Difference between revisions of "Cardiomyopathy"

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==Dilated cardiomyopathy==
==Dilated cardiomyopathy==
*Abbreviated ''DCM''.
===General===
===General===
*Classic cause of sudden death in young athletes.<ref name=pmid17330410>{{cite journal |author=Gojanovic B, Feihl F, Gremion G, Waeber B |title=[Sudden death in young athletes] |language=German |journal=Praxis (Bern 1994) |volume=96 |issue=6 |pages=189-98 |year=2007 |month=February |pmid=17330410 |doi= |url=}}</ref>
*Most common of the cardiomyopathies.
*Most common of the cardiomyopathies.


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*Myocarditis - leading cause, usually viral.<ref name=pmid19017683>{{cite journal |author=Luk A, Ahn E, Soor GS, Butany J |title=Dilated cardiomyopathy: a review |journal=J. Clin. Pathol. |volume=62 |issue=3 |pages=219–25 |year=2009 |month=March |pmid=19017683 |doi=10.1136/jcp.2008.060731 |url=}}</ref>
*Myocarditis - leading cause, usually viral.<ref name=pmid19017683>{{cite journal |author=Luk A, Ahn E, Soor GS, Butany J |title=Dilated cardiomyopathy: a review |journal=J. Clin. Pathol. |volume=62 |issue=3 |pages=219–25 |year=2009 |month=March |pmid=19017683 |doi=10.1136/jcp.2008.060731 |url=}}</ref>
*Familial ~ 30% - can be AD with variable penetrance, AR, X-linked.
*Familial ~ 30% - can be AD with variable penetrance, AR, X-linked.
*In the [[forensic pathology|forensic]] context, usually caused by alcoholism.<ref name=Ref_HoFP43>{{Ref HoFP|43}}</ref>
*In the [[forensic pathology|forensic]] context, usually caused by [[alcoholism]].<ref name=Ref_HoFP43>{{Ref HoFP|43}}</ref>


===Microscopic===
===Microscopic===
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DDx:
DDx:
*Mitochondrial myopathy.
*[[Mitochondrial myopathy]].
**Perinuclear clearing on light microscopy due to abundant mitochondria.
**Perinuclear clearing on light microscopy due to abundant mitochondria.
**Atypical mitochondria on [[electron microscopy]].
**Atypical mitochondria on [[electron microscopy]].
*Muscular dystrophy.
*[[Muscular dystrophy]].
*[[Storage disease]].
*[[Storage disease]].


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===General===
===General===
*Genetic.
*Genetic.
*Classic cause of sudden death in young athletes.<ref name=pmid17330410>{{cite journal |author=Gojanovic B, Feihl F, Gremion G, Waeber B |title=[Sudden death in young athletes] |language=German |journal=Praxis (Bern 1994) |volume=96 |issue=6 |pages=189-98 |year=2007 |month=February |pmid=17330410 |doi= |url=}}</ref>


===Gross===
===Gross===
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Images:  
Images:  
*[http://www.pathconsultddx.com/pathCon/largeImage?pii=S1559-8675(06)70595-2&figureId=fig2&ecomponentId=mmc2 HCM (pathconsultddx.com)].
*[http://medicinembbs.blogspot.com/2011/03/hypertrophic-obstructive-cardiomyopathy.html HCM (blogspot.com)].
*[http://www.bmj.com/content/327/7406/97/F6.large.jpg Haphazard arr. of fibres in HCM (bmj.com)].<ref>URL: [http://www.bmj.com/content/327/7406/97.full http://www.bmj.com/content/327/7406/97.full]. Accessed on: 11 January 2011.</ref>
*[http://medcell.med.yale.edu/histology/muscle/hypertrophic_cardiomyopathy.php HCM (yale.edu)].


