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. 1997 Jul;78(1):74–82. doi: 10.1136/hrt.78.1.74

Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes.

S W Dubrey 1, K Cha 1, M Skinner 1, M LaValley 1, R H Falk 1
PMCID: PMC484868  PMID: 9290406

Abstract

OBJECTIVE: To determine whether patients with myocardial amyloidosis due either to AL (primary) amyloid or familial amyloid have distinguishing echocardiographic or electrocardiographic features; and to compare the prevalence of heart failure and survival in the two types of amyloidosis in relation to echocardiographic findings. DESIGN: Blinded group comparison of randomly selected cases of cardiac amyloidosis. SETTING: International referral centre for amyloid research and treatment. PATIENTS: 36 patients with cardiac amyloid heart disease, of whom 12 had familial and 24 had primary AL amyloidosis. RESULTS: Familial and AL echocardiograms were morphologically indistinguishable, with similar left ventricular wall thickness, mean (SD) 15.4 (2.3) nu 15.8 (2.5) mm, respectively; right ventricular wall thickness was also similar between amyloid types: 9.6 (2.8) nu 9.7 (6.5) mm, respectively. Doppler indices of left and right ventricular function, left ventricular volume, and ejection fraction were also similar. Low voltage electrocardiograms (< 0.5 mV) were more common in the AL (16/24, 67%) than in the familial group (4/12, 25%), P < 0.05. The one year survival for familial and AL forms was 92% (11/12) nu 38% (6/24), respectively, with virtually all deaths due to cardiac causes. CONCLUSIONS: Although cardiac involvement is echocardiographically indistinguishable, cardiac mortality is very different between the two forms of amyloidosis. Preservation of electrocardiographic voltage in familial amyloidosis suggests that the particular biochemical characteristics of distinct types of amyloid fibril have different pathological effects on the myocardium. This distinction becomes critical in the evaluation, treatment, and management of patients who have a diagnosis within the spectrum of the protein deposition diseases.

