Table 1

Patient profile and histological findings

CaseAge (years)Sexβ-MHC mutation siteEchocardiographyHistological study
IVSTLVDdLVEFCell sizeDisarrayFibrosis
Mutation positive HCM
157F 56 ValIle 17410.77112
21-151 46M 736 Ile Met 10490.79102
363M 778 AspGly 22430.69222
418M 778 AspGly 13490.81212
516M 870 ArgHis 20380.83112
636F 870 ArgHis 19310.80111
727M 935 GluLys 26500.53122
Mean (SD)38 (19)18 (5)1-150 43 (7)0.75 (0.11)1.3 (0.5)1-150 1.1 (0.7)1-150 1.9 (0.4)1-150
Mutation negative HCM
819F14260.98212
915M15450.64123
1049F20470.80122
1124F13500.58121
1231M30360.77112
1336F12400.83021
Mean (SD)29 (12)17 (7)1-150 41 (9)0.77 (0.14)1.0 (0.5)1-150 1.7 (0.5)1-150 1.8 (0.8)1-150
Controls
1454F7460.82000
151-152 49F8420.81010
1631F8460.78000
1762F8520.68001
1828M11480.78000
Mean (SD)45 (15)8 (2)47 (4)0.77 (0.06)0.0 (0.0)0.2 (0.5)0.2 (0.5)
  • Myocyte hypertrophy was graded as 0 for average cell diameter < 15 μm; 1+ for 16–20 μm; 2+ for 21–25 μm; and 3+ for 26 μm or more. The area of fibrosis was graded as 0 for 0–5%; 1+ for 6–15%; 2+ for 16–20%; and 3+ for ⩾ 21% fibrosis. The myocardial disarray was graded as follows: a parallel arrangement of the myocardial fibres was graded as 0; disarray was graded as 1 to 3 according to the extent of cellular branching and disarrangement.

  • 1-150 p < 0.05 v controls.

  • 1-151 These patients showed significant hypertrophy of the lateral, inferior, and apical wall although measurements of their septal thickness were not necessarily diagnostic for HCM.

  • 1-152 This patient had frequent ventricular ectopic beats accompanied by no apparent findings suggesting organic heart disease, except for mild myocardial disarray.

  • β-MHC, β myosin heavy chain; HCM, hypertrophic cardiomyopathy; IVST, interventricular septal thickness (mm); LVDd, left ventricular diastolic dimension (mm); LVEF, left ventricular ejection fraction.