===Variants===
===Variants===
====Hypertrophic obstructive cardiomyopathy====
====Hypertrophic obstructive cardiomyopathy====
*Abbreviated ''HOCM''.
*Considered to be a variant of HCM.
*Considered to be a variant of HCM.
*Historically known as ''idiopathic hypertrophic subaortic stenosis'' (IHSS).
*Historically known as ''idiopathic hypertrophic subaortic stenosis'' (IHSS).
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===Etiology===
===Etiology===
Multiple causes - an incomplete list:<ref name=Ref_HoFP44-5>{{Ref HoFP|44-5}}</ref>
Multiple causes - an incomplete list:<ref name=Ref_HoFP44-5>{{Ref HoFP|44-5}}</ref>
*[[Hemochromatosis]].
*[[Hemochromatosis]] - rare.<ref name=pmid7446557>{{Cite journal  | last1 = Cutler | first1 = DJ. | last2 = Isner | first2 = JM. | last3 = Bracey | first3 = AW. | last4 = Hufnagel | first4 = CA. | last5 = Conrad | first5 = PW. | last6 = Roberts | first6 = WC. | last7 = Kerwin | first7 = DM. | last8 = Weintraub | first8 = AM. | title = Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. | journal = Am J Med | volume = 69 | issue = 6 | pages = 923-8 | month = Dec | year = 1980 | doi =  | PMID = 7446557 }}</ref>
*[[Amyloidosis]].
**Hemochromatosis more commonly causes a [[DCM]].
*[[Sarcoidosis]].
*[[amyloidosis#Cardiac_amyloidosis|Amyloidosis]].
*Storage diseases ([[Pompe disease]]).
**Classically described as "stiff" or "rubbery".
*[[Cardiac sarcoidosis|Sarcoidosis]].
*Storage diseases (e.g. [[Pompe disease]]).
*Eosinophilic endocarditis (Loeffler Endocarditis).
*Eosinophilic endocarditis (Loeffler Endocarditis).


==Arrhythmogenic right ventricular cardiomyopathy==  
==Arrhythmogenic right ventricular cardiomyopathy==  
*Abbreviated ''ARVC''.
*Previously known as ''arrhythmogenic right ventricular dysplasia'', abbreviated ''ARVD''.
===General===
===General===
*Previously known as "arrhythmogenic right ventricular dysplasia".
*Associated with sudden cardiac death in "young people".<ref>Sudden cardiac death due to hypertrophic cardiomyopathy can be reduced by pre-participation cardiovascular screening in young athletes. URL: [http://eurheartj.oxfordjournals.org/cgi/content/full/27/18/2152 http://eurheartj.oxfordjournals.org/cgi/content/full/27/18/2152]. Accessed on: 16 December 2009.</ref>
*Associated with sudden cardiac death in "young people".<ref>Sudden cardiac death due to hypertrophic cardiomyopathy can be reduced by pre-participation cardiovascular screening in young athletes. URL: [http://eurheartj.oxfordjournals.org/cgi/content/full/27/18/2152 http://eurheartj.oxfordjournals.org/cgi/content/full/27/18/2152]. Accessed on: 16 December 2009.</ref>
*Male > female.  
*Male > female.  


===Etiology===
Etiology:
*Genetic - mutations in:
*Genetic - mutations in:
**Desmosomal proteins, especially plakoglobin and desmoplakin.
**Desmosomal proteins, especially plakoglobin and desmoplakin.
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**Clinical: wooly hair, palmar & plantar keratoses.
**Clinical: wooly hair, palmar & plantar keratoses.


===Histology===
===Gross===
Features:<ref name=emedicine1612324>URL: [http://emedicine.medscape.com/article/1612324-overview http://emedicine.medscape.com/article/1612324-overview].</ref>
*Right ventricular wall thinning/replacement with fat. †
**Especially fat where fat is ''not'' usually seen - posterior RV wall, RVOT.
*Septum usually has relative sparing
**Thus, endomyocardial biopsy is ''not'' reliable.
*+/-Aneurysms/dilation.
 
Note:
*† May involve the left ventricle.<ref name=pmid23761986>{{cite journal |author=Romero J, Mejia-Lopez E, Manrique C, Lucariello R |title=Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A Systematic Literature Review |journal=Clin Med Insights Cardiol |volume=7 |issue= |pages=97–114 |year=2013 |pmid=23761986 |pmc=3667685 |doi=10.4137/CMC.S10940 |url=}}</ref>
 
===Microscopic===
Features:<ref name=emedicine1612324/>
Features:<ref name=emedicine1612324/>
*"Moth-eaten" appearance:  
*"Moth-eaten" appearance:  
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*Myocytes have "bubbly" appearance with loss of myofibres and cross-striations.
*Myocytes have "bubbly" appearance with loss of myofibres and cross-striations.


