Idiopathic Pulmonary Arterial Hypertension in Children: A Review

Valencia, Gerson A.; Krishnan, Usha

doi:10.1007/s41030-017-0035-5

Cited by 2 publications

(4 citation statements)

References 166 publications

(149 reference statements)

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“…As such, the therapeutic approach is similar [ 13 , 14 ]. IPAH in children is rare (<10:1,000,000) and its incidence is 1–2:1,000,000/year [ 15 ]. Many worldwide registries exist including children with PAH of various aetiologies.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic Pulmonary Arterial Hypertension in Paediatrics Represents Still a Serious Challenge: A Case Series Study

et al. 2023

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Introduction: Paediatric pulmonary hypertension (PH) represents a heterogeneous illness that is responsible for high morbidity and mortality if left without treatment. Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of PAH rarely seen in paediatrics. Limited long-term data are available. Methods: Over a period of 20 years, 10 paediatric patients were enrolled at two tertiary centres. Their clinical, echocardiographic, and right heart catheterisation (RHC) features and outcome were evaluated. Results: The mean age at first diagnosis was 5.7 ± 5.7 years. The age at the last follow-up was 12.4 ± 6.1 years. The average follow-up was 6.6 ± 0.8 years. There was a female prevalence of 60% (p < 0.05) in this case series. Regarding the NYHA functional class, 80% of IPAH subjects were in class III or IV. The mean saturation was 91 ± 5%. In this regard, 70% of the patients were on a combination of three drugs, with sildenafil (90%) included. On echocardiography, longitudinal right ventricular contractility (TAPSE) was slightly reduced (13.4 ± 2.6 mm), whilst RVSP was severely elevated (101 ± 19 mmHg). The RHC data showed that mPAP was 61.8 ± 23.1 mmHg (p = 0.0017 with RVSP on echocardiography), mRAP was 10.7 ± 3.8 mmHg, CI was 2.6 ± 1 L·min−1·m−2, PVRi was 16.8 ± 12.6 WU·m2, and SVO2 was 63.6 ± 14.8%. Regarding the outcome, two male IPAH patients (20%) died, and 50% underwent lung transplant or were on transplant assessment or already on the waiting list for lung transplantation. One patient underwent a ductus arteriosus stenting (reverse Potts shunt) and another underwent atrial septostomy and stenting. Conclusions: Notwithstanding the progress in medical therapy, IPAH continues to represent a serious challenge, particularly in the paediatric population, with the need for lung transplantation and significant mortality.

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Section: Discussionmentioning

confidence: 99%

Idiopathic Pulmonary Arterial Hypertension in Paediatrics Represents Still a Serious Challenge: A Case Series Study

et al. 2023

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“… 15 , 16 In addition, the clinical presentation is variable within the same family, and the incidence is higher in females. 17 – 20 …”

Section: Introductionmentioning

confidence: 99%

“…15,16 In addition, the clinical presentation is variable within the same family, and the incidence is higher in females. [17][18][19][20] Recent studies evidenced that, at least, 30 genes are implicated in the development of PAH, of which 21 showed specific mutations. 21,22 Multiple research studies, including identification of mutations, genes, and gene therapy, are opening new windows for the target treatment of this devastating disease.…”

Section: Introductionmentioning

confidence: 99%

“…Only about 20% of the population with BMPR2 mutations develop the disease, suggesting an incomplete penetrance of the gene and a “second‐hit” mechanism based on a major gene and an additional modifier gene 15 , 16 . In addition, the clinical presentation is variable within the same family, and the incidence is higher in females 17 – 20 …”

Section: Introductionmentioning

confidence: 99%

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Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

et al. 2021

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Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there is limited data on the genetic basis of PAH in the Arab region, and none from Saudi Arabian patients. This study aims to identify genetic variations and to evaluate the frequency of risk genes associated to PAH, in Saudi Arabian patients. Adult PAH patients, diagnosed with IPAH and pulmonary veno-occlusive disease (PVOD), of Saudi Arabian origin, were enrolled in this study. Forty-eight patients were subjected to whole exome sequencing (WES), with screening of 26 genes suggested to be associated with the disease. The median age at diagnosis was 29.5 years of age, with females accounting for 89.5% of our cohort population. Overall, we identified variations in 9 genes previously associated with PAH, in 16 patients. Fourteen of these variants have not been described before. Plausible deleterious variants in risk genes were identified in 33.3% (n=16/48) of our entire cohort and 25% of these cases carried variants in BMPR2 (n=4/16). Our results highlight the genetic etiology of PAH in Saudi Arabia patients and provides new insights for the genetic diagnosis of familial and IPAH, as well as for the identification of the biological pathways of the disease. This will enable the development of new target therapeutic strategies, for a disease with a high rate of morbidity and mortality.

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Idiopathic Pulmonary Arterial Hypertension in Children: A Review

Cited by 2 publications

References 166 publications

Idiopathic Pulmonary Arterial Hypertension in Paediatrics Represents Still a Serious Challenge: A Case Series Study

Idiopathic Pulmonary Arterial Hypertension in Paediatrics Represents Still a Serious Challenge: A Case Series Study

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

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