Gender-specific differences in clinical profile of hypertrophic cardiomyopathy and their association with the polymorphic variant rs1739843 of the hspb7 gene

Objective. The aim of this study was to investigate gender-specific differences in the clinical profile of hypertrophic cardiomyopathy (HCM) and to determine the impact of polymorphic variant rs1739843 of the HSPB7 gene on clinical profile and outcomes in women and men with HCM.

Design and methods. The study population consisted of 171 patients with HCM ≥ 18 years old. A novel disease pathway model was employed to assess clinical course of HCM. Single nucleotide polymorphism (SNP) rs1739843 of the HSPB7 gene was genotyped by allele-specific real-time polymerase chain reaction assay.

Results. We found no significant gender-specific differences in clinical course of HCM in patients ≥ 18 years old during 10-year follow-up. High prevalence of T allele of rs1739843 of the HSPB7 gene was observed in women > 18 years old with HCM and chronic heart failure (CHF) with preserved ejection fraction (EF) (≥ 50 %) (C: Т, odds ratio (OR) = 0,213, 95 % confidence interval (CI) = 0,077-0,593, p < 0,002). Left atrium (LA) and left ventricle (LV) diastolic diameters were higher and LV diastolic diameter / body surface area was smaller in men than in women with HCM ≥ 18 years old. The frequency of TT genotype of rs1739843 of the HSPB7 gene was greater in men ≥ 18 years old with HCM and CHF III-IV (NYHA) functional class (FC), compared to those with CHF I-II FC (NYHA) (ТТ: ТС + СС, OR = 0,212, 95 % CI = 0,065-0,688, p < 0,03). The allele frequency (С: Т) also differs between HCM male patients with CHF III-IV FC (NYHA), compared to those with CHF I-II FC (NYHA) — 46,9: 53,1 % vs 69,5: 30,5 % (OR = 0,387, 95 % CI = 0,196-0,764, p < 0,006). Men with HCM ≥ 18 years old showed higher T allele frequency in case of HCM progression including those advancing up to CHF III-IV FC (NYHA) and those with CHF III-IV FC (NYHA) + atrial fibrillation.

Conclusions. LA and LV diastolic diameters were smaller and LV diastolic diameter / body surface area was higher in women than in men with HCM ≥ 18 years old. There were no significant gender-specific differences in clinical profile of HCM in patients ≥ 18 years old during 10-year follow-up. Allele T of rs1739843 of the HSPB7 gene is associated with HCM and CHF with preserved ejection fraction (≥ 50 %) in women ≥ 18 years old. The T allele and TT genotype of rs1739843 of the HSPB7 gene is also associated with HCM and CHF III-IV FC (NYHA) in men > 18 years old.

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