Cardiac amyloidosis pathophysiology: Difference between revisions
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*Amyloidosis is characterized by the deposition and extracellular accumulation of fibrillary proteins, leading to the loss of normal tissue architecture.<ref name="pmid12904524">{{cite journal |author=Merlini G, Bellotti V |title=Molecular mechanisms of amyloidosis |journal=[[The New England Journal of Medicine]] |volume=349 |issue=6 |pages=583–96 |year=2003 |month=August |pmid=12904524 |doi=10.1056/NEJMra023144 |url=http://www.nejm.org/doi/abs/10.1056/NEJMra023144?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |accessdate=2012-02-13}}</ref> | *Amyloidosis is characterized by the deposition and extracellular accumulation of fibrillary proteins, leading to the loss of normal tissue architecture.<ref name="pmid12904524">{{cite journal |author=Merlini G, Bellotti V |title=Molecular mechanisms of amyloidosis |journal=[[The New England Journal of Medicine]] |volume=349 |issue=6 |pages=583–96 |year=2003 |month=August |pmid=12904524 |doi=10.1056/NEJMra023144 |url=http://www.nejm.org/doi/abs/10.1056/NEJMra023144?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |accessdate=2012-02-13}}</ref> | ||
*Most frequent types are: | *Most frequent types are: | ||
:*Acquired monoclonal immunoglobulin light-chain amyloidosis | :*Acquired monoclonal immunoglobulin light-chain amyloidosis | ||
:*Hereditary transthyretin (TTR)-related form | |||
:*Non-mutant TTR-related amyloidosis | |||
: | *All three forms frequently involve the myocardium.<ref name="pmid9302305">{{cite journal |author=Falk RH, Comenzo RL, Skinner M |title=The systemic amyloidoses |journal=[[The New England Journal of Medicine]] |volume=337 |issue=13 |pages=898–909 |year=1997 |month=September |pmid=9302305 |doi=10.1056/NEJM199709253371306 |url=http://www.nejm.org/doi/abs/10.1056/NEJM199709253371306?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed |accessdate=2012-02-13}}</ref><ref name="pmid10319082">{{cite journal |author=Gertz MA, Lacy MQ, Dispenzieri A |title=Amyloidosis: recognition, confirmation, prognosis, and therapy |journal=[[Mayo Clinic Proceedings. Mayo Clinic]] |volume=74 |issue=5 |pages=490–4 |year=1999 |month=May |pmid=10319082 |doi=10.4065/74.5.490 |url=http://linkinghub.elsevier.com/retrieve/pii/S0025-6196(11)65130-6 |accessdate=2012-02-13}}</ref> | ||
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=====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)===== | ||
:*caused by greater than 100 mutations of TTR | |||
:*the protein is synthesized by the liver | |||
=====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===== | |||
:*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 15:59, 13 February 2012
Cardiac amyloidosis Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor: Cafer Zorkun, M.D., Ph.D. [2]; Lakshmi Gopalakrishnan, M.B.B.S. [3]
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.