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5 - The role of the pathologist in the diagnosis of cardiomyopathy: a personal view

Published online by Cambridge University Press:  06 January 2010

Nigel Kirkham  and
Neil A. Shepherd
By
Siân E. Hughes
Nigel Kirkham
Affiliation:
Royal Victoria Infirmary, Newcastle
Neil A. Shepherd
Affiliation:
Gloucestershire Royal Hospital
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Summary

INTRODUCTION

Primary cardiomyopathies are defined as diseases intrinsic to the myocardium associated with cardiac dysfunction leading to congestive heart failure, arrhythmia and sudden cardiac death. The primary cardiomyopathies are classified by their haemodynamic and morphological characteristics and include dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and unclassified cardiomyopathy [1], [2]. A familial cause has been shown in patients with DCM, HCM and ARVC. Advances in molecular genetics have led to the identification of single gene defects and candidate disease loci responsible for these cardiomyopathies as well as previously unclassified cardiomyopathies of unknown cause, such as isolated left ventricular non-compaction (LVNC). These advances, coupled with phenotype–genotype correlation analyses, have shown that the pathology of several types of cardiomyopathy encompasses a much broader morphological spectrum than previously anticipated. This chapter will focus on recent advances in our understanding of the pathology of the inherited cardiomyopathies and the role of the pathologist in the diagnosis of cardiomyopathy at autopsy and in endomyocardial biopsy specimens.

DILATED CARDIOMYOPATHY

Idiopathic DCM is the most common cause of congestive heart failure worldwide with an estimated prevalence in a general population of 36.5 cases per 100 000 [3]. It is characterised by progressive heart failure due to impaired contraction of the left or both ventricles accompanied by ventricular dilatation. Although the aetiology of idiopathic DCM is largely unknown [4], up to 35% of patients have familial disease [5].

Type
Chapter
Information
Progress in Pathology , pp. 101 - 134
Publisher: Cambridge University Press
Print publication year: 2007

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