Cardiomyopathy

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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

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. //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.