Chronic Thromboembolic Pulmonary Hypertension Secondary to Thrombophilia and Incidentally Diagnosed Atrial Septal Defect.
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ABSTRACT:
SUBMITTER: Kilinc M
PROVIDER: S-EPMC8298561 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Patients having atrial septal defect (ASD) with moderate and more importantly severe pulmonary arterial hypertension (PAH) pose a clinical dilemma. Closing ASD in those with irreversible PAH and not closing it when the PAH is reversible can cost patients dearly, both in terms of quality of life and longevity. In our experience, there is no single parameter that can help in decision making in this difficult subset of patients and therefore we recommend a multi-dimensional approach, which takes into consideration clinical, radiological, electrocardiographic and hemodynamic variables as a whole. ASD with restrictive left ventricular (LV) physiology can lead to pulmonary venous hypertension, which can manifest as life threatening acute pulmonary edema following device closure. All high-risk candidates prone to having this combination should be prepared with diuretics and vasodilators prior to bringing them to catheterization laboratory and should be assessed with temporary balloon/device occlusion prior to permanent closure of the defect. In those cases of ASD with borderline operability either due to severe PAH or LV restrictive physiology, perforated device may be helpful in preventing acute or long-term complications of complete closure.
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Project description:We report a case of a 61-year-old woman with a large atrial septal defect (ASD) that was detected incidentally on chest radiography and computed tomography when she presented with sepsis. Echocardiography confirmed a large secundum ASD with left-to-right shunt flow, right heart dilatation and severe pulmonary hypertension. The patient had a poor clinical outcome despite intensive care and eventually passed away. Haemodynamically significant ASDs have a known association with increased morbidity and mortality, and their early detection and closure cannot be understated. This article aimed to highlight the imaging features of ASD, with special emphasis on the routine chest radiograph. The pathophysiology and clinical manifestations of ASD are also briefly discussed.
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Project description:AimsPotts shunt has been proposed as a bridge or alternative to lung transplantation for children with severe and drug-refractory suprasystemic pulmonary arterial hypertension (PAH). We describe the management of the atrial shunt when a Potts shunt is planned in refractory PAH.Methods and resultsWe report a case series of children in whom a Potts shunt was done for severe PAH associated with an atrial septal defect to illustrate the different clinical and haemodynamic scenarios. Five children (2 to 13 years) underwent a Potts shunt: three surgical, one percutaneous Potts shunt, and one percutaneous stenting of a restrictive arterial duct. All had associated atrial septal defect. Those who had generalized cyanosis before the procedure had a complicated postoperative course and required longer ventilatory and inotropic support, except the one who had atrial septal defect closure before the Potts shunt. One of the three cyanotic patients died. Two patients with left-to-right shunt before the Potts shunt had an uncomplicated postoperative course.ConclusionsShunt physiology is only partially predictable after the Potts shunt in children with PAH and atrial septal defect. Abrupt drop in left ventricle preload while the right ventricle is decompressed can potentially be prevented by atrial septal defect closure prior to the Potts shunt.
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Project description:BackgroundThe role of congenital thrombophilia in chronic thromboembolic pulmonary hypertension (CTEPH) remains unresolved.ObjectivesThe purpose of this study was to investigate the prevalence, genetic background, and clinical phenotype of congenital thrombophilia in CTEPH.MethodsIn total, 367 patients with CTEPH from May 2013 to December 2020 were consecutively enrolled in this cross-sectional study in FuWai Hospital and Peking Union Medical College Hospital in China. The primary outcome was the occurrence of congenital thrombophilia diagnosed through tests for congenital anticoagulants activity (including protein C, protein S, and antithrombin III), factor V Leiden and prothrombin G20210A sequence variants. Next-generation sequencing was conducted for patients with congenital thrombophilia. Clinical phenotype was compared between patients with and without thrombophilia.ResultsA total of 36 (9.8%; 95% CI: 6.8%-12.9%) patients were diagnosed as congenital thrombophilia, including 13 protein C deficiency (3.5%; 95% CI: 1.6%-5.4%), 19 protein S deficiency (5.2%; 95% CI: 2.9%-7.5%), and 4 antithrombin III deficiency (1.1%; 95% CI: 0%-2.2%). No factor V Leiden or prothrombin G20210A sequence variants were identified. Genotype for patients with thrombophilia revealed that 10 (76.9%) protein C deficiency patients were PROC sequence variant carriers, 4 (21.1%) protein S deficiency were PROS1 sequence variant carriers, and 2 (50.0%) antithrombin III deficiency were SERPINC1 sequence variant carriers. In the logistic regression model, male sex (OR: 3.24; 95% CI: 1.43-7.31) and proximal lesion in pulmonary arteries (OR: 4.10; 95% CI: 1.91-8.85) had significant differences between the congenital thrombophilia and nonthrombophilia group in CTEPH patients.ConclusionsCongenital thrombophilia was not rare. Male sex and proximal lesion in pulmonary arteries might be the specific clinical phenotype for CTEPH patients with congenital thrombophilia.
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Project description:A 22-year-old male presented with recurrent stroke, central cyanosis, and dyspnea. Transesophageal echocardiography and cardiac catheterization revealed bidirectional shunt flow through atrial septal defect (ASD) without pulmonary arterial hypertension. The orifice of inferior vena cava facing towards ASD opening led partially right to left shunt resulting in cyanosis with normal pulmonary arterial pressure.
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Project description:Chronic thromboembolic pulmonary hypertension (CTEPH) is a complication of pulmonary embolism and a major cause of chronic PH leading to right heart failure and death. Lung ventilation/perfusion scintigraphy is the screening test of choice; a normal scan rules out CTEPH. In the case of an abnormal perfusion scan, a high-quality pulmonary angiogram is necessary to confirm and define the pulmonary vascular involvement and prior to making a treatment decision. PH is confirmed with right heart catheterisation, which is also necessary for treatment determination. In addition to chronic anticoagulation therapy, each patient with CTEPH should receive treatment assessment starting with evaluation for pulmonary endarterectomy, which is the guideline recommended treatment. For technically inoperable cases, PH-targeted medical therapy is recommended (currently riociguat based on the CHEST studies), and balloon pulmonary angioplasty should be considered at a centre experienced with this challenging but potentially effective and complementary intervention.
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Project description:Chronic pulmonary thromboembolic disease is an important cause of severe pulmonary hypertension, and as such is associated with significant morbidity and mortality. The prognosis of this condition reflects the degree of associated right ventricular dysfunction, with predictable mortality related to the severity of the underlying pulmonary hypertension. Left untreated, the prognosis is poor. Pulmonary endarterectomy is the treatment of choice to relieve pulmonary artery obstruction in patients with chronic thromboembolic pulmonary hypertension and has been remarkably successful. Advances in surgical techniques along with the introduction of pulmonary hypertension-specific medication provide therapeutic options for the majority of patients afflicted with the disease. However, a substantial number of patients are not candidates for pulmonary endarterectomy due to either distal pulmonary vascular obstruction or significant comorbidities. Therefore, careful selection of surgical candidates in expert centres is paramount. The current review focuses on the diagnostic approach to chronic thromboembolic pulmonary hypertension and the available surgical and medical therapeutic options.
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