Image:  
====Images====
*[http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia ARVC micrograph (WP)].
<gallery>
 
Image: Arrhythmogenic right ventricular cardiomyopathy - histology.jpg | ARVC. (WC)
===Gross features===
</gallery>
Gross:<ref name=emedicine1612324>URL: [http://emedicine.medscape.com/article/1612324-overview http://emedicine.medscape.com/article/1612324-overview].</ref>
=====www=====
*RV wall thinning/replacement with fat.
*[http://path.upmc.edu/cases/case223.html ARVC - several images (upmc.edu)].
**Especially fat where fat is ''not'' usually seen - posterior RV wall, RVOT.
*Septum usually has relative sparing
**Thus, endomyocardial biopsy is ''not'' reliable.
*+/-Aneurysms/dilation.


==Noncompaction cardiomyopathy==
==Noncompaction cardiomyopathy==
===Etiology===
===Etiology===
*Genetic.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/604169 http://www.ncbi.nlm.nih.gov/omim/604169]. Accessed on: 19 August 2010.</ref>
*Genetic - ''LVNC1 gene''.<ref name=omim604169>{{OMIM|604169}}</ref>
*May be associated with dilation.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/601493 http://www.ncbi.nlm.nih.gov/omim/601493]. Accessed on: 19 August 2010.</ref>
*May be associated with dilation.<ref name=omim604169>{{OMIM|604169}}</ref>
*Rare.
*Rare.
*Not clear whether it is a unique entity.<ref>{{cite journal |author=Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ |title=Left ventricular noncompaction cardiomyopathy: what do we know? |journal=Rev Cardiovasc Med |volume=11 |issue=2 |pages=92–9 |year=2010 |pmid=20700091 |doi= |url=}}</ref>
*Not clear whether it is a unique entity.<ref name=pmid20700091>{{cite journal |author=Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ |title=Left ventricular noncompaction cardiomyopathy: what do we know? |journal=Rev Cardiovasc Med |volume=11 |issue=2 |pages=92–9 |year=2010 |pmid=20700091 |doi= |url=}}</ref>


===Gross===
===Gross===

Latest revision as of 18:10, 8 February 2017

Cardiomyopathy, abbreviated as CM, is a domain of cardiology and forensic pathology, as many cardiomyopathies can lead to sudden death.

Overview

Types[1]

  1. Dilated cardiomyopathy - most common ~ 90%
  2. Hypertrophic cardiomyopathy
  3. Restrictive cardiomyopathy - least common

Note: The frequency of the CMs is in alphabetic order dilated, hypertrophic, restrictive.

Dilated cardiomyopathy

  • Abbreviated DCM.

General

  • Most common of the cardiomyopathies.

Causes:

  • Myocarditis - leading cause, usually viral.[2]
  • Familial ~ 30% - can be AD with variable penetrance, AR, X-linked.
  • In the forensic context, usually caused by alcoholism.[3]

Microscopic

Features:

  • Epicardial fibrosis.
  • Usually non-specific.

DDx:

IHC

Work-up for muscular dystrophy:

  • Dystrophin.

Work-up for mitochondrial disease:

  • COX.
  • SDH.

Hypertrophic cardiomyopathy

  • Abbreviated HCM.

General

  • Genetic.
  • Classic cause of sudden death in young athletes.[4]

Gross

  • Classic: septum:left ventricular free wall = 1.5:1.0.[5]

Microscopic

Features:[6]

  • Myocardial fibres have increased transverse size (~40 micrometres) - key feature.
    • Normal myocardial fibre width = 15 micrometres.
  • Haphazard arrangement of myocardial fibres;[7] "basket weave" pattern.
  • Interstitial fibrosis.
    • NOT diffuse patch/area as in an old myocardial infarction.
  • Large hyperchromatic nuclei (~3x fibroblast nucleus).[8]

Notes:

  • Easiest to identify if sections are perpendicular to the long axis of the myocytes.

Images:

Variants

Hypertrophic obstructive cardiomyopathy

  • Abbreviated HOCM.
  • Considered to be a variant of HCM.
  • Historically known as idiopathic hypertrophic subaortic stenosis (IHSS).

Apical HCM

  • AKA Japanese variant.[9]
  • Mid-ventricular septal thickening or apical thickening (NOT subaortic hypertrophy).

Restrictive cardiomyopathy

  • Uncommon form of cardiomyopathy.

Etiology

Multiple causes - an incomplete list:[10]

Arrhythmogenic right ventricular cardiomyopathy

  • Abbreviated ARVC.
  • Previously known as arrhythmogenic right ventricular dysplasia, abbreviated ARVD.

General

  • Associated with sudden cardiac death in "young people".[12]
  • Male > female.

