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2.
Catheter Cardiovasc Interv ; 95(3): 389-397, 2020 02 15.
Article En | MEDLINE | ID: mdl-31778024

OBJECTIVES: Report long-term outcomes of percutaneous intervention in patients with pulmonary vein stenosis (PVS) after pulmonary vein isolation (PVI) from a single center over 16 years. BACKGROUND: Outcome reports of percutaneous intervention for PVS resulting from PVI are limited. METHODS: Retrospective review of all patients with PVS after PVI who underwent percutaneous intervention at the Cleveland Clinic Foundation between January 2000 and December 2016. RESULTS: A total of 205 patients underwent cardiac catheterization for PVS during the study period. Completely occluded veins which could not be recanalized occurred in six patients. Of the remaining 199 patients, 27 (14%) were lost to follow-up, leaving 172 patients with 276 veins for analysis. Balloon angioplasty was performed in 62 veins and stent implantation in 250 (primary in 214, to treat postdilation restenosis in 36). Re-intervention occurred in 45/62 (73%) balloon-dilated veins and 45/250 (18%) stented veins. Freedom from re-intervention at 1 and 5 years was 90 and 73% following stenting versus 40 and 23% following balloon dilation (p < .001, Hazard ratio (HR) = 5.7). Veins with stent diameter ≥7 mm (n = 231) had greater freedom from re-intervention (95% at 1 year, 79% at 5 years) than veins with stents <7 mm (43% at 1 year, 9% at 5 years), p < .001. There was clear symptomatic improvement after intervention and no procedural mortality. CONCLUSIONS: Stent implantation at ≥7 mm for PVS after PVI is associated with low rates of re-intervention, in contrast to balloon dilation and stenting with small conventional stents.


Angioplasty, Balloon , Atrial Fibrillation/surgery , Catheter Ablation/adverse effects , Pulmonary Veins/surgery , Pulmonary Veno-Occlusive Disease/therapy , Adult , Aged , Angioplasty, Balloon/adverse effects , Angioplasty, Balloon/instrumentation , Atrial Fibrillation/diagnosis , Atrial Fibrillation/physiopathology , Female , Humans , Male , Middle Aged , Ohio , Pulmonary Veins/diagnostic imaging , Pulmonary Veins/physiopathology , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/etiology , Pulmonary Veno-Occlusive Disease/physiopathology , Retrospective Studies , Risk Factors , Stents , Time Factors , Treatment Outcome , Vascular Patency
4.
Catheter Cardiovasc Interv ; 95(5): 954-958, 2020 04 01.
Article En | MEDLINE | ID: mdl-31854110

OBJECTIVES: The aim of this study was to describe management of recurrent pulmonary vein stenosis (PVS) and determine if stenting is superior to balloon angioplasty (BA) in preventing subsequent restenosis. BACKGROUND: PVS is a serious complication of atrial fibrillation ablation. BA and stenting are effective therapies; however, restenosis frequently occurs. Here we report management of recurrent stenosis. METHODS: This was a prospective observational study performed from 2000 to 2014. RESULTS: One hundred and thirteen patients with severe PVS underwent intervention in 88 veins treated with BA and 81 treated with stenting. Forty-two patients experienced restenosis. Restenosis was more common in veins treated with BA (RRR 53% [95% CI 32-70%, p = .008]). A second intervention was performed in 41 patients. In the 34 vessels treated with initial BA, 24 were treated for restenosis with a stent and 10 were treated with a second BA. The recurrence rate was 46% in those treated with BA followed by stenting and 50% in those treated with two BA procedures. In the 22 veins treated with initial stenting, 9 were treated with another stent and 13 were treated with BA. The recurrence rate was 44% in those treated with a second stent and 46% for those treated with a stent followed by BA. The risk of a third stenosis was the same among all groups (Analysis of variance [ANOVA] p = .99). Limited sample size precluded analysis of outcome by stent size. CONCLUSIONS: Restenosis occurred in 44% of patients overall. Management is challenging; stenting does not appear to be superior to BA.


Angioplasty, Balloon/instrumentation , Pulmonary Veno-Occlusive Disease/therapy , Stents , Adult , Angioplasty, Balloon/adverse effects , Female , Humans , Male , Middle Aged , Prospective Studies , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/physiopathology , Recurrence , Risk Factors , Severity of Illness Index , Time Factors , Treatment Outcome
6.
Cardiol Young ; 29(7): 983-985, 2019 Jul.
Article En | MEDLINE | ID: mdl-31230600

A percutaneous transcatheter balloon dilation of a pulmonary venous pathway obstruction was successfully performed in a 40-year-old patient after a Mustard procedure. During the procedure, real-time three-dimensional trans-oesophageal echocardiography demonstrated the morphology of the obstruction. Our case highlights the usefulness of real-time three-dimensional trans-oesophageal echocardiography as a guide for transcatheter intervention in the increasing number of adults with CHD.


