Pulmonary arterial hypertension in women

Sanchez, Olivier; Marié, E.; Wermert, Delphine; Israël‐Biet, Dominique; Meyer, G.

doi:10.1016/j.rmr.2009.12.001

Cited by 21 publications

(15 citation statements)

References 46 publications

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“…6 PAH is more common among females, with a 1.6-to 1.7-fold increase in idiopathic PAH and a 2-to 2.7-fold increase in incidence compared to males in familial PAH. 18 For PAH-associated diseases, the gender distribution is thought to be more heavily influenced by the epidemiology of the underlying condition, 19 and in the reported cases of PAH in patients with GSDI, 5 were females, and 4 were males. Three patients underwent surgical shunt placement from the portal or intestinal vein to the inferior vena cava, which was previously performed to promote growth in patients with GSDI.…”

Section: Discussionmentioning

confidence: 99%

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

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Austin

Britt

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

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Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.

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Section: Discussionmentioning

confidence: 99%

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Török

Austin

Britt

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

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“…Múltiples informes de casos y series retrospectivas realizadas, tanto antes como después de la introducción de tratamientos vasodilatadores como sildenafilo, análogos de prostaglandinas y óxido nítrico, muestran alta mortalidad en este grupo de pacientes [38][39][40][41][42][43][44][45][46][47][48] ; no hay estudios controlados que comparen la mortalidad antes y después de la era de estos nuevos vasodilatadores, y todavía se recomienda a las pacientes con ES y HAP que eviten concebir, e incluso se les puede ofrecer terminar el embarazo electivamente.…”

Section: Fertilidad En Esclerosis Sistémicaunclassified

Manejo integral de las pacientes con esclerosis sistémica durante el embarazo

Aguirre

Calvo

Reyna

2015

Reumatología Clínica

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“…This pathology is more frequent in women, with a ratio of 1.7:1 women to men 3, 4 . PAH is classified as idiopathic (IPAH), hereditary (HPAH) or associated with other conditions (APAH) such as connective tissue diseases, congenital heart diseases, portal hypertension and drug or toxin exposure 5, 6 . When a genetic defect has been identified in IPAH patients, which cosegregates with disease, they have been classified as HPAH 7 .…”

Section: Introductionmentioning

confidence: 99%

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

Pousada

Lupo

Castro-Sánchez

et al. 2017

Sci Rep

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Pulmonary arterial hypertension is a progressive disease that causes the obstruction of precapillary pulmonary arteries and a sustained increase in pulmonary vascular resistance. The aim was to analyze functionally the variants found in the BMPR2 gene and to establish a genotype-phenotype correlation. mRNA expression studies were performed using pSPL3 vector, studies of subcellular localization were performed using pEGFP-N1 vector and luciferase assays were performed using pGL3-Basic vector. We have identified 30 variants in the BMPR2 gene in 27 of 55 patients. In 16 patients we detected pathogenic mutations. Minigene assays revealed that 6 variants (synonymous, missense) result in splicing defect. By immunofluorescence assay, we observed that 4 mutations affect the protein localization. Finally, 4 mutations located in the 5′UTR region showed a decreased transcriptional activity in luciferase assays. Genotype-phenotype correlation, revealed that patients with pathogenic mutations have a more severe phenotype (sPaP p = 0.042, 6MWT p = 0.041), a lower age at diagnosis (p = 0.040) and seemed to have worse response to phosphodiesterase-5-inhibitors (p = 0.010). Our study confirms that in vitro expression analysis is a suitable approach in order to investigate the phenotypic consequences of the nucleotide variants, especially in cases where the involved genes have a pattern of expression in tissues of difficult access.

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Pulmonary arterial hypertension in women

Cited by 21 publications

References 46 publications

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Manejo integral de las pacientes con esclerosis sistémica durante el embarazo

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

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