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.
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%.[1] 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.[2] Mitochondrial inheritance of the disease has also been identified.[3]
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:
- SLE (systemic lupus erythematosis)
- Rheumatoid arthritis
- Sarcoidosis
- Scleroderma
- Connective tissue diseases
- Pericardial effusion - It may accompany myocarditis but this finding is not specific.
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
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Cardiomyopathy: Gross excellent view of mitral valve from left atrium anterior leaflet appears to balloon a bit into the atrium
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Cardiomyopathy: Gross excellent view of mitral and tricuspid valves from atria, appear normal anatomy.
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Dilated Cardiomyopathy: Gross natural color close-up view of heart surgically removed for a transplantation shows aortic valve and anterior leaflet of mitral valve with cholesterol deposits endocardium of left ventricle is diffusely thickened
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Cardiomyopathy: Gross external view of globular heart with patchy fibrosis seen through epicardium
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Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening this is what has been called adult fibroelastosis
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Dilated Cardiomyopathy: Gross good example huge dilated left ventricle
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Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis (an excellent example)
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Cardiomyopathy: Gross intact globular shaped heart
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Dilated Cardiomyopathy: Gross opened left ventricle dilated with endocardial thickening good example
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Cardiomyopathy: Gross globular heart external view 10 year old girl with sickle cell anemia
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Cardiomyopathy: Gross horizontal sections of ventricles dilation type 10 year old girl with sickle cell anemia
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Cardiomyopathy: Intermediate between hypertrophic and dilated
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Dilated Cardiomyopathy: Gross opened globular left ventricle natural color (very good example)
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Brain: Infarct: Healing large MCA and PICA probably embolic 64 year old female chronic obstructive pulmonary disease and cardiomyopathy with atrial fibrillation
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Kidney: Infarct Remote: Gross external view with capsule removed two old and very typical infarct scars 27yobf with dilated cardiomyopathy
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Dilated Cardiomyopathy: Gross natural color external view globular heart 500 gm 24yo female seven pregnancies
References
- ↑ Ross J Jr. Dilated cardiomyopathy: concepts derived from gene deficient and transgenic animal models. Circ J. 2002;66:219-24. PMID 11922267
- ↑ 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.
- ↑ 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