Hypertrophic cardiomyopathy--pathology and pathogenesis

Histopathology. 1995 Jun;26(6):493-500. doi: 10.1111/j.1365-2559.1995.tb00267.x.


Genes on five loci on separate chromosomes are responsible for a familial disease in which all or part of the ventricular muscle undergoes thickening with a histological picture of irregular hypertrophy and disorganized arrangement of myocytes (disarray). The three genes identified so far encode for beta heavy chain myosin (chromosome 14), troponin T (chromosome 1) and alpha tropomyosin (chromosome 15). It is postulated that the phenotype within the heart is produced by abnormal myofibril formation and alignment leading to an abnormal cell shape and, thus, disarray. While all the myocytes carry the gene, the regional selectivity of the hypertrophy is unexplained. The phenotypic expression of the disease within affected members of one family, all of whom are heterozygous for the same gene abnormality, is very varied. Asymptomatic carriers are common, and new mutations do not account for most apparently isolated cases. The phenotypic expression of the disease was studied in 75 hearts. The increase in total heart weight ranged from near normal to over 800 g. Ventricular involvement was diffuse and symmetric in 42%. The commonest asymmetric form involved the anteroseptal region (31%) but sporadic cases involved only the posterior or lateral wall. A minority of cases (9.5%) did not show macroscopic wall thickening. Fibrosis is often associated with dysplastic changes in the media of small intramyocardial arteries and may lead to the ventricular wall simulating a dilated cardiomyopathy. A subaortic patch of endocardial thickening on the ventricular septum due to contact with the anterior cusp of the mitral valve was found in a third of cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / pathology*
  • Chromosome Mapping
  • Genes
  • Heart Septum / pathology
  • Heart Ventricles / pathology
  • Heterozygote
  • Humans
  • Mutation
  • Myocardium / pathology*
  • Myosins / genetics
  • Phenotype


  • Myosins