Angioplasty, Balloon, Coronary , Arterial Switch Operation , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/therapy , Transposition of Great Vessels/complications , Ultrasonography, Interventional , Adult , Echocardiography, Three-Dimensional , Echocardiography, Transesophageal , Humans , Male , Pulmonary Veno-Occlusive Disease/complications , Transposition of Great Vessels/diagnostic imaging , Transposition of Great Vessels/surgery
7.
Am J Pathol ; 189(6): 1159-1175, 2019 06.
Article En | MEDLINE | ID: mdl-30926335

Hepatic veno-occlusive disease (HVOD), alias sinusoidal obstruction syndrome, may develop as a complication of chemotherapy in the setting of hematopoietic stem cell transplantation. HVOD is less frequently described after exposure to chemotherapy in the nontransplant setting and can also be a complication after ingestion of toxins, such as pyrrolizidine alkaloids. Veno-occlusive disease may also affect the lungs, and it is therefore termed pulmonary veno-occlusive disease (PVOD). Similarly, PVOD can develop after exposure to chemotherapeutic agents in the treatment of solid and hematological malignancies. In addition, PVOD has also been linked to autoimmune disorders and occupational solvent exposure. Finally, the heritable form of PVOD is due to biallelic mutations of the EIF2AK4 gene. Both HVOD and PVOD share common histopathological features and pathophysiologic mechanisms. Both clinical disorders are rare complications that can appear after exposure to the common inciting trigger of chemotherapeutic agents. The present review aims to summarize the current knowledge of HVOD and PVOD and to describe both similarities as well as differences regarding both conditions.


Hepatic Veno-Occlusive Disease/pathology , Pulmonary Veno-Occlusive Disease/pathology , Animals , Diagnosis, Differential , Disease Models, Animal , Genetic Predisposition to Disease , Hepatic Veno-Occlusive Disease/diagnosis , Hepatic Veno-Occlusive Disease/etiology , Hepatic Veno-Occlusive Disease/therapy , Humans , Prognosis , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/etiology , Pulmonary Veno-Occlusive Disease/therapy , Rats , Risk Factors
8.
Catheter Cardiovasc Interv ; 94(6): 878-885, 2019 Nov 15.
Article En | MEDLINE | ID: mdl-30790443

Fibrosing mediastinitis is a rare, often debilitating and potentially lethal disease characterized by an exuberant fibroinflammatory response within the mediastinum. Patients typically present with insidious symptoms related to compression of adjacent structures including the esophagus, heart, airways, and cardiac vessels. Fibrosing mediastinitis is most often triggered by Histoplasmosis infection; however, antifungal and anti-inflammatory therapies are largely ineffective. While structural interventions aimed at alleviating obstruction can provide significant palliation, surgical interventions are challenging with high mortality and clinical experience with percutaneous interventions is limited. Here, we will review the presentation, natural history, and treatment of fibrosing mediastinitis, placing particular emphasis on catheter-based therapies.


Airway Obstruction/therapy , Bronchoscopy , Endovascular Procedures , Histoplasmosis/therapy , Mediastinitis/therapy , Pulmonary Veno-Occlusive Disease/therapy , Sclerosis/therapy , Stenosis, Pulmonary Artery/therapy , Adolescent , Adult , Aged , Airway Obstruction/diagnostic imaging , Airway Obstruction/microbiology , Airway Obstruction/mortality , Bronchoscopy/adverse effects , Bronchoscopy/instrumentation , Bronchoscopy/mortality , Child , Endovascular Procedures/adverse effects , Endovascular Procedures/instrumentation , Endovascular Procedures/mortality , Female , Histoplasmosis/diagnostic imaging , Histoplasmosis/microbiology , Histoplasmosis/mortality , Humans , Male , Mediastinitis/diagnostic imaging , Mediastinitis/microbiology , Mediastinitis/mortality , Middle Aged , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/mortality , Risk Factors , Sclerosis/diagnostic imaging , Sclerosis/microbiology , Sclerosis/mortality , Stenosis, Pulmonary Artery/diagnostic imaging , Stenosis, Pulmonary Artery/mortality , Stents , Treatment Outcome , Young Adult
10.
Anesth Analg ; 129(1): 27-40, 2019 07.
Article En | MEDLINE | ID: mdl-30451723

