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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Right Ventricular Free Wall Strain in Healthy Lowlanders and Highlanders-A Case-Control Study.

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Healthy highlanders maintain right ventricular (RV) systolic function despite higher pulmonary arterial pressure (PAP). This suggests elevated PAP is an adaptation to altitude, not RV dysfunction, necessitating new diagnostic criteria for high-altitude pulmonary hypertension.

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Area of Science:

  • Cardiology
  • Pulmonology
  • Altitude Physiology

Background:

  • Healthy highlanders (HL) exhibit higher pulmonary arterial pressure (PAP) than lowlanders (LL).
  • The cause of elevated PAP in HL (hypoxia response vs. right ventricular (RV) dysfunction) remains unclear.

Purpose of the Study:

  • To assess RV systolic function in HL and LL using speckle-tracking echocardiography.
  • To determine if elevated PAP in HL is associated with RV dysfunction or physiological adaptation.

Main Methods:

  • Case-control study comparing RV free wall strain (RVFWS) in 38 HL and 21 LL in Kyrgyzstan.
  • Echocardiography used to measure RVFWS, RV FAC, TAPSE, and TDI S'.
  • Subgroup analysis for individuals with and without risk for pulmonary hypertension (PH).

Main Results:

  • No significant difference in RVFWS between HL (-27.3% ± 4.7) and LL (-27.0% ± 6.0).
  • Conventional RV indices (RV FAC, TAPSE, TDI S') showed significant differences between HL and LL.
  • No differences in RVFWS or conventional RV indices were observed in HL with or without PH risk.

Conclusions:

  • Healthy highlanders generally maintain normal RV systolic function, as indicated by RVFWS.
  • Elevated PAP in HL appears to be an adaptive response to high altitude, not RV dysfunction.
  • Current diagnostic criteria for high-altitude pulmonary hypertension may need refinement.