Key result
In a family with hypertrophic cardiomyopathy, carriers of pro-LVH genotypes had significantly greater left ventricular muscle mass than non-carriers (320 vs 190, p=0.002).
Why the study?
Does the presence of pro-LVH genotypes in the renin-angiotensin-aldosterone system increase the expression of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy?
Observational (n=26)
Does the presence of pro-LVH genotypes in the renin-angiotensin-aldosterone system increase the expression of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy?
Absolute Event Rate: 320% vs 190%
p-value: p=0.002
Genetic polymorphisms of the renin-angiotensin-aldosterone system influence the penetrance and severity of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy.
Supports RAAS genotype modification of LVH in HCM families; hypothesis-generating, does not support clinical genotyping or practice change.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited disease of the sarcomere characterised clinically by myocardial hypertrophy and its consequences. Phenotypic expression is heterogeneous even within families with the same aetiological mutation and may be influenced by additional genetic factors. OBJECTIVE: To determine the influence of genetic polymorphisms of the renin-angiotensin-aldosterone system (RAAS) on ECG and two dimensional echocardiographic left ventricular hypertrophy (LVH) in genetically identical patients with HCM. PATIENTS AND METHODS: Polymorphisms of five RAAS components were determined in 26 gene carriers from a single family with HCM caused by a previously identified myosin binding protein C mutation. Genotypes associated with a higher activation status of the RAAS were labelled "pro-LVH genotypes". RESULTS: There was a non-biased distribution of pro-LVH genotypes in the gene carriers. Those without pro-LVH genotypes did not manifest cardiac hypertrophy whereas gene carriers with pro-LVH genotypes did (mean (SD) left ventricular muscle mass 190 (48) v 320 (113), p = 0.002; interventricular septal thickness 11.5 (2.0) v 16.4 (6.7), p = 0.01; pathological ECG 0% (0 of 10) v 63% (10 of 16), respectively). Multivariate analysis controlling for age, sex, and hypertension confirmed an independent association between the presence of pro-LVH polymorphisms and left ventricular mass. When each polymorphism was assessed individually, carriers of each pro-LVH genotype had a significantly greater left ventricular mass than those with no pro-LVH mutation; these associations, with the exception of cardiac chymase A AA polymorphism (p = 0.06), remained significant in multivariate analysis. CONCLUSION: Genetic polymorphisms of the RAAS influence penetrance and degree of LVH in 26 gene carriers from one family with HCM caused by a myosin binding protein C mutation.
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Jan R. Ortlepp (2002) conducted an observational in Hypertrophic cardiomyopathy (n=26). Pro-LVH genotypes (genetic polymorphisms of the renin-angiotensin-aldosterone system) vs. Absence of pro-LVH genotypes was evaluated on Left ventricular muscle mass (p=0.002). In a family with hypertrophic cardiomyopathy, carriers of pro-LVH genotypes had significantly greater left ventricular muscle mass than non-carriers (320 vs 190, p=0.002).
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