High-altitude polycythemia (HAPC) is a pathological state resulting from maladaptation to prolonged high-altitude exposure, posing significant risks to the cardiovascular health of highlanders. However, its influence on hypertension-mediated organ damages (HMODs) in hypertensive individuals remains unclear. We recruited hypertensive patients residing at altitudes above 2500 m for over 3 years. A case–control matching was conducted in a 1:1 ratio between hypertensive patients with and without HAPC, based on gender and age. Echocardiography, carotid artery ultrasound, and brachial flow-mediated dilation (FMD) were measured as HMODs. A total of 88 hypertensive patients were included in the analysis, with 44 with HAPC and 44 without HAPC. Patients with HAPC showed significantly higher hemoglobin (HGB) levels (217.82 ± 17.34 vs. 160.16 ± 13.25, P<0.001), a larger left atrium (LA) diameter (35.36 ± 4.25 vs. 33.09 ± 3.55, P = 0.008), and a higher proportion of impaired FMD (95.45% vs. 79.55%, P = 0.049) compared to those without HAPC. No significant differences were found between the two groups in diastolic function parameters, left ventricular mass index (LVMI), relative wall thickness (RWT), or intima-media thickness (IMT). After adjusting for age, gender, and other confounding factors, HGB remained significantly associated with LA diameter (β = 0.034, P = 0.023) and impaired FMD (OR = 1.034, 95% CI 1.001–1.069). After matching for age and gender, hypertensive patients with HAPC exhibited a significantly larger LA diameter and a higher prevalence of impaired FMD compared to those without HAPC. Additionally, HGB was identified as an independent risk factor for both increased LA diameter and impaired FMD in hypertensive patients with HAPC.

This study was conducted to investigate the association between visceral fat area (VFA) and heart rate variability (HRV) in high-altitude migrants with obstructive sleep apnea (OSA). We conducted a cross-sectional study comprising 152 OSA participants from 2022 to 2024. We employed multivariable linear regression to further elucidate the association between VFA and HRV. Mediation analysis was utilized to investigate the indirect effects of insulin resistance and white blood cell counts on this relationship. Sensitivity analysis assessed the robustness of the results. To explore the influence of gender on the results, we conducted gender-specific subgroup analyses and interaction tests. Multivariable regression analysis revealed that for every 20-unit increase in VFA, there were significant reductions in SDNN (-4.00, 95% CI: -5.90, -2.11), SDANN (-3.51, 95% CI: -5.43, -1.60), SDNN index (-1.35, 95% CI: -2.13, -0.56), rMSSD (-0.92, 95% CI: -1.51, -0.33), and pNN50 (-0.58, 95% CI: -0.99, -0.17). Additionally, a significant positive association was found between VFA and the low-frequency/high-frequency ratio (LF/HF ratio) (0.25, 95% CI: 0.11, 0.39). Mediation analysis indicated a significant mediating effect of HOMA-IR on the VFA-HRV association, with proportions of 20.32%, 18.76%, and 26.23% for SDNN index, rMSSD, and LF/HF ratio, respectively. The mediating effect based on white blood cell count did not reach statistical significance. There was no gender difference in the association between VFA and HRV. The sensitivity analysis indicated that the findings remained robust. Our findings indicated that visceral fat serves as a significant determinant of cardiovascular health among OSA patients residing at high altitudes and may represent a viable target for intervention and preventive strategies.

Objective: Patent foramen ovale (PFO), a prevalent congenital cardiac defect, is linked to clinical conditions such as cryptogenic stroke and migraine. The genetic underpinnings of PFO remain poorly elucidated, particularly in Tibet. This study aimed to identify potential pathogenic mutations in Tibetan PFO patients via whole exome sequencing (WES) to clarify its genetic basis.Methods: Eighteen Tibetan PFO patients diagnosed by echocardiography were enrolled. Peripheral blood samples underwent WES using Illumina HiSeq platform, followed by bioinformatics analysis to filter rare variants. Pathogenicity was assessed using predictive tools (SIFT, PolyPhen V2, and MutationTaster) and cardiac development-related gene databases (OMIM, HPO, HGMD, and MGI).Results: In this study, we identified four novel pathogenetic mutations in Tibetan PFO patients, including GABRP rs201584759 (c.421C>T: p. R141C), GJB4 rs200602523 (c.292C>T: p. R98C), RTTN rs199568901 (c.5410G>A: E1804K), and USH2A rs144768593 (c.5608C>T: p. R1870W). Further analysis indicated that GABRP, GJB4, and RTTN were significantly associated with the occurrence of congenital heart disease.Conclusion: This study first reveals genetic characteristics of Tibetan PFO patients, implicating GABRP, GJB4, RTTN, and USH2A mutations in disrupting cardiac developmental pathways, potentially contributing to the occurrence of PFO. Findings underscore genetic factors regarding PFO prevalence in populations living in high-altitude and provide insights for molecular research and precision medicine.

Background: Paraganglioma is a rare neuroendocrine tumor and is highly associated with hereditary susceptibility genes, often occurring as part of a genetic syndrome. The genetic heterogeneity of paraganglioma poses challenges in diagnosis, counseling, and clinical management.Case summary: We present the case of a 60-year-old woman with hypertension, atrial septal defect, and polycythemia, who experienced paroxysmal palpitations, sweating, headache, abdominal pain, nausea, and vomiting. Her blood pressure was severely unstable. Blood laboratory tests revealed elevated catecholamine levels, contrast-enhanced CT of her whole abdomen showed a round retroperitoneal mass with soft tissue density, and somatostatin receptor imaging (68Ga PET-CT) indicated a retroperitoneal mass with abnormally increased expression of somatostatin receptor. It is interesting to note that whole exome sequencing (WES) analyses on both blood and tumor samples revealed a novel EPAS1 mutation, specifically the c.2501A > G; p.Tyr834Cys variant, which has never been reported. The patient was diagnosed with paraganglioma and underwent successful Da Vinci robot-assisted laparoscopic resection of the retroperitoneal tumor. During a 3-month follow-up period, her blood pressure stabilized, and her symptoms significantly improved.Conclusion: This case reveals that the EPSA1 mutation may be the primary driver of paraganglioma complicated by atrial septal defect and polycythemia. Additionally, the utilization of Da Vinci robot-assisted laparoscopic surgery contributed to a favorable prognosis for the patient.