Prevalence of diagnostic abnormalities in patients with genetically transmitted asymmetric septal hypertrophy

doi:10.1016/0002-9149(79)90071-7

The American Journal of Cardiology

Volume 43, Issue 4, April 1979, Pages 731-737

https://doi.org/10.1016/0002-9149(79)90071-7 Get rights and content

Abstract

Echocardiographic studies were performed in 100 patients from a general population with cardiac disease and in 33 patients with classic hypertrophic obstructive cardiomyopathy and 116 of their first degree relatives. The findings were compared with those in 35 normal persons. The prevalence rate of asymmetric septal hypertrophy (ventricular septal to free posterior wall ratio greater than 1.3) was 8 percent in the general population with heart disease. No further clinical or echocardiographic evidence was found for a familial disease. The ventricular septal to free posterior wall ratios for this group and the normal subjects had a unimodal distribution curve. All patients with hypertrophic obstructive cardiomyopathy demonstrated asymmetric septal hypertrophy, a decreased systolic septal thickening of less than 25 percent and a characteristic left ventricular shape in the cross-sectional echocardiogram. The ventricular septal to posterior wall ratios in their 116 relatives had a bimodal distribution curve; in 35 relatives the ratio indicated asymmetric septal hypertrophy and in 81 the ratio was normal. In addition, all 35 relatives with echocardiographic evidence of asymmetric septal hypertrophy had decreased systolic septal thickening (less than 25 percent) and in 17 the echocardiographic left ventricular shape was similar to that in patients with hypertrophic obstructive cardiomyopathy. In contrast, the 81 relatives who had no asymmetric septal hypertrophy had normal systolic septal thickening and a normal left ventricular shape. The clinical examination, electrocardiogram and chest X-ray film were less sensitive than the echocardiogram in detecting diagnostic abnormalities in the 35 relatives with asymmetric septal hypertrophy.

It is concluded that echocardiographically assessed asymmetric septal hypertrophy can be considered the anatomic marker for hypertrophic cardiomyopathy only when, in addition, a decreased systolic septal thickening and, to a lesser degree, an abnormal left ventricular shape are present. The asymmetric septal hypertrophy in these cases probably represents the anatomic expression of a genetic defect that has an autosomal dominant pattern of inheritance. In so-called “borderline” cases with echocardiographic signs of an abnormal ventricular septal to posterior wall ratio, a definitive clinical diagnosis of hypertrophic cardiomyopathy could be made only after echocardiographic screening of family members for the presence of asymmetric septal hypertrophy.

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Citation Excerpt :
Although some experimental studies27-29 have shown systolic dysfunction in patients with LV hypertrophy from an observation of depressed myocardial fiber shortening, few clinical studies have confirmed this finding.15,30,31 Overall LV pump function in patients with HC was judged normal in early studies that used M-mode echocardiography4,5 because hyperkinesis in the LV PW compensated for hypokinesis in the IVS. However, in the M-mode echocardiogram, the posterior movement of the IVS is underestimated and the anterior movement of the LV PW is overestimated because of anterior translation of the whole heart.
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Mutations in the cardiacβ-myosin heavy chain gene (MYH7), and other genes encoding cardiac sarcomere proteins may cause familial hypertrophic cardiomyopathy (F-HCM), an autosomal dominant disease, characterized by myocardial hypertrophy. We analysed theMYH7gene in three generations of a family with one borderline and four clinically verified cases of hypertrophic cardiomyopathy, and identified a mutation in exon 7 changing the 190 arginine residue into a threonine residue. The mutation is located in the ATP-binding region of the myosin head and alters the charge in the F-helix close to the phosphate-binding P-loop. The mutation may thus interfere with the coupling between ATP-hydrolysis and the transition into mechanical energy. In conclusion, the novel Arg190Thr mutation in exon 7 of theMYH7gene is associated with the development of symptomatic myocardial hypertrophy in adults.
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An increasing number of genetic studies in hypertrophic cardiomyopathy challenge conventional views on inheritance and suggest genetic heterogeneity or non-genetic disease. We have found changes in relative risk for some antigens with significantly increased frequency of HLA antigen DR4 in this condition. These findings are consistent with there being a genetic component in susceptibility to hypertrophic cardiomyopathy. No evidence was found for HLA linkage using either sib pair analysis or lod scores. This suggests that hypertrophic cardiomyopathy does not have a disease susceptibility gene related to the HLA region on the short arm of chromosome number six. Population HLA associations with hypertrophic cardiomyopathy must thus be explained by other influences of the genetic background on disease susceptibility.
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Clinical studyPrevalence of diagnostic abnormalities in patients with genetically transmitted asymmetric septal hypertrophy

Abstract

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