Etiology:

  • Genetic - mutations in:
    • Desmosomal proteins, especially plakoglobin and desmoplakin.
  • Usually autosomal dominant.
  • Autosomal recessive variant: Naxos syndrome.[13]
    • Clinical: wooly hair, palmar & plantar keratoses.

Gross

Features:[14]

  • Right ventricular wall thinning/replacement with fat. †
    • Especially fat where fat is not usually seen - posterior RV wall, RVOT.
  • Septum usually has relative sparing
    • Thus, endomyocardial biopsy is not reliable.
  • +/-Aneurysms/dilation.

Note:

  • † May involve the left ventricle.[15]

Microscopic

Features:[14]

  • "Moth-eaten" appearance:
    • Loss of myocytes, replaced by:
      • Fat and/or
      • Scar tissue.
  • +/-Inflammation (lymphocytes, macrophages).
  • Myocytes have "bubbly" appearance with loss of myofibres and cross-striations.

Images

  • ARVC. (WC)

www

Noncompaction cardiomyopathy

Etiology

  • Genetic - LVNC1 gene.[16]
  • May be associated with dilation.[16]
  • Rare.
  • Not clear whether it is a unique entity.[17]

Gross

  • Prominent "mesh-like" trabeculae carnae.
    • Enlarged intertrabecular recesses.[18]

See also

References

  1. ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 601. ISBN 0-7216-0187-1.
  2. ↑ Luk A, Ahn E, Soor GS, Butany J (March 2009). "Dilated cardiomyopathy: a review". J. Clin. Pathol. 62 (3): 219–25. doi:10.1136/jcp.2008.060731. PMID 19017683.
  3. ↑ DiMaio, Vincent J.M.; Dana, Suzanna E. (2006). Handbook of Forensic Pathology (2nd ed.). CRC Press. pp. 43. ISBN 978-0849392870.
  4. ↑ Gojanovic B, Feihl F, Gremion G, Waeber B (February 2007). "[Sudden death in young athletes]" (in German). Praxis (Bern 1994) 96 (6): 189-98. PMID 17330410.
  5. ↑ JB. 9 June 2011.
  6. ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 601-3. ISBN 0-7216-0187-1.
  7. ↑ DiMaio, Vincent J.M.; Dana, Suzanna E. (2006). Handbook of Forensic Pathology (2nd ed.). CRC Press. pp. 44. ISBN 978-0849392870.
  8. ↑ CK. 14 October 2010.
  9. ↑ Reddy, M.; Thatai, D.; Bernal, J.; Pradhan, J.; Afonso, L. (Jul 2008). "Apical hypertrophic cardiomyopathy: potential utility of Strain imaging.". Eur J Echocardiogr 9 (4): 560-2. doi:10.1016/j.euje.2007.02.004. PMID 17392031.
  10. ↑ DiMaio, Vincent J.M.; Dana, Suzanna E. (2006). Handbook of Forensic Pathology (2nd ed.). CRC Press. pp. 44-5. ISBN 978-0849392870.
  11. ↑ Cutler, DJ.; Isner, JM.; Bracey, AW.; Hufnagel, CA.; Conrad, PW.; Roberts, WC.; Kerwin, DM.; Weintraub, AM. (Dec 1980). "Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.". Am J Med 69 (6): 923-8. PMID 7446557.
  12. ↑ Sudden cardiac death due to hypertrophic cardiomyopathy can be reduced by pre-participation cardiovascular screening in young athletes. URL: http://eurheartj.oxfordjournals.org/cgi/content/full/27/18/2152. Accessed on: 16 December 2009.
  13. ↑ http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601214
  14. ↑ 14.0 14.1 URL: http://emedicine.medscape.com/article/1612324-overview.
  15. ↑ Romero J, Mejia-Lopez E, Manrique C, Lucariello R (2013). "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A Systematic Literature Review". Clin Med Insights Cardiol 7: 97–114. doi:10.4137/CMC.S10940. PMC 3667685. PMID 23761986. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667685/.
  16. ↑ 16.0 16.1 Online 'Mendelian Inheritance in Man' (OMIM) 604169
  17. ↑ Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ (2010). "Left ventricular noncompaction cardiomyopathy: what do we know?". Rev Cardiovasc Med 11 (2): 92–9. PMID 20700091.
  18. ↑ Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R (August 1990). "Isolated noncompaction of left ventricular myocardium. A study of eight cases". Circulation 82 (2): 507–13. PMID 2372897.
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