scholarly journals Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension

2020 ◽  
Vol 9 (21) ◽  
Author(s):  
Nobuhiro Yaoita ◽  
Kimio Satoh ◽  
Taijyu Satoh ◽  
Toru Shimizu ◽  
Sakae Saito ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Vasculature ◽  
Nonsynonymous Variant ◽  
Whole Exome ◽  
Thromboembolic Pulmonary Hypertension ◽  
History Of ◽  
Pulmonary Arterial

Background Although chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (APE) share some clinical manifestations, a limited proportion of patients with CTEPH have a history of APE. Moreover, in histopathologic studies, it has been revealed that pulmonary vasculature lesions similar to pulmonary arterial hypertension existed in patients with CTEPH. Thus, it remains unknown whether these 3 disorders also share genetic backgrounds. Methods and Results Whole exome screening was performed with DNA isolated from 51 unrelated patients with CTEPH of Japanese ancestry. The frequency of genetic variants associated with pulmonary arterial hypertension or APE in patients with CTEPH was compared with those in the integrative Japanese Genome Variation Database 3.5KJPN. Whole exome screening analysis showed 17 049 nonsynonymous variants in patients with CTEPH. Although we found 6 nonsynonymous variants that are associated with APE in patients with CTEPH, there was no nonsynonymous variant associated with pulmonary arterial hypertension. Patients with CTEPH with a history of APE had nonsynonymous variants of F5 , which encodes factor V. In contrast, patients with CTEPH without a history of APE had a nonsynonymous variant of THBD , which encodes thrombomodulin. Moreover, thrombin‐activatable fibrinolysis inhibitor, which is one of the pathogenic proteins in CTEPH, was significantly more activated in those who had the variants of THBD compared with those without it. Conclusions These results provide the first evidence that patients with CTEPH have some variants associated with APE, regardless of the presence or absence of a history of APE. Furthermore, the variants might be different between patients with CTEPH with and without a history of APE.

scholarly journals Chronic thromboembolic pulmonary hypertension: a distinct disease entity

2015 ◽  
Vol 24 (136) ◽  
pp. 246-252 ◽  
Author(s):  
Irene Lang
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Right Heart Failure ◽  
Pulmonary Vasculature ◽  
Distinct Disease ◽  
Thromboembolic Pulmonary Hypertension ◽  
Perfusion Scan ◽  
Pulmonary Arterial

Chronic thromboembolic pulmonary hypertension (CTEPH) is a distinct subtype of pulmonary hypertension (PH). One disease hypothesis is that CTEPH results from the non-resolution of venous thromboembolism. CTEPH is characterised by the presence of obstructive fibrotic thromboembolic material in the major pulmonary vessels, with concomitant microvascular arteriopathy, resulting in progressive PH. The clinical presentation of CTEPH is similar to pulmonary arterial hypertension with nonspecific symptoms, but it is distinguished from pulmonary arterial hypertension by the presence of mismatched segmental defects on the ventilation/perfusion scan. The exact prevalence and incidence of CTEPH are unknown, but are thought to have been underestimated in the past. CTEPH is unique among the subgroups of PH in that it is potentially curable with pulmonary endarterectomy, a surgical intervention intended to remove the occlusive material from the pulmonary vasculature. However, in some patients the obstructions are technically inaccessible or the risk/benefit ratios are unfavourable, making the condition inoperable. It is thought that the involvement of the smaller, more distal vessels is a target for medical treatment. Untreated, CTEPH may result in right heart failure and death. The pathophysiological mechanisms which cause CTEPH are complex and have not yet been fully elucidated.

Pulmonary Hypertension, Cor Pulmonale, and other Pulmonary Vascular Conditions

2016 ◽  
Author(s):  
Matthew Moll ◽  
Mayank Sardana ◽  
Harrison W. Farber
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Cor Pulmonale ◽  
World Health ◽  
Pulmonary Vasculature ◽  
Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Arterial

This review covers the diseases that affect the pulmonary vasculature directly. These conditions include pulmonary hypertension; pulmonary arterial hypertension; chronic thromboembolic pulmonary hypertension; pulmonary hypertension attributed to left heart disease, lung disease and/or hypoxemia, and other disorders; cor pulmonale; pulmonary atriovenous malformations; and pulmonary aneurysms. Figures show changes in the pulmonary vasculature in pulmonary hypertension, pathways involved in the development of pulmonary hypertension, general guidelines for the evaluation of suspected pulmonary hypertension, enlarged proximal pulmonary arteries with pruning of distal pulmonary vasculature (typical of advanced pulmonary arterial hypertension), the remodeling of the heart and continuous-wave Doppler study results observed with chronic pulmonary hypertension, ventilation and perfusion scans of  the lungs with results typical of chronic thromboembolic pulmonary hypertension, and a general approach to the treatment of patients with pulmonary arterial hypertension. Tables list the revised nomenclature and classification of pulmonary hypertension, the World Health Organization classification of functional capacity in patients with pulmonary hypertension, advanced vascular medications for pulmonary artery hypertension, and perioperative management of pulmonary arterial hypertension. This review contains 8 highly rendered figures, 4 tables, and 118 references.

Pulmonary Hypertension, Cor Pulmonale, and other Pulmonary Vascular Conditions

2018 ◽  
Author(s):  
Matthew Moll ◽  
Mayank Sardana ◽  
Harrison W. Farber
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Cor Pulmonale ◽  
World Health ◽  
Pulmonary Vasculature ◽  
Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Arterial

This review covers the diseases that affect the pulmonary vasculature directly. These conditions include pulmonary hypertension; pulmonary arterial hypertension; chronic thromboembolic pulmonary hypertension; pulmonary hypertension attributed to left heart disease, lung disease and/or hypoxemia, and other disorders; cor pulmonale; pulmonary atriovenous malformations; and pulmonary aneurysms. Figures show changes in the pulmonary vasculature in pulmonary hypertension, pathways involved in the development of pulmonary hypertension, general guidelines for the evaluation of suspected pulmonary hypertension, enlarged proximal pulmonary arteries with pruning of distal pulmonary vasculature (typical of advanced pulmonary arterial hypertension), the remodeling of the heart and continuous-wave Doppler study results observed with chronic pulmonary hypertension, ventilation and perfusion scans of  the lungs with results typical of chronic thromboembolic pulmonary hypertension, and a general approach to the treatment of patients with pulmonary arterial hypertension. Tables list the revised nomenclature and classification of pulmonary hypertension, the World Health Organization classification of functional capacity in patients with pulmonary hypertension, advanced vascular medications for pulmonary artery hypertension, and perioperative management of pulmonary arterial hypertension. This review contains 8 highly rendered figures, 4 tables, and 118 references.

scholarly journals Symptoms, impacts, and suitability of the Pulmonary Arterial Hypertension – Symptoms and Impact (PAH-SYMPACT™) questionnaire in patients with chronic thromboembolic pulmonary hypertension (CTEPH): a qualitative interview study

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Brooke Currie ◽  
Evan Davies ◽  
Amélie Beaudet ◽  
Larissa Stassek ◽  
Leah Kleinman
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Shortness Of Breath ◽  
Response Options ◽  
Qualitative Interview Study ◽  
Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Arterial ◽  
The Impact

Abstract Background Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare form of pulmonary hypertension caused by blood clots and scar tissue in the blood vessels of the lungs. Health-related quality of life is often significantly impaired in patients with CTEPH. However, a better understanding of how CTEPH symptoms affect patients’ lives is needed to optimally assess the impact of the disease and treatment. Objectives This qualitative study aimed to better understand the symptoms of CTEPH and how they affect patients’ lives, as well as to determine the appropriateness of the Pulmonary Arterial Hypertension – Symptoms and Impact (PAH-SYMPACT™) questionnaire for use in this patient population. Methods Adults diagnosed with CTEPH, recruited from two clinical sites in the US, participated in one-to-one qualitative telephone interviews. They described their experience of CTEPH symptoms and the impact these symptoms have on their lives. They also provided feedback on the comprehensibility and relevance of the PAH-SYMPACT™‘s instructions, items, and response options. Results Participants (N = 12) had a mean age of 62.5 years. Two thirds were female and most (83%) had undergone pulmonary endarterectomy and/or balloon pulmonary angioplasty. The most frequently endorsed symptoms were shortness of breath (endorsed by all 12 participants), fatigue (11 participants), and lightheadedness (10 participants). All participants identified shortness of breath as an “extremely important” symptom, and seven participants rated fatigue as “extremely important.” The most frequent impacts of CTEPH were on ability to walk quickly (endorsed by all 12 participants), ability to walk up inclines or stairs (11 participants), and ability to carry things (11 participants). The PAH-SYMPACT™ items were relevant to most participants and reflected their experience of CTEPH. All participants indicated that no important CTEPH symptoms were missing from the PAH-SYMPACT™. Overall, the instructions, items, and response options of the PAH-SYMPACT™ were clear and easy to understand. Conclusions The symptoms and impacts experienced by patients with CTEPH align with items included in the PAH-SYMPACT™. The PAH-SYMPACT™ appears to be fit for purpose for assessing disease status in patients with CTEPH.

scholarly journals Pathophysiology, incidence, management, and consequences of cardiac arrhythmia in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension

2019 ◽  
Vol 9 (1) ◽  
pp. 204589401983489 ◽  
Author(s):  
Meghan M. Cirulis ◽  
John J. Ryan ◽  
Stephen L. Archer
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Molecular Mechanisms ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Outcome Data ◽  
Current Evidence ◽  
Clinical Aspects ◽  
Thromboembolic Pulmonary Hypertension ◽  
Pulmonary Arterial

Arrhythmias are increasingly recognized as serious, end-stage complications of pre-capillary pulmonary hypertension, including pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). Although arrhythmias contribute to symptoms, morbidity, in-hospital mortality, and possibly sudden death in PAH/CTEPH, there remains a paucity of epidemiologic, pathophysiologic, and outcome data to guide management of these patients. This review summarizes the most current evidence on the topic: from the molecular mechanisms driving arrhythmia in the hypertrophied or failing right heart, to the clinical aspects of epidemiology, diagnosis, and management.

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