The pathology of hypertrophic cardiomyopathy
- 30 April 2004
- journal article
- review article
- Published by Wiley in Histopathology
- Vol. 44 (5), 412-427
- https://doi.org/10.1111/j.1365-2559.2004.01835.x
Abstract
Sudden cardiac death (SCD) is devastating at any age, but even more so when the individual affected is young and asymptomatic, and the death is entirely unexpected. SCD is a catastrophic complication of hypertrophic cardiomyopathy (HCM) and may be the first manifestation of this disease. HCM is an inherited intrinsic disease of the myocardium characterized by left ventricular hypertrophy without chamber dilatation, in the absence of either a systemic or other cardiac disease, which may cause a similar magnitude of hypertrophy. HCM may be a clinically silent disease. Indeed, the pathologist may be the first to encounter a case of HCM at autopsy. HCM has wide-ranging implications for affected families, who will require cardiac screening and genetic counselling even if mutations are not known. Therefore, prompt and accurate diagnosis of HCM is vital. This review article will focus on the pathological diagnosis of HCM, recent advances in the genetics of this disease, and common pitfalls which may arise, leading to diagnostic uncertainty.Keywords
This publication has 135 references indexed in Scilit:
- Structural Analysis of the Titin Gene in Hypertrophic Cardiomyopathy: Identification of a Novel Disease GeneBiochemical and Biophysical Research Communications, 1999
- Hypertrophic CardiomyopathyThe New England Journal of Medicine, 1987
- Development and Progression of Left Ventricular Hypertrophy in Children with Hypertrophic CardiomyopathyThe New England Journal of Medicine, 1986
- Three autopsy cases of progression to left ventricular dilatation in patients with hypertrophic cardiomyopathyAmerican Heart Journal, 1985
- Myocardial bridges in obstructive hypertrophic cardiomyopathyAmerican Heart Journal, 1983
- Quantitative analysis of the distribution of cardiac muscle cell disorganization in the left ventricular wall of patients with hypertrophic cardiomyopathy.Circulation, 1981
- Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy.Circulation, 1979
- Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy.Circulation, 1979
- Asymmetric septal hypertrophy and myocardial fiber disarray. Features of normal, developing, and malformed hearts.Circulation, 1977
- Comparison of echocardiographic and necropsy measurements of ventricular wall thicknesses in patients with and without disproportionate septal thickening.Circulation, 1977