Cardiac amyloidosis diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]; Aarti Narayan, M.B.B.S [3]
Overview
A cardiac biopsy that reveals amyloid, confirms the diagnosis. Biopsy of other tissues may also confirm the diagnosis of a systemic involvement. Amyloidosis is frequently confirmed by biopsy of abdominal fat, rectal submucosa, kidney, or bone marrow.
Diagnostic Study of Choice
Study of Choice
Cardiac Biopsy
Biopsy is a standard diagnostic test in the evaluation of cardiac amyloidosis. Biopsied tissue is stained with amyloid specific stains to quantify the extent of involvement.[1][2][3][4]
- Congo red staining of the specimen appears as an amorphous pink deposit under light microscopy and as green-apple birefringence under polarized microscopy.
- An alternative stain is highly amyloid specific Alcian blue which produces a green color on staining.
- Immunostaining of the biopsy specimen is required to identify the deposited protein and to differentiate between ATTR and AL types of cardiac amyloidosis.
- Electron microscopic examination of the amyloid deposits appears as non-branching fibrils.
- Proteomic typing of amyloid by mass spectrometry usually provides definitive results. [5]
- In patients with known amyloid deposits in other organs, it may be unclear, if the cause for ventricular thickening is either a poorly controlled hypertension or actual infiltration of the muscle by the amyloid. In such cases endomyocardial biopsy may prove beneficial in differentiating the two conditions.
Advantages
- Most accurate with a sensitivity approaching 100%
- Safe in experienced hands
Disadvantages
- Invasive
- Expensive
- Lack of availability
- Complications, such as perforation
References
- ↑ Pellikka PA, Holmes DR, Edwards WD, Nishimura RA, Tajik AJ, Kyle RA (1988). "Endomyocardial biopsy in 30 patients with primary amyloidosis and suspected cardiac involvement". Archives of Internal Medicine. 148 (3): 662–6. PMID 3341867. Unknown parameter
|month=ignored (help) - ↑ Ardehali H, Qasim A, Cappola T; et al. (2004). "Endomyocardial biopsy plays a role in diagnosing patients with unexplained cardiomyopathy". American Heart Journal. 147 (5): 919–23. doi:10.1016/j.ahj.2003.09.020. PMID 15131552. Unknown parameter
|month=ignored (help) - ↑ Pomerance A, Slavin G, McWatt J (1976). "Experience with the sodium sulphate-Alcian Blue stain for amyloid in cardiac pathology". Journal of Clinical Pathology. 29 (1): 22–6. PMC 475937. PMID 55419. Unknown parameter
|month=ignored (help) - ↑ Gertz MA, Grogan M, Kyle RA, Tajik AJ (1997). "Endomyocardial biopsy-proven light chain amyloidosis (AL) without echocardiographic features of infiltrative cardiomyopathy". The American Journal of Cardiology. 80 (1): 93–5. PMID 9205031. Unknown parameter
|month=ignored (help) - ↑ Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR, Dogan A (2009). "Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens". Blood. 114 (24): 4957–9. doi:10.1182/blood-2009-07-230722. PMID 19797517. Unknown parameter
|month=ignored (help)