Cardiac amyloidosis pathophysiology: Difference between revisions
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=====Acquired monoclonal immunoglobulin light-chain amyloidosis (AL)===== | =====Acquired monoclonal immunoglobulin light-chain amyloidosis (AL)===== | ||
:* | :*The immunoglobulin lights chains of fibrillary deposits are produced by the clonal plasma cells in the bone marrow. | ||
=====Hereditary transthyretin (TTR)-related form (ATTRm)===== | =====Hereditary transthyretin (TTR)-related form (ATTRm)===== | ||
:* | :*Caused by greater than 100 mutations of TTR | ||
:* | :*The protein is synthesized by the liver | ||
=====Non-mutant TTR-related amyloidosis (ATTRwt)===== | =====Non-mutant TTR-related amyloidosis (ATTRwt)===== | ||
:* | :*Also know as ''systemic senile amyloidosis'' | ||
:* | :*Elderly male prepondrance | ||
:* | :*Presence of isolated ventricular amyloid observed in elderly without family history of amyloidosis | ||
:* | :*This deposition has shown to be associated with increased mortality<ref name="pmid918253">{{cite journal |author=Hodkinson HM, Pomerance A |title=The clinical significance of senile cardiac amyloidosis: a prospective clinico-pathological study |journal=[[The Quarterly Journal of Medicine]] |volume=46 |issue=183 |pages=381–7 |year=1977 |month=July |pmid=918253 |doi= |url=http://qjmed.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=918253 |accessdate=2012-02-13}}</ref><ref name="pmid3374172">{{cite journal |author=Lie JT, Hammond PI |title=Pathology of the senescent heart: anatomic observations on 237 autopsy studies of patients 90 to 105 years old |journal=[[Mayo Clinic Proceedings. Mayo Clinic]] |volume=63 |issue=6 |pages=552–64 |year=1988 |month=June |pmid=3374172 |doi= |url= |accessdate=2012-02-13}}</ref> | ||
=====Familial amyloidotic cardiomyopathy===== | =====Familial amyloidotic cardiomyopathy===== | ||
:* | :*Defined as presence of TTR mutation that primarily affects the myocardium and without significant neuropathy.<ref name="pmid10774481">{{cite journal |author=Buxbaum JN, Tagoe CE |title=The genetics of the amyloidoses |journal=[[Annual Review of Medicine]] |volume=51 |issue= |pages=543–69 |year=2000 |pmid=10774481 |doi=10.1146/annurev.med.51.1.543 |url=http://arjournals.annualreviews.org/doi/full/10.1146/annurev.med.51.1.543?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |accessdate=2012-02-13}}</ref> | ||
==Histopathological Findings== | ==Histopathological Findings== |
Revision as of 16:33, 4 May 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor: Lakshmi Gopalakrishnan, M.B.B.S. [2]; Aarti Narayan, M.B.B.S [3]; Raviteja Guddeti, M.B.B.S. [4]
Overview
The characteristic feature of cardiac amyloidosis is abnormal deposition of abnormally folded light chains of several serum proteins, making them insoluble and accumulate in various organs. Involvement of cardiac muscle can lead to heart failure and arrthymias
Pathophysiology
- Amyloidosis is characterized by the deposition and extracellular accumulation of fibrillary proteins, leading to the loss of normal tissue architecture.[1]
- Most frequent types are:
- Acquired monoclonal immunoglobulin light-chain amyloidosis
- Hereditary transthyretin (TTR)-related form
- Non-mutant TTR-related amyloidosis
Acquired monoclonal immunoglobulin light-chain amyloidosis (AL)
- The immunoglobulin lights chains of fibrillary deposits are produced by the clonal plasma cells in the bone marrow.
- Caused by greater than 100 mutations of TTR
- The protein is synthesized by the liver
Familial amyloidotic cardiomyopathy
- Defined as presence of TTR mutation that primarily affects the myocardium and without significant neuropathy.[6]
Histopathological Findings
-
Amyloidosis Lesion In Left Atrium: Gross natural color view of a diagnostic lesion
-
Amyloidosis Lesion In Left Atrium: Gross natural color close-up
-
Heart: Perivascular amyloid, amyloidosis, congo red showing birefringence
-
Heart: Perivascular amyloid, amyloidosis (Hematoxylin and eosin staining)
References
- ↑ Merlini G, Bellotti V (2003). "Molecular mechanisms of amyloidosis". The New England Journal of Medicine. 349 (6): 583–96. doi:10.1056/NEJMra023144. PMID 12904524. Retrieved 2012-02-13. Unknown parameter
|month=
ignored (help) - ↑ Falk RH, Comenzo RL, Skinner M (1997). "The systemic amyloidoses". The New England Journal of Medicine. 337 (13): 898–909. doi:10.1056/NEJM199709253371306. PMID 9302305. Retrieved 2012-02-13. Unknown parameter
|month=
ignored (help) - ↑ Gertz MA, Lacy MQ, Dispenzieri A (1999). "Amyloidosis: recognition, confirmation, prognosis, and therapy". Mayo Clinic Proceedings. Mayo Clinic. 74 (5): 490–4. doi:10.4065/74.5.490. PMID 10319082. Retrieved 2012-02-13. Unknown parameter
|month=
ignored (help) - ↑ Hodkinson HM, Pomerance A (1977). "The clinical significance of senile cardiac amyloidosis: a prospective clinico-pathological study". The Quarterly Journal of Medicine. 46 (183): 381–7. PMID 918253. Retrieved 2012-02-13. Unknown parameter
|month=
ignored (help) - ↑ Lie JT, Hammond PI (1988). "Pathology of the senescent heart: anatomic observations on 237 autopsy studies of patients 90 to 105 years old". Mayo Clinic Proceedings. Mayo Clinic. 63 (6): 552–64. PMID 3374172. Unknown parameter
|month=
ignored (help);|access-date=
requires|url=
(help) - ↑ Buxbaum JN, Tagoe CE (2000). "The genetics of the amyloidoses". Annual Review of Medicine. 51: 543–69. doi:10.1146/annurev.med.51.1.543. PMID 10774481. Retrieved 2012-02-13.