scholarly journals Genetic analyses in a cohort of children with pulmonary hypertension

2016 ◽  
Vol 48 (4) ◽  
pp. 1118-1126 ◽  
Author(s):  
Marilyne Levy ◽  
Mélanie Eyries ◽  
Isabelle Szezepanski ◽  
Magalie Ladouceur ◽  
Sophie Nadaud ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Genetic Architecture ◽  
Severe Disease ◽  
Childhood Onset ◽  
First Line ◽  
First Line Therapy ◽  
Mutation Carriers ◽  
Paediatric Cohort ◽  
Pulmonary Arterial ◽  
Index Cases

The prevalence of germline mutations in paediatric pulmonary hypertension (PH) is poorly documented. The objective of this study was to determine the mutation frequency in PH genes in a paediatric cohort and describe the clinical characteristics of mutation carriers.The study involved 66 index cases with PH: 35 children with idiopathic pulmonary arterial hypertension (IPAH); five children with familial PAH (FPAH); three children with pulmonary veno-occlusive disease (PVOD); and 23 children with PAH associated with congenital heart disease (APAH-CHD).No mutations were found in the 23 children with APAH-CHD. In the 40 children with IPAH or FPAH, 12 mutations were found: five on BMPR2; four on ACVRL1; and three on TBX4. In the three PVOD cases, two carried the EIF2AK4 mutation. Mutation carriers had a more severe disease at diagnosis and more aggressive first-line therapy was required. The three patients with PVOD had a very severe disease at diagnosis and required a lung transplantation.The genetic architecture of paediatric PAH is enriched in ACVRL1 and TBX4 mutations compared to adult PAH, but further studies are required to confirm these results. Childhood-onset PAH in children carrying a mutation in one of the genes tested has a more severe presentation at diagnosis but a similar outcome to that observed in non-carriers.

scholarly journals The soluble guanylate cyclase stimulator riociguat is the first-line therapy for chronic thromboembolic pulmonary hypertension patients

Kardiologiia ◽  
2020 ◽  
Vol 60 (8) ◽  
pp. 115-123
Author(s):  
Z. S. Valieva ◽  
S. E. Gratsianskaya ◽  
T. V. Martynyuk
Keyword(s):  
Pulmonary Hypertension ◽  
Guanylate Cyclase ◽  
Soluble Guanylate Cyclase ◽  
Pulmonary Arteries ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
First Line ◽  
Pulmonary Thromboendarterectomy ◽  
First Line Therapy ◽  
Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Microcirculation

Chronic thromboembolic pulmonary hypertension (CTEPH) is a precapillary type of pulmonary hypertension with chronic obstruction of large and medium branches of pulmonary arteries along with secondary alterations in pulmonary microcirculation, which cause progressive increases in pulmonary vascular resistance and pulmonary arterial pressure and ensuing severe right heart dysfunction and heart failure. Pulmonary thromboendarterectomy (PTE) is the treatment of choice for CTEPH; however, this procedure is available not for all patients. Although the surgery performed in the conditions of centers with advanced experience generally shows good results, up to 40% of patients are technically inoperable or PTE is associated with a high risk of complications. At present, riociguat, the only officially approved drug from the class of soluble guanylate cyclase stimulators, is considered as a first-line treatment for inoperable and residual forms of STEPH. Introduction of riociguat to clinical practice can be called a real breakthrough in the treatment of patients with STEPH who cannot undergo PTE or those with relapse or persistent STEPH after the surgery.

Screening for pulmonary arterial hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2506-2507
Author(s):  
John Coghlan
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Portal Hypertension ◽  
Congenital Heart ◽  
Diagnostic Tools ◽  
Primary Screening ◽  
Mutation Carriers ◽  
Pulmonary Arterial ◽  
Hypertension Screening ◽  
Low Prevalence

Screening programmes for pulmonary hypertension are justifiable in some circumstances but not others. The inherent inaccuracies of the diagnostic tools and the low prevalence of pulmonary hypertension renders screening programmes ineffective unless the population evaluated with the primary screening tool (echocardiography) can be enriched. At the recent World Symposium of Pulmonary Hypertension screening programmes were recommended in asymptomatic systemic sclerosis, BMPR2 mutation carriers, patients with portal hypertension, and some groups with HIV, hereditary telangiectasis(HHT) or mutation carriers for HHT and congenital heart disease.

Life-threatening complications of pulmonary hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2497-2500
Author(s):  
Marion Delcroix ◽  
Catharina Belge
Keyword(s):  
Heart Failure ◽  
Pulmonary Hypertension ◽  
Coronary Artery ◽  
Pulmonary Arterial Hypertension ◽  
Severe Disease ◽  
Right Heart Failure ◽  
Artery Dissection ◽  
Life Threatening ◽  
Pulmonary Arterial ◽  
Arterial Dilation

Pulmonary arterial hypertension is a severe disease with a 1-year mortality of over 10%. Since it is a rare disease, it is usually managed in expert centres. However, life-threatening complications can occur at any moment and place and should be adequately taken care of to prevent avoidable deaths. Therefore, based on an analysis of the causes of death, this chapter describes the most important complications and their management: right heart failure, arrhythmias, haemoptysis, pericardial effusion, pulmonary arterial dilation with as a consequence left main coronary artery compression, and pulmonary artery dissection, as well as treatment-related adverse events.

scholarly journals Acute vasoreactivity testing in pediatric idiopathic pulmonary arterial hypertension: an international survey on current practice

2019 ◽  
Vol 9 (4) ◽  
pp. 204589401985753
Author(s):  
Lina Caicedo ◽  
Rachel Hopper ◽  
Humberto Garcia Aguilar ◽  
Dunbar Ivy ◽  
Dora Haag ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Functional Class ◽  
Idiopathic Pulmonary Arterial Hypertension ◽  
Clinical Criteria ◽  
First Line Therapy ◽  
Specific Protocol ◽  
The World ◽  
Pulmonary Arterial

The aim of this study was to determine practice patterns and inter-institutional variability in how acute vasoreactivity testing (AVT) is performed and interpreted in pediatrics throughout the world. A survey was offered to physicians affiliated with the Pediatric & Congenital Heart Disease Taskforce of the Pulmonary Vascular Research Institute (PVRI), the Pediatric Pulmonary Hypertension Network (PPHNET), or the Spanish Registry for Pediatric Pulmonary Hypertension (REHIPED), from February to December 2016. The survey requested data about the site-specific protocol for AVT and subsequent management of pediatric patients with idiopathic pulmonary arterial hypertension (IPAH) or heritable PAH (HPAH). Twenty-eight centers from 13 countries answered the survey. AVT is performed in most centers using inhaled nitric oxide (iNO). Sitbon criteria was used in 39% of the centers, Barst criteria in 43%, and other criteria in 18%. First-line therapy for positive AVT responders in functional class (FC) I/II was calcium channel blocker (CCB) in 89%, but only in 68% as monotherapy. Most centers (71%) re-evaluated AVT-positive patients hemodynamics after 6–12 months; 29% of centers re-evaluated based only on clinical criteria. Most centers (64%) considered a good response as remaining in FC I or II, with near normalization of pulmonary arterial pressure and pulmonary vascular resistance, but a stable FC I/II alone was sufficient criteria in 25% of sites. Protocols and diagnostic criteria for AVT, and therapeutic approaches during follow-up, were highly variable across the world. Reported clinical practice is not fully congruent with current guidelines, suggesting the need for additional studies that better define the prognostic value of AVT for pediatric IPAH patients.

scholarly journals Genetic counselling in a national referral centre for pulmonary hypertension

2015 ◽  
Vol 47 (2) ◽  
pp. 541-552 ◽  
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Xavier Jaïs ◽  
Mélanie Eyries ◽  
Azzedine Yaici ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Family History ◽  
Genetic Counselling ◽  
Screening Programme ◽  
Genetic Diagnosis ◽  
Referral Centre ◽  
Mutation Carriers ◽  
Predisposing Genes ◽  
History Of ◽  
Pulmonary Arterial

Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD. Pre-symptomatic genetic diagnosis was offered to 272 relatives of heritable PAH patients, identifying mutations in 36.4% of them. A screening programme is now offered to asymptomatic mutation carriers to detect PAH in an early phase and to identify predictors of outcomes in asymptomatic BMPR2 mutation carriers. BMPR2 screening allowed us to offer pre-implantation diagnosis to two couples with a BMPR2 mutation.Genetic counselling can be implemented in pulmonary hypertension centres.

scholarly journals Understanding the current status of patients with pulmonary hypertension during COVID-19 outbreak: a small-scale national survey from China

2020 ◽  
Vol 10 (2) ◽  
pp. 204589402092456 ◽  
Author(s):  
Hongmei Zhou ◽  
Gangcheng Zhang ◽  
Xiaoxian Deng ◽  
Bowen Jin ◽  
Qiu Qiu ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Medical Care ◽  
National Survey ◽  
Heart Function ◽  
Severe Disease ◽  
Family Members ◽  
Living Condition ◽  
Current Status ◽  
Small Scale ◽  
Pulmonary Arterial

Pulmonary hypertension is a chronic disease developing progressively with high mortality. Pulmonary hypertension patients need persistent medical care; however, limited reports focused on them when there was an outbreak of coronavirus disease 2019 in China. This national survey was aimed to evaluate the overall condition of pulmonary hypertension patients during this period. A questionnaire regarding the living condition of pulmonary hypertension patients during coronavirus disease 2019 was designed by pulmonary hypertension diagnostic experts in Wuhan Asia Heart Hospital. Pulmonary hypertension patients and their family members were invited to participate in this survey online. One-hundred twenty pulmonary hypertension patients and 23 family members participated in the survey; 64.8% ( n = 87) participants came from Hubei, and others were from 15 other provinces; 98.6% ( n = 141) participants were in home quarantine; 65.8% ( n = 79) were pulmonary arterial hypertension associated with congenital heart disease; and 76.7% ( n = 92) patients proclaimed their heart function was well maintained at class I or II. One (0.8%) patient was confirmed severe acute respiratory syndrome coronavirus 2 infection. Two (1.7%) patients were hospitalized due to heart function worsening. Nearly 70% ( n = 100) participants implied shortage in medications during coronavirus disease 2019 outbreak. A total of 24.2% ( n = 29) patients indicated that medications were discontinued due to the insufficient supply. Most of the participants stayed optimistic on either coronavirus disease 2019 outbreak or their pulmonary hypertension disease, and 61.7% ( n = 74) patients would go to the hospital for follow-up immediately after outbreak. These preliminary data show pulmonary hypertension patients are able to avoid severe disease when they are in home quarantine. Medication supplement is important for pulmonary hypertension patients when their heart function is well maintained. In addition, there might be increasing requirements of medical care for pulmonary hypertension patients after the outbreak.

scholarly journals Inhaled Iloprost as a First-Line Therapy for Persistent Pulmonary Hypertension of the Newborn

2019 ◽  
Vol 26 (4) ◽  
pp. 191-197
Author(s):  
Seung Hyun Kim ◽  
Hyun Ju Lee ◽  
Nam Su Kim ◽  
Hyun-Kyung Park
Keyword(s):  
Pulmonary Hypertension ◽  
Persistent Pulmonary Hypertension ◽  
First Line ◽  
First Line Therapy ◽  
Line Therapy ◽  
Inhaled Iloprost
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