Familial Chronic Thromboembolic Pulmonary Hypertension

Desmarais, Julianna; Elliott, C. Gregory

doi:10.1016/j.chest.2015.09.017

Cited by 8 publications

(4 citation statements)

References 18 publications

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“…In both pedigrees, the index CTEPH case tested negative for both the Factor V Leiden and Prothrombin G20210A variants. The same is true of a prior familial CTEPH pedigree reported by our group, but not included in this analysis 21 . These findings support the notion CTEPH and VTE risk are influenced by shared genetic factors.…”

Section: Pe (N = 157) Cteph (N = 91) P‐valuesupporting

confidence: 87%

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Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

2022

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Chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (PE) are related phenotypes, however, previous reports have suggested that genetic risk factors for CTEPH and PE differ. Here we report that a family history of VTE is equally frequent in individuals with CTEPH and PE, suggesting that shared genetic variants may influence risk of both phenotypes. We also provide the first estimate of the frequency of familial CTEPH, which we identified in 2.2% of CTEPH patients in our cohort.

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Section: Pe (N = 157) Cteph (N = 91) P‐valuesupporting

confidence: 87%

“…The same is true of a prior familial CTEPH pedigree reported by our group, but not included in this analysis. 21 These findings support the notion CTEPH and VTE risk are influenced by shared genetic factors. The segregation of CTEPH in these three pedigrees suggests a dominant inheritance pattern with incomplete penetrance.…”

supporting

confidence: 70%

Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

2022

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“…In contrast, earlier studies could not identify any pathogenic variant in BMPR2 including a total of 124 CTEPH patients [19][20][21][22]. In support of a genetic predisposition three descriptions of familial CTEPH exist albeit without identification of the exact genetic cause [23][24][25]. Thus, considering these reports of identified or suspected genetic predisposition the objective of this study was to systematically screen a CTEPH cohort for PAH and candidate genes predisposing to myeloproliferative disorders for pathogenic variants.…”

Section: Introductionmentioning

confidence: 91%

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study

Eichstaedt

Verweyen

Halank

et al. 2020

IJMS

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Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease which is often caused by recurrent emboli. These are also frequently found in patients with myeloproliferative diseases. While myeloproliferative diseases can be caused by gene defects, the genetic predisposition to CTEPH is largely unexplored. Therefore, the objective of this study was to analyse these genes and further genes involved in pulmonary hypertension in CTEPH patients. A systematic screening was conducted for pathogenic variants using a gene panel based on next generation sequencing. CTEPH was diagnosed according to current guidelines. In this study, out of 40 CTEPH patients 4 (10%) carried pathogenic variants. One patient had a nonsense variant (c.2071A>T p.Lys691*) in the BMPR2 gene and three further patients carried the same pathogenic variant (missense variant, c.1849G>T p.Val617Phe) in the Janus kinase 2 (JAK2) gene. The latter led to a myeloproliferative disease in each patient. The prevalence of this JAK2 variant was significantly higher than expected (p < 0.0001). CTEPH patients may have a genetic predisposition more often than previously thought. The predisposition for myeloproliferative diseases could be an additional risk factor for CTEPH development. Thus, clinical screening for myeloproliferative diseases and genetic testing may be considered also for CTEPH patients.

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“…One case of familial CTEPH has been reported, 40 and BMPR2 mutations have been found in patients with CTEPH. 41 A recent Chinese study found that patients with CTEPH had a higher frequency of mutations in the known PAH-related genes.…”

Section: History Of Pulmonary Embolism (Pe)mentioning

confidence: 99%

Epidemiology and Pathophysiology of Chronic Thromboembolic Pulmonary Hypertension: Risk Factors and Mechanisms

Medrek

Safdar

2016

Methodist DeBakey Cardiovascular Journal

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Chronic thromboembolic pulmonary hypertension (CTEPH) occurs when thromboemboli travel to the pulmonary vasculature, fail to resolve, and cause elevated pulmonary arterial pressure. Untreated, this disease leads to progressive right heart failure and death. It develops in approximately 1% to 5% of patients who suffer an acute pulmonary embolism (PE) and has an overall incidence of 3 to 30 per million in the general population. While it is not entirely evident why most but not all people are able to clear this clot burden, there are known risk factors for the development of CTEPH. These include signs of right heart strain at the time of incident PE, inherited coagulopathies, inflammatory conditions, hypothyroidism, and a history of splenectomy. Since CTEPH can be treated both surgically and medically, it is critical to understand the pathophysiology of the disease so affected patients can be identified and diagnosed appropriately.

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Familial Chronic Thromboembolic Pulmonary Hypertension

Cited by 8 publications

References 18 publications

Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study

Epidemiology and Pathophysiology of Chronic Thromboembolic Pulmonary Hypertension: Risk Factors and Mechanisms

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