Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1)

A 56-year-old woman was diagnosed as having chronic obstructive pulmonary disease with heavy smoking. Mild pulmonary hypertension (mean pulmonary arterial pressure: 31 mmHg) was detected at the first visit. She was diagnosed with pulmonary hypertension due to pulmonary disease and medicated only with bronchodilators. Simultaneous, multiple freckling in the trunk of her body and café au lait macules in her back with some cutaneous neurofibromas were also detected. A plastic surgeon removed one of the neurofibromas and pathologically diagnosed it as neurofibromatosis type 1 (NF1). We finally rediagnosed her with pulmonary hypertension with unclear and/or multifactorial factors when she deteriorated 1 year after being treated only with bronchodilators. We then administrated upfront combination therapy with macitentan and tadalafil. Mean pulmonary arterial pressure rapidly improved. Learning Objective. Pulmonary arterial hypertension (PAH) in neurofibromatosis type 1 (NF1) can occur due to lung disease or due to certain involvement of pulmonary arteries, or a combination of both. Increased awareness of PAH in NF1 is very important for patients survival. The current therapeutic strategy is almost identical to that of idiopathic PAH; however, there is no clinical evidence. Insights gained from clinical experiences should help identify promising novel therapeutic approaches in NF1-PAH.

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New potential diagnostic biomarkers for pulmonary hypertension

European Respiratory Journal ◽

10.1183/13993003.00187-2015 ◽

2015 ◽

Vol 46 (5) ◽

pp. 1390-1396 ◽

Cited By ~ 15

Author(s):

Svenja L. Tiede ◽

Henning Gall ◽

Oliver Dörr ◽

Marina dos Santos Guilherme ◽

Christian Troidl ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Growth Factor ◽

Pulmonary Arterial Hypertension ◽

Arterial Pressure ◽

Arterial Hypertension ◽

Lung Disease ◽

Pulmonary Arterial Pressure ◽

Diagnostic Biomarkers ◽

Mean Pulmonary Arterial Pressure ◽

Pulmonary Arterial

This study aimed to determine whether the vascular endothelial growth factor (VEGF) family members soluble VEGF receptor 1 (also called soluble fms-like tyrosine kinase 1 (sFlt-1)) and placental growth factor (PlGF) could be used as biomarkers for pulmonary hypertension (PH).Consecutive patients undergoing right heart catheterisation were enrolled (those with mean pulmonary arterial pressure ≥25 mmHg were classed as having PH; those with mean pulmonary arterial pressure <25 mmHg acted as non-PH controls). Plasma from the time of PH diagnosis was analysed for PlGF and sFlt-1 using enzyme immunoassays.In total, 247 patients with PH were enrolled: 62 with idiopathic pulmonary arterial hypertension (IPAH), 14 with associated pulmonary arterial hypertension (APAH), 21 with collagen vascular disease (CVD), 26 with pulmonary venous hypertension, 67 with lung disease-associated PH and 57 with chronic thromboembolic PH. The non-PH control group consisted of 40 patients. sFlt-1 plasma levels were significantly higher in patients with IPAH, APAH, CVD and lung disease-associated PH versus controls; PlGF levels were significantly higher in all PH groups versus controls. The combination of sFlt-1 and PlGF resulted in a sensitivity of 83.7% with specificity of 100% for pulmonary arterial hypertension. There was no association between sFlt-1 or PlGF and haemodynamic parameters, 6-min walking distance or survival.In summary, PlGF and sFlt-1 are promising diagnostic biomarkers for PH.

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Right ventricle performances with echocardiography and 99mTc myocardial perfusion imaging in pulmonary arterial hypertension patients

Experimental Biology and Medicine ◽

10.1177/1535370218775321 ◽

2018 ◽

Vol 243 (9) ◽

pp. 754-761

Author(s):

Jie Liu ◽

Lei Fei ◽

Guang-Qing Huang ◽

Xiao-Ke Shang ◽

Mei Liu ◽

...

Keyword(s):

