cardiac light-chain amyloidosis. Eur J Heart Fail 2007;9:617-24.
3. Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 2002;346:1786-91. This paper highlights the issues that we address in our article concerning the ease with which patients can be misdiagnosed and, as a result, receive not only inappropriate but harmful treatment.
4. Selvanayagam JB, Hawkins PN, Biju P, et al. Evaluation and management of the cardiac amyloidosis. J Am Coll Cardiol 2007;50:2101-10.
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6. Dubrey SW, Cha K, Anderson J, et al. The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 1998;91:141-57. A large review that details the presenting features and clinical findings in light chain (AL) amyloid heart disease.
7. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 1995;32:45-9. This is the largest published series that summarises the clinical features of patients with AL amyloid.
8. Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Engl J Med 1997;337:898-909. A comprehensive and extensive review of the major amyloid diseases.
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13. Jacobson DR, Pastore RD, Yaghoubian R, et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997;336:466-73. An important contribution, indicating that up to 4% of African American patients carry a gene for one particular type of transthyretin mutation, that may result in amyloid heart disease.
14. Westermark P, Sletten K, Johansson B, et al. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci U S A 1990;87:2843-5. > This paper not only identified wild type (non-mutant) transthyretin as the protein sub-unit in senile systemic amyloidosis, but contributes to our understanding of disease progression (with wild type transthyretin) following theoretical curative liver transplantation in some forms of hereditary amyloidosis.
15. Connors LH, Lim A, Prokaeva T, et al. Guidelines on the diagnosis and management of AL amyloidosis. Br J Haematol 2004;125:681-700.
16. Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005;112:2047-60. One of the most recent comprehensive reviews of the management of patients with amyloid heart disease. Well illustrated and extensively referenced.
17. Hawkins PN, Lavender JP, Pepys MB. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 1990;323:508-13. This paper details one of the most useful screening tools available for determining the whole body load of amyloid deposition. Its disadvantage is that technical reasons prevent it being used to assess heart involvement.
18. Dubrey SW, Cha K, Skinner M, et al. Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes. Heart 1997;78:74-82.
19. Maceira AM, Prasad SK, Hawkins PN, et al. Cardiovascular magnetic resonance and prognosis in cardiac amyloidosis. J Cardiovasc Magn Reson 2008;10:54.