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Background: The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease.
Methods: Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4.
Results: Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease.
Conclusions: Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.
Download full-text PDF |
Source |
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190146 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232216 | PLOS |
Biochem Genet
December 2024
Intensive Care Unit, The Third Affiliated Hospital of Qiqihar Medical University, Qiqihar, 161099, China.
Pulmonary hypertension (PH) is a progressive disease characterized by vascular reHypoxiaing, endothelial cell dysfunction, and inflammation. Liver Kinase B1 (LKB1, also known as STK11) is a central regulator of cell polarity and energy homeostasis. However, its specific role and mechanism of action in PH remain unclear.
View Article and Find Full Text PDFJ Echocardiogr
December 2024
Department of Radiology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-Ku, Tokyo, 105-8461, Japan.
Background: The current guidelines recommend patient stratification based on transthoracic echocardiography (TTE) to identify individuals with potential pulmonary hypertension (PH). We validated the relationship between PH and the pulmonary artery diameter (PAD) on computed tomography (CT) with peak tricuspid regurgitant velocity (TRV) measured by TTE for referral of patients with suspected PH for TTE screening.
Methods: We performed a retrospective analysis of CT-based PAD of 2356 patients who underwent TTE from February 2, 2013 to December 25, 2019 at our institution.
Int J Cardiovasc Imaging
December 2024
Department of Radiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
To evaluate dual-layer dual-energy computed tomography (dlDECT)-based characterization of thrombus composition for differentiation of acute pulmonary embolism (PE) and chronic thromboembolic pulmonary hypertension (CTEPH). This retrospective single center cohort study included 49 patients with acute PE and 33 patients with CTEPH who underwent CT pulmonary angiography on a dlDECT from 06/2016 to 06/2022. Conventional images), material specific images (virtual non-contrast [VNC], iodine density overlay [IDO], electron density [ED]), and virtual monoenergetic images (VMI) were analyzed.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Geriatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: Pulmonary arterial hypertension (PAH) is a severe and progressive lung disease that significantly impairs patients' health and imposes heavy clinical and economic burdens. Currently, there is a lack of comprehensive epidemiological analysis on the global burden and trends of PAH.
Methods: We estimated the prevalence, mortality, disability-adjusted life years (DALYs) of PAH from 1990 to 2021 using the results of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD).
Cureus
November 2024
Internal Medicine, Robert Wood Johnson (RWJ) Barnabas Health, Long Branch, USA.
Background: Septic shock is defined as sepsis with hypotension requiring vasopressors to maintain a mean arterial pressure above 65 mmHg and having a serum lactate level of more than 2 mmol/L despite adequate volume resuscitation as per the Sepsis-3 criteria. Continuous renal replacement therapy (CRRT) is commonly utilized in septic shock patients for the treatment of acute kidney injury as well as for modulating immune response and maintaining hemodynamic stability.
Methods: We looked at the National Inpatient Sample database in 2019.
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