Dilated cardiomyopathy pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief: Sachin Shah, M.D.

Overview

Cardiomyopathies are defined as a heterogeneous group of diseases of the heart associated with a mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropropriate ventricular hypertrophy or dilation and are due to a variety of causes that frequently are genetic. [1] Phenotypic characteristics typically include ventricular chamber enlargement and systolic dysfunction with normal wall thickness.[1] Patients with dilated cardiomyopathy may experience a progressive decline in left ventricular contractile function, ventricular and supraventricular arrhythmias, conduction system problems, thromboembolism, sudden cardiac death and/or heart failure. [1]Dilated cardiomyopathy is the third most common cause of heart failure. [1]

Pathophysiology

Genetics

A family history also has a great importance in the diagnosis of dilated cardiomyopathy. It has been suggested that a portion of those patients labeled as "idiopathic" may have a familial form of the disease. The prevalence of this in the population of patients with dilated cardiomyopathy has been estimated as high as 25%.[2] The majority of these are thought to be related to autosomal dominant transmission, the remaining are thought to be transimtted in an autosomal recessive and X-linked fashion.[3] Mitochondrial inheritance of the disease has also been identified.[4]

Associated Conditions

A review of systems is also helpful in regards to connective tissue disease associated dilated cardiomyopathy. Some of the disease that can be associated with dilated cardiomyopathy are:

Gross Pathology

Images shown below are Courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology







References

  1. 1.0 1.1 1.2 1.3 Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D; et al. (2006). "Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention". Circulation. 113 (14): 1807–16. doi:10.1161/CIRCULATIONAHA.106.174287. PMID 16567565.
  2. Ross J Jr. Dilated cardiomyopathy: concepts derived from gene deficient and transgenic animal models. Circ J. 2002;66:219-24. PMID 11922267
  3. Mestroni L; Rocco C; et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999 Jul;34(1):181-90.
  4. Schonberger J, Seidman CE. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet. 2001;69:249-60. Epub 2001 Jul 6. PMID 11443548

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