Pulmonary Arterial Hypertension in the Southern Hemisphere

Alves, José Leonidas; Gavilanes, Francisca; Jardim, Carlos; Fernandes, Constantino José; Morinaga, Luciana Tamie Kato; Dias, Bruno; Hoette, Susana; Humbert, Marc; Souza, Rogério

doi:10.1378/chest.14-1036

Cited by 64 publications

(49 citation statements)

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“…The REVEAL registry recognized an incidence of 2.7% [ 24 ], while the French registry identified 3.9% [ 25 ]. However, the incidence in other registries from China [ 26 ] and Brazil [ 27 ] is unknown. Recent guidelines of the European Cardiology Society [ 2 ] recommend analyses for genetic alterations in BMPR2 , BMPR1B , EIF2AK4 , CAV1 , KCNK3 , and ENG where BMPR2 has a key role in the etiological factor of the disease.…”

Section: Discussionmentioning

confidence: 99%

A systematic review of genetic mutations in pulmonary arterial hypertension

et al. 2017

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BackgroundPulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumulated research work combined with current sequencing technology show that many gene variants could be an important component of the disease. However, current guidelines, clinical practices, and available gene panels focus the diagnosis of PAH on a relatively low number of genes and variants associated with the bone morphogenic proteins and transforming Growth Factor-β pathways, such as the BMPR2, ACVRL1, CAV1, ENG, and SMAD9.MethodsTo provide an expanded view of the genes and variants associated with PAH, we performed a systematic literature review. Facilitated by a web tool, we classified, curated, and annotated most of the genes and PubMed abstracts related to PAH, in which many of the mutations and variants were not annotated in public databases such as ClinVar from NCBI. The gene list generated was compared with other available tests.ResultsOur results reveal that there is genetic evidence for at least 30 genes, of which 21 genes shown specific mutations. Most of the genes are not covered by current available genetic panels. Many of these variants were not annotated in the ClinVar database and a mapping of these mutations suggest that next generation sequencing is needed to cover all mutations found in PAH or related diseases. A pathway analysis of these genes indicated that, in addition to the BMP and TGFβ pathways, there was connections with the nitric oxide, prostaglandin, and calcium homeostasis signalling, which may be important components in PAH.ConclusionOur systematic review proposes an expanded gene panel for more accurate characterization of the genetic incidence and risk in PAH. Their usage would increase the knowledge of PAH in terms of genetic counseling, early diagnosis, and potential prognosis of the disease.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-017-0440-5) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

A systematic review of genetic mutations in pulmonary arterial hypertension

et al. 2017

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“…Currently, most of our knowledge of PAH comes from registries originating in Western populations [2][3][4][5][6][7][8]. However, taking a global view of PAH epidemiology shows important geographical differences in the characteristics of PAH patients [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Characterization of Patients with Pulmonary Arterial Hypertension: Data from the Polish Registry of Pulmonary Hypertension (BNP-PL)

Kopeć

Kurzyna²,

Mroczek

et al. 2020

JCM

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Current knowledge of pulmonary arterial hypertension (PAH) epidemiology is based mainly on data from Western populations, and therefore we aimed to characterize a large group of Caucasian PAH adults of Central-Eastern European origin. We analyzed data of incident and prevalent PAH adults enrolled in a prospective national registry involving all Polish PAH centers. The estimated prevalence and annual incidence of PAH were 30.8/mln adults and 5.2/mln adults, respectively and they were the highest in females ≥65 years old. The most frequent type of PAH was idiopathic (n = 444; 46%) followed by PAH associated with congenital heart diseases (CHD-PAH, n = 356; 36.7%), and PAH associated with connective tissue disease (CTD-PAH, n = 132; 13.6%). At enrollment, most incident cases (71.9%) were at intermediate mortality risk and the prevalent cases had most of their risk factors in the intermediate or high risk range. The use of triple combination therapy was rare (4.7%). A high prevalence of PAH among older population confirms the changing demographics of PAH found in the Western countries. In contrast, we found: a female predominance across all age groups, a high proportion of patients with CHD-PAH as compared to patients with CTD-PAH and a low use of triple combination therapy.

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“…Schistosomiasis associated pulmonary arterial hypertension (Sch-PAH) has gained attention in recent years because it might represent the most prevalent form of PAH worldwide [ 1 , 2 ]. In Brazil, it represents approximately 20 % of all PAH patients [ 3 ]. Although Sch-PAH has a similar clinical and pathological presentation as idiopathic PAH (IPAH), the clinical course seems to be more benign, with a three-year mortality of 15 % [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Pulmonary artery enlargement in schistosomiasis associated pulmonary arterial hypertension

et al. 2015

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BackgroundSchistosomiasis associated pulmonary arterial hypertension (Sch-PAH) might represent the most prevalent form of PAH worldwide. In Sch-PAH, the presence of aneurismal dilation of the pulmonary artery has been described, although it is still a matter of debate whether on average the pulmonary artery is more enlarged in Sc-PAH than IPAH.MethodsWe retrospectively evaluated patients with IPAH (n = 25) and Sch-PAH (n = 22) who underwent computed tomography pulmonary angiogram and right heart catheterization.ResultsSch-PAH patients were older and presented less severe hemodynamic profiles. Main pulmonary artery diameter (MPAD) was greater in Sch-PAH than IPAH (4.5 ± 1.8 vs 3.7 ± 1.1 cm, p = 0.018). For the same level of mean pulmonary artery pressure, the MPAD in Sch-PAH was 0.89 cm larger than in IPAH (Covariance model p = 0.02).ConclusionThis study demonstrated that pulmonary artery enlargement is more pronounced in Sch-PAH than IPAH, independently of mean pulmonary artery pressure level, suggesting that this is more likely a feature of Sch-PAH.

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Pulmonary Arterial Hypertension in the Southern Hemisphere

Cited by 64 publications

References 25 publications

A systematic review of genetic mutations in pulmonary arterial hypertension

A systematic review of genetic mutations in pulmonary arterial hypertension

Characterization of Patients with Pulmonary Arterial Hypertension: Data from the Polish Registry of Pulmonary Hypertension (BNP-PL)

Pulmonary artery enlargement in schistosomiasis associated pulmonary arterial hypertension

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