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Selected References

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  1. ANDRADE C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952 Sep;75(3):408–427. doi: 10.1093/brain/75.3.408. [DOI] [PubMed] [Google Scholar]
  2. Appleton C. P., Hatle L. K., Popp R. L. Demonstration of restrictive ventricular physiology by Doppler echocardiography. J Am Coll Cardiol. 1988 Apr;11(4):757–768. doi: 10.1016/0735-1097(88)90208-2. [DOI] [PubMed] [Google Scholar]
  3. Backman C., Olofsson B. O. Echocardiographic features in familial amyloidosis with polyneuropathy. Acta Med Scand. 1983;214(4):273–278. doi: 10.1111/j.0954-6820.1983.tb10634.x. [DOI] [PubMed] [Google Scholar]
  4. Benjamin E. J., Levy D., Anderson K. M., Wolf P. A., Plehn J. F., Evans J. C., Comai K., Fuller D. L., Sutton M. S. Determinants of Doppler indexes of left ventricular diastolic function in normal subjects (the Framingham Heart Study). Am J Cardiol. 1992 Aug 15;70(4):508–515. doi: 10.1016/0002-9149(92)91199-e. [DOI] [PubMed] [Google Scholar]
  5. Carroll J. D., Gaasch W. H., McAdam K. P. Amyloid cardiomyopathy: characterization by a distinctive voltage/mass relation. Am J Cardiol. 1982 Jan;49(1):9–13. doi: 10.1016/0002-9149(82)90270-3. [DOI] [PubMed] [Google Scholar]
  6. Cueto-Garcia L., Reeder G. S., Kyle R. A., Wood D. L., Seward J. B., Naessens J., Offord K. P., Greipp P. R., Edwards W. D., Tajik A. J. Echocardiographic findings in systemic amyloidosis: spectrum of cardiac involvement and relation to survival. J Am Coll Cardiol. 1985 Oct;6(4):737–743. doi: 10.1016/s0735-1097(85)80475-7. [DOI] [PubMed] [Google Scholar]
  7. Dubrey S., Pollak A., Skinner M., Falk R. H. Atrial thrombi occurring during sinus rhythm in cardiac amyloidosis: evidence for atrial electromechanical dissociation. Br Heart J. 1995 Nov;74(5):541–544. doi: 10.1136/hrt.74.5.541. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Eriksson P., Backman C., Bjerle P., Eriksson A., Holm S., Olofsson B. O. Non-invasive assessment of the presence and severity of cardiac amyloidosis. A study in familial amyloidosis with polyneuropathy by cross sectional echocardiography and technetium-99m pyrophosphate scintigraphy. Br Heart J. 1984 Sep;52(3):321–326. doi: 10.1136/hrt.52.3.321. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Falk R. H., Plehn J. F., Deering T., Schick E. C., Jr, Boinay P., Rubinow A., Skinner M., Cohen A. S. Sensitivity and specificity of the echocardiographic features of cardiac amyloidosis. Am J Cardiol. 1987 Feb 15;59(5):418–422. doi: 10.1016/0002-9149(87)90948-9. [DOI] [PubMed] [Google Scholar]
  10. Gertz M. A., Kyle R. A., Thibodeau S. N. Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin Proc. 1992 May;67(5):428–440. doi: 10.1016/s0025-6196(12)60388-7. [DOI] [PubMed] [Google Scholar]
  11. Hamer J. P., Janssen S., van Rijswijk M. H., Lie K. I. Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis. Eur Heart J. 1992 May;13(5):623–627. doi: 10.1093/oxfordjournals.eurheartj.a060225. [DOI] [PubMed] [Google Scholar]
  12. Holmgren G., Ericzon B. G., Groth C. G., Steen L., Suhr O., Andersen O., Wallin B. G., Seymour A., Richardson S., Hawkins P. N. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet. 1993 May 1;341(8853):1113–1116. doi: 10.1016/0140-6736(93)93127-m. [DOI] [PubMed] [Google Scholar]
  13. Klein A. L., Cohen G. I. Doppler echocardiographic assessment of constrictive pericarditis, cardiac amyloidosis, and cardiac tamponade. Cleve Clin J Med. 1992 May-Jun;59(3):278–290. doi: 10.3949/ccjm.59.3.278. [DOI] [PubMed] [Google Scholar]
  14. Klein A. L., Hatle L. K., Burstow D. J., Seward J. B., Kyle R. A., Bailey K. R., Luscher T. F., Gertz M. A., Tajik A. J. Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol. 1989 Apr;13(5):1017–1026. doi: 10.1016/0735-1097(89)90254-4. [DOI] [PubMed] [Google Scholar]
  15. Kyle R. A., Gertz M. A. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol. 1995 Jan;32(1):45–59. [PubMed] [Google Scholar]
  16. Olofsson B. O., Andersson R., Furberg B. Atrioventricular and intraventricular conduction in familial amyloidosis with polyneuropathy. Acta Med Scand. 1980;208(1-2):77–80. doi: 10.1111/j.0954-6820.1980.tb01155.x. [DOI] [PubMed] [Google Scholar]
  17. Roberts W. C., Waller B. F. Cardiac amyloidosis causing cardiac dysfunction: analysis of 54 necropsy patients. Am J Cardiol. 1983 Jul;52(1):137–146. doi: 10.1016/0002-9149(83)90084-x. [DOI] [PubMed] [Google Scholar]
  18. Simms R. W., Prout M. N., Cohen A. S. The epidemiology of AL and AA amyloidosis. Baillieres Clin Rheumatol. 1994 Aug;8(3):627–634. doi: 10.1016/s0950-3579(05)80119-0. [DOI] [PubMed] [Google Scholar]
  19. Simons M., Isner J. M. Assessment of relative sensitivities of noninvasive tests for cardiac amyloidosis in documented cardiac amyloidosis. Am J Cardiol. 1992 Feb 1;69(4):425–427. doi: 10.1016/0002-9149(92)90250-3. [DOI] [PubMed] [Google Scholar]
  20. de Freitas A. F. The heart in Portuguese amyloidosis. Postgrad Med J. 1986 Jun;62(728):601–605. doi: 10.1136/pgmj.62.728.601. [DOI] [PMC free article] [PubMed] [Google Scholar]

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