Pulmonary vein stenosis (PVS) is a rare disorder that leads to progressive narrowing of the extrapulmonary veins. PVS has been reported in both children and adults and in its worse iteration leads to pulmonary hypertension, right ventricular failure, and death. Multiple etiologies of PVS have been described in children and adults. This review will focus on intraluminal PVS in children. Intraluminal PVS has an estimated incidence ranging from 0.0017% to 0.03%. It is associated with conditions such as prematurity, bronchopulmonary dysplasia, necrotizing enterocolitis, Smith-Lemli-Opitz syndrome, and Down syndrome. Cardiac catheterization and pulmonary vein angiography are the gold standard for diagnosis and anatomic delineation. Other imaging modalities including magnetic resonance imaging, chest tomography, and transesophageal echocardiography are increasingly being used. Mortality of PVS in children is approximately 50%. Predictors of mortality include involvement of ≥3 pulmonary veins, bilateral pulmonary vein involvement, onset of PVS in infancy, elevated pulmonary artery pressure or systolic pulmonary artery-to-aortic pressure ratio, right ventricular dysfunction, restenosis after surgery, distal/upstream disease, and disease progression to previously uninvolved pulmonary veins. Treatment includes catheter-based pulmonary vein dilations with or without stenting, surgical interventions, medical therapy, and in some instances, lung transplantation. Cardiac catheterization for PVS involves a comprehensive hemodynamic and anatomic assessment of the pulmonary veins as well as therapeutic transcatheter interventions. Several surgical strategies have been used. Sutureless repair is currently most commonly used, but patch venoplasty, endarterectomy, ostial resection, and reimplantation are used in select circumstances as well. Medical therapies such as imatinib mesylate and bevacizumab are increasingly being used in an effort to suppress the myofibroblastic proliferation seen in PVS patients. Lung transplantation has been used as an alternative treatment strategy for end-stage, refractory PVS. Nonetheless, despite the different innovative approaches used, morbidity and mortality remain high. At present, the preferred treatment strategy is frequent reassessment of disease progression to guide use of catheter-based and surgical interventions in conjunction with medical therapy.


Pulmonary Veins , Pulmonary Veno-Occlusive Disease , Age Factors , Child , Child, Preschool , Constriction, Pathologic , Humans , Incidence , Infant , Infant, Newborn , Pulmonary Veins/diagnostic imaging , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/etiology , Pulmonary Veno-Occlusive Disease/mortality , Pulmonary Veno-Occlusive Disease/therapy , Risk Factors , Treatment Outcome
12.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 43(5): 571-576, 2018 May 28.
Article Zh | MEDLINE | ID: mdl-29886475

Pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH) is a rare form of pulmonary vascular disease that causes pulmonary arterial hypertension. The diagnosis of PVOD/PCH can be established by the combination of clinical features, physical examination, radiological findings, lung function, bronchoscopy and other resources. There is no established medical therapy for PVOD/PCH, and the only curative therapy for PVOD/PCH is lung transplantation. A girl with PVOD/PCH was diagnosed in the Second Xiangya Hospital. Combining the characteristics for this case with the relevant literature, we summarized the epidemiology, etiology, diagnosis and treatment for the disease to raise doctors' awareness for this rare disease.


Hemangioma, Capillary , Lung Neoplasms , Pulmonary Veno-Occlusive Disease , Female , Hemangioma, Capillary/complications , Hemangioma, Capillary/diagnosis , Hemangioma, Capillary/therapy , Humans , Hypertension, Pulmonary/etiology , Lung Neoplasms/complications , Lung Neoplasms/diagnosis , Lung Neoplasms/therapy , Pulmonary Artery , Pulmonary Veno-Occlusive Disease/complications , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/therapy
13.
Transplant Proc ; 50(5): 1496-1503, 2018 Jun.
Article En | MEDLINE | ID: mdl-29880377

BACKGROUND: Prognosis assessment of pulmonary hypertension (PH) is multifactorial and placement of patients on the lung transplantation (LT) waiting list requires the weighing of a complex set of criteria. The aim of this retrospective cohort study was to analyze a series of patients treated in our unit at the moment of their inclusion on the LT waiting list and long-term survival after LT. MATERIAL AND METHODS: Baseline characteristics, LT outcomes, and survival were evaluated in all patients diagnosed with pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) who were included on the LT waiting list in 2011-2016. RESULTS: Thirty-three patients were listed with a diagnosis of PAH or PVOD. Patients had an average age of 43 ± 12 years and 71% were female. The median time between PAH diagnosis and inclusion on the LT waiting list was 62.5 months (interquartile range [IQR], 6-93.3 months). Twenty-eight patients (84%) underwent double LT. The difference between the waiting time in urgent cases (1.5 months; IQR, 0.4-4.2 months) and in elective cases (7.4 months; IQR, 2.7-16.2 months) was significant (P < .049). The 28 patients with PAH/PVOD in our hospital had a 95% short-term survival after LT both at 1 and at 3 months, without variance between urgent and elective LT. Longer-term survival rate was 84% both at 12 and 36 months. CONCLUSIONS: There is great complexity in determining the appropriate time for transplantation referral and inclusion on the waiting list for patients with PAH/PVOD so that LT can be more realistically incorporated into the treatment algorithm for PAH. LT offers a good short- and long-term survival in patients with PAH/PVOD.


Extracorporeal Membrane Oxygenation , Hypertension, Pulmonary/therapy , Lung Transplantation/mortality , Adult , Female , Humans , Hypertension, Pulmonary/mortality , Lung Transplantation/adverse effects , Male , Middle Aged , Prognosis , Pulmonary Veno-Occlusive Disease/mortality , Pulmonary Veno-Occlusive Disease/therapy , Retrospective Studies , Waiting Lists
14.
Circ Arrhythm Electrophysiol ; 11(5): e006001, 2018 05.
Article En | MEDLINE | ID: mdl-29752377

BACKGROUND: Pulmonary vein (PV) stenosis remains a feared complication of atrial fibrillation ablation. Little is known about outcomes in patients with severe PV stenosis, especially about repeat ablations. METHODS: In 10 368 patients undergoing atrial fibrillation ablation (2000-2015), computed tomography scans were obtained 3 to 6 months after ablation. The clinical outcomes in severe PV stenosis were determined. RESULTS: Severe PV stenosis was diagnosed in 52 patients (0.5%). This involved mostly the left superior PV (51% of severely stenosed veins). Percutaneous interventions were performed in 43 patients, and complications occurred in 5: 3 PV ruptures, 1 stroke, and 1 phrenic injury. Over a median follow-up of 25 months, 41 (79%) patients remained arrhythmia free. Repeat ablation was performed in 15 patients (7 from the main series and 8 from prior ablation at other institutions); of whom 10 had PV stents in place. Conduction recovery was noted in all but 2 of the stenosed or stented PVs, and areas with recovery were targeted with antral ablation. Lasso entrapment within stents occurred in 2 patients but eventually freed without complications. After redo ablation, preplanned stenting was performed in 3 patients and computed tomographic scans showed progression of concomitant stenoses in 1 patient (moderate to severe). No procedure-related deaths occurred. CONCLUSIONS: The incidence of severe PV stenosis is low but remains associated with significant morbidity. In patients with recurrent arrhythmia, conduction recovery at the stenosed or stented veins is common. Care must be taken to ablate antrally to avoid stenosis progression. In patients with prior PV stents, we suggest to avoid using Lasso.


Atrial Fibrillation/surgery , Catheter Ablation/adverse effects , Endovascular Procedures , Pulmonary Veno-Occlusive Disease/therapy , Aged , Atrial Fibrillation/diagnosis , Atrial Fibrillation/physiopathology , Computed Tomography Angiography , Constriction, Pathologic , Endovascular Procedures/adverse effects , Endovascular Procedures/instrumentation , Female , Humans , Male , Middle Aged , Ohio , Phlebography/methods , Prospective Studies , Pulmonary Veno-Occlusive Disease/diagnostic imaging , Pulmonary Veno-Occlusive Disease/etiology , Recurrence , Registries , Risk Factors , Severity of Illness Index , Stents , Time Factors , Treatment Outcome
15.
Rev Mal Respir ; 35(2): 160-170, 2018 Feb.
Article Fr | MEDLINE | ID: mdl-29501213

Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterized by preferential remodelling of pulmonary venules and angioproliferation. PVOD term includes idiopathic, heritable (biallelic mutations of EIF2AK4 gene), drugs and toxins induced (alkylating agents, organic solvents) and connectivite-associated forms (especially systemic-sclerosis associated form). PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation. Lung biopsy is contraindicated in PVOD due to high risk of life-threatening bleeding. A noninvasive diagnostic approach, including oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest, is used to support a diagnosis of PVOD. PