Prevalence of High Altitude Pulmonary Hypertension Among the Natives of Spiti Valley—A High Altitude Region in Himachal Pradesh, India

Negi, Prakash Chand; Marwaha, Rajeev; Asotra, Sanjeev; Kandoria, Arvind; Ganju, Neeraj; Sharma, Rajesh; Kumar, Ravi V; Bhardwaj, Ramakant

doi:10.1089/ham.2013.1112

Cited by 21 publications

(18 citation statements)

References 16 publications

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“…Significant changes in blood coagulation at high altitudes may predispose individuals to pulmonary hypertension [25,26]. Negi et al [27] conducted a cross-sectional survey of permanent inhabitants in the Spiti Valley at an altitude of 3000 to 4200 m, although no significant correlation was found between altitude and pulmonary hypertension. However, it is still found that the prevalence rate is increasing with the increase of altitude; the data published to date have not been identified in plateau populations as genetic susceptibility to individual pulmonary hypertension [28,29].…”

Section: Discussionmentioning

confidence: 99%

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

et al. 2020

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Aims: Persistent pulmonary hypertension of the newborn (PPHN) is characterized by sustained high levels of pulmonary vascular resistance after birth with etiology unclear; Arterial blood oxygen saturation of Tibetan newborns at high latitudes is higher than that of Han newborns at low latitudes, suggesting that genetic adaptation may allow sufficient oxygen to confer Tibetan populations with resistance to pulmonary hypertension; We have previously identified genetic factors related to PPHN through candidate gene sequencing; In this study, we first performed whole exome sequencing in PPHN patients to screen for genetic-related factors. Methods and results: In this two-phase genetic study, we first sequenced the whole exome of 20 Tibetan PPHN patients and compared it with the published genome sequences of 50 healthy high-altitude Tibetanshypoxia-related genes, a total of 166 PPHN-related variants were found, of which 49% were from 43 hypoxia-related genes; considering many studies have shown that the differences in the genetic background between Tibet and Han are characterized by hypoxia-related genetic polymorphisms, so it is necessary to further verify whether the association between hypoxiarelated variants and PPHN is independent of high-altitude life. During the validation phase, 237 hypoxia-related genes were sequenced in another 80 Han PPHN patients living in low altitude areas, including genes at the discovery stage and known hypoxia tolerance, of which 413 variants from 127 of these genes were shown to be significantly associated with PPHN.hypoxia-related genes. Conclusions: Our results indicates that the association of hypoxia-related genes with PPHN does not depend on highaltitude life, at the same time, 21 rare mutations associated with PPHN were also found, including three rare variants of the tubulin tyrosine ligase-like family member 3 gene (TTLL3:p.E317K, TTLL3:p.P777S) and the integrin subunit alpha M gene (ITGAM:p.E1071D). These novel findings provide important information on the genetic basis of PPHN.

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Section: Discussionmentioning

confidence: 99%

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

et al. 2020

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“…However, if the population resided at a higher altitude, a trend of higher risk of PH was observed. Therefore, different regions have different incidence and mortality rates . The average altitude in America is higher than that in Europe, and American populations had increased mortality compared to European populations.…”

Section: Discussionmentioning

confidence: 99%

Serum cardiac troponin elevation predicts mortality in patients with pulmonary hypertension: A meta‐analysis of eight cohort studies

Yang

Zhang

et al. 2019

Clinical Respiratory J

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are first co-authors.A bbreviations: 95%CI, 95% confidence interval; CTEPH, chronic thromboembolic pulmonary hypertension; CTn, cardiac troponin; HR, hazard ratio; IPAH, idiopathic pulmonary arterial hypertension; NOS, Newcastle-Ottawa Scale; PAH, pulmonary arterial hypertension; PH, pulmonary hypertension. Correspondence AbstractObjective: To determine the association of serum cardiac troponin (cTn) with the mortality of pulmonary hypertension (PH) patients via a meta-analysis. Date Source: We searched PubMed and EMBASE from inception to October 25, 2017.Study Selection: The reference lists of the retrieved articles were also consulted.The Q test and I 2 test were used for to assess heterogeneity. The relationship between cTn elevation and mortality was analysed. Studies were stratified according to type of troponin (cTnT vs cTnI), region (Europe vs America) and follow-up length (≤3 years vs >3 years). Results: Eight studies with 739 patients were included in the meta-analysis. Cardiac troponin elevation ranged from 14.3% to 94.5%. Overall, 48.8% (39/80) of patients with elevated cTn died compared to 18.6% (45/242) of patients with normal cTn levels. These findings showed cTn elevation was significantly related to an increased mortality risk in PH patients [hazard ratio (HR) = 3.05, 95% confidence interval (95% CI) = 2.16-4.32, I 2 = 24.9%]. cTnI was better at predicting mortality than cTnT (HR = 3.37, 95%CI = 2.05-5.55 vs HR = 2.80, 95%CI = 1.97-3.98, respectively).American populations had increased mortality compared to European populations (HR = 4.23, 95%CI = 2.29-7.80 vs HR = 2.70, 95% CI = 1.95-3.74, respectively). How to cite this article: Xu S-L, Yang J, Zhang C-F, et al. Serum cardiac troponin elevation predicts mortality in patients with pulmonary hypertension: A meta-analysis of eight cohort studies. Clin Respir J. 2019;13:82-91. https://doi.

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“…Thus, based on current scientific literature we can assume that the rough prevalence of HAPH ranges from 5 to 18% in populations at risk and is more common in men. In a recent study by Negi et al demonstrated HAPH prevalence of 3.23% among natives of Spiti Valley, India [ 43 ].…”

Section: Epidemiology Of Haphmentioning

confidence: 99%

High-altitude Pulmonary Hypertension: an Update on Disease Pathogenesis and Management

Mirrakhimov¹,

Strohl²

2016

TOCMJ

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High-altitude pulmonary hypertension (HAPH) affects individuals residing at altitudes of 2,500 meters and higher. Numerous pathogenic variables play a role in disease inception and progression and include low oxygen concentration in inspired air, vasculopathy, and metabolic abnormalities. Since HAPH affects only some people living at high altitude genetic factors play a significant role in its pathogenesis. The clinical presentation of HAPH is nonspecific and includes fatigue, shortness of breath, cognitive deficits, cough, and in advanced cases hepatosplenomegaly and overt right-sided heart failure. A thorough history is important and should include a search for additional risk factors for lung disease and pulmonary hypertension (PH) such as smoking, indoor air pollution, left-sided cardiac disease and sleep disordered breathing. Twelve-lead electrocardiogram, chest X-ray and echocardiography can be used as screening tools. A definitive diagnosis should be made with right-sided heart catheterization using a modified mean pulmonary artery pressure of at least 30 mm Hg, differing from the 25 mm Hg used for other types of PH. Treatment of HAPH includes descent to a lower altitude whenever possible, oxygen therapy and the use of medications such as endothelin receptor antagonists, phosphodiesterase 5 blockers, fasudil and acetazolamide. Some recent evidence suggests that iron supplementation may also be beneficial. However, it is important to note that the scientific literature lacks long-term randomized controlled data on the pharmacologic treatment of HAPH. Thus, an individualized approach to treatment and informing the patients regarding the benefits and risks of the selected treatment regimen are essential.

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Prevalence of High Altitude Pulmonary Hypertension Among the Natives of Spiti Valley—A High Altitude Region in Himachal Pradesh, India

Cited by 21 publications

References 16 publications

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

Serum cardiac troponin elevation predicts mortality in patients with pulmonary hypertension: A meta‐analysis of eight cohort studies

High-altitude Pulmonary Hypertension: an Update on Disease Pathogenesis and Management

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