Pulmonary Arterial Hypertension ◽

Myocardial Perfusion ◽

Arterial Pressure ◽

Right Ventricle ◽

Arterial Hypertension ◽

Pulmonary Arterial Pressure ◽

Right Heart Catheterization ◽

Heart Catheterization ◽

Mean Pulmonary Arterial Pressure ◽

Pulmonary Arterial

Right heart catheterization is commonly used to measure right ventricle hemodynamic parameters and is the gold standard for pulmonary arterial hypertension diagnosis; however, it is not suitable for patients’ long-term follow-up. Non-invasive echocardiography and nuclear medicine have been applied to measure right ventricle anatomy and function, but the guidelines for the usefulness of clinical parameters remain to be established. The goal of this study is to identify reliable clinical parameters of right ventricle function in pulmonary arterial hypertension patients and analyze the relationship of these clinical parameters with the disease severity of pulmonary arterial hypertension. In this study, 23 normal subjects and 23 pulmonary arterial hypertension patients were recruited from January 2015 to March 2016. Pulmonary arterial hypertension patients were classified into moderate and severe pulmonary arterial hypertension groups according to their mean pulmonary arterial pressure levels. All the subjects were subjected to physical examination, chest X-ray, 12-lead electrocardiogram, right heart catheterization, two-dimensional echocardiography, and technetium 99m (99mTc) myocardial perfusion imaging. Compared to normal subjects, the right heart catheterization indexes including right ventricle systolic pressure, right ventricle end diastolic pressure, pulmonary artery systolic pressure, pulmonary artery diastolic pressure, pulmonary vascular resistance, and right ventricle end systolic pressure increased in pulmonary arterial hypertension patients and were correlated with mean pulmonary arterial pressure levels. Echocardiography parameters, including tricuspid regurgitation peak velocity, tricuspid regurgitation pressure gradient, tricuspid annular plane systolic excursion and fractional area, right ventricle-myocardial performance index, were significantly associated with the mean pulmonary arterial pressure levels in pulmonary arterial hypertension patients. Furthermore, myocardial perfusion imaging was not observed in the normal subjects but in pulmonary arterial hypertension patients, especially severe pulmonary arterial hypertension subgroup, and showed potential diagnostic properties for pulmonary arterial hypertension. In conclusion, mean pulmonary arterial pressure levels are correlated with several right heart catheterization and echocardiography markers in pulmonary arterial hypertension patients; echocardiography and 99mTc myocardial perfusion can be used to evaluate right ventricle performance in pulmonary arterial hypertension patients. Impact statement In this study, we analyzed the clinical parameters for evaluating RV function, including right ventricle catheterization (RHC), echocardiography, and technetium 99m (99mTc) myocardial perfusion imaging (MPI) in normal Asian subjects and PAH patients ( n = 23 for each group). Our results demonstrated that six RHC indexes, four echocardiography indexes and MPI index were significantly altered in PAH patients and correlated with the levels of mean pulmonary arterial pressure. Importantly, we evaluated the diagnostic performance of MPI and found that MPI has a strong diagnostic accuracy in PAH patients. The findings from this study will be of interest to clinical investigators who make diagnosis and therapeutic strategies for PAH patients.

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Pulmonary Arterial Hypertension in Systemic Lupus Erythematosus: Prevalence and Predictors

The Journal of Rheumatology ◽

10.3899/jrheum.150451 ◽

2015 ◽

Vol 43 (2) ◽

pp. 323-329 ◽

Cited By ~ 10

Author(s):

Gregorio Miguel Pérez-Peñate ◽

Iñigo Rúa-Figueroa ◽

Gabriel Juliá-Serdá ◽

Fernándo León-Marrero ◽

Antonio García-Quintana ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Pulmonary Hypertension ◽

Pulmonary Arterial Hypertension ◽

Arterial Pressure ◽

Arterial Hypertension ◽

Diastolic Dysfunction ◽

Lupus Erythematosus ◽

Pulmonary Arterial Pressure ◽

Systemic Lupus ◽

Pulmonary Arterial

Objective.Pulmonary arterial hypertension (PAH) prevalence has been reported to be between 0.5% and 17% in systemic lupus erythematosus (SLE). This study assessed PAH prevalence and predictors in an SLE cohort.Methods.The Borg dyspnea scale, DLCO, N-terminal pro–brain natriuretic peptide (NT-proBNP), and Doppler echocardiographic (DE) were performed. An echocardiographic Doppler exercise test was conducted in selected patients. When DE systolic pulmonary arterial pressure was ≥ 45 mmHg or increased during exercise > 20 mmHg, a right heart catheterization was performed. Hemodynamic during exercise was measured if rest mean pulmonary arterial pressure was < 25 mmHg.Results.Of the 203 patients with SLE, 152 were included. The mean age was 44.9 ± 12.3 years, and 94% were women. Three patients had known PAH. The algorithm diagnosed 1 patient with chronic thromboembolic pulmonary hypertension and 5 with exercise-induced pulmonary artery pressure increase (4 with occult left diastolic dysfunction). These patients had significantly more dyspnea, higher NT-proBNP, and lower DLCO.Conclusion.These data confirm the low prevalence of PAH in SLE. In our cohort, occult left ventricular diastolic dysfunction was a frequent diagnosis of unexplained dyspnea. Dyspnea, DLCO, and NT-proBNP could be predictors of pulmonary hypertension in patients with SLE.

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Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

Respiratory Medicine Case Reports ◽

10.1016/j.rmcr.2019.100832 ◽

2019 ◽

Vol 27 ◽

pp. 100832

Author(s):

Melanie Rojas ◽

Ateeq Mubarik ◽

Elizabeth Ann Henderson ◽

Fatima Agha ◽

Lakshpaul Chauhan ◽

...

Keyword(s):

Pulmonary Arterial Hypertension ◽

Arterial Hypertension ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Fatal Complication ◽

Pulmonary Arterial

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Pulmonary Arterial Hypertension in Neurofibromatosis Type 1

CHEST Journal ◽

10.1016/j.chest.2017.08.1050 ◽

2017 ◽

Vol 152 (4) ◽

pp. A1017

Author(s):

Amirahwaty Abdullah ◽

Lydia Winnicka ◽

James Walsh

Keyword(s):

Pulmonary Arterial Hypertension ◽

Arterial Hypertension ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Pulmonary Arterial

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Features of clinical, functional and hemodynamics profile, medical treatment and prognosis evaluation in patients with inoperable chronic thromboembolic pulmonary hypertension and idiopathic pulmonary arterial hypertension according to the Russian registry

Terapevticheskii arkhiv ◽

10.26442/00403660.2019.09.000343 ◽

2019 ◽

Vol 91 (9) ◽

pp. 77-87 ◽

Cited By ~ 1

Author(s):

I E Chazova ◽

Z S Valieva ◽

S N Nakonechnikov ◽

I N Taran ◽

T V Martynyuk

Keyword(s):

Pulmonary Hypertension ◽

Pulmonary Arterial Hypertension ◽

Arterial Pressure ◽

Pulmonary Arterial Pressure ◽

Chronic Thromboembolic Pulmonary Hypertension ◽

Idiopathic Pulmonary Arterial Hypertension ◽

Mean Pulmonary Arterial Pressure ◽

Thromboembolic Pulmonary Hypertension ◽

Pulmonary Arterial ◽

The Right

Aim: to perform the complex analysis of clinical, functional, hemodynamics profile in patients with inoperable chronic thromboembolic pulmonary hypertension (CTEPH) compared to the idiopathic pulmonary arterial hypertension (IPAH) group at the time of diagnosis verification according to the Russian registry, and to evaluate the features of medical therapy and it’s influence on prognosis in these patients. Materials and methods. In the retrospective study 193 patients with IPAH and 130 patients with inoperable CTEPH older than 18 years were included. All included patients were the participants of Russian registry (www.medibase.pro) in 15 Russian expert centers during the period from 01.01.2012 to 31.12.2018 year. The diagnosis was verified according to the algorithm, reflected in the Russian guidelines on diagnosis and treatment of PH and CTEPH (2016 year). The comparison analysis of clinical, functional, hemodynamics parameters in patients with IPAH and inoperable CTEPH was made. Results. The status of 193 patients with IPAH (32 male and 162 female) and 130 patients with inoperable CTEPH - (40 male and 90 female) was analyzed during the study. The CTEPH patients were older compared to the IPAH patients: 52.2 [41.1; 60.6] and 36.5 [26.8; 36.5] years, respectively. The median period since symptom occurrence till CTEPH verification was 1.08 [0.2; 3.1] years, in IPAH patients - 2.01 [0.6; 4.2] years. More than 80% of inoperable CTEPH patients had III and IV functional class (FC) according to the World Health Organization classification at the time of diagnosis verification versus 61% of IPAH patients. According to echocardiography the level of mean pulmonary arterial pressure was comparable in two groups of PH patients. However in inoperable CTEPH patients the right atrial area was larger. The significantly higher value of mean pulmonary arterial pressure and lower value oxygen saturation of arterial blood according to the right heart catheterization were revealed. The 5-year survival in CTEPH patients, receiving initial dual combination therapy in 75% cases (in 40% - combination of riociguat and iloprost ) was 93% versus 86.5% in patients with IPAH. Conclusion: It was revealed, that inoperable CTEPH patients were significantly older with severe functional and hemodynamics status at the time of diagnosis verification, although with higher level of 5-year survival compared to the IPAH patients according to the Russian registry.

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Continuous real-time monitoring of pulmonary arterial pressure using a tip deflecting microcatheter in an infant with pulmonary arterial hypertension

Cardiology in the Young ◽

10.1017/s1047951120001286 ◽

2020 ◽

Vol 30 (7) ◽

pp. 1032-1034

Author(s):

Atsushi Tanaka ◽

Yuichiro Sugitani ◽

Jun Muneuchi

Keyword(s):

Pulmonary Arterial Hypertension ◽

Arterial Pressure ◽

Arterial Hypertension ◽

Real Time ◽

Pulmonary Arterial Pressure ◽

Real Time Monitoring ◽

Mean Pulmonary Arterial Pressure ◽

Pulmonary Arterial ◽

Anomalous Pulmonary Venous Connection ◽

Severe Pulmonary Arterial Hypertension

AbstractWe present the case of a 3-month-old boy with pulmonary arterial hypertension after corrective repair of total anomalous pulmonary venous connection. The patient developed severe pulmonary arterial hypertension with a high mean pulmonary arterial pressure of 45 mmHg. We performed continuous monitoring of pulmonary arterial pressure using a tip deflecting microcatheter in the intensive care unit. We successfully managed this patient based on real-time pulmonary arterial pressure measurements. Continuous real-time monitoring of pulmonary arterial pressure using this microcatheter enables individualized targeted therapy for infants with pulmonary arterial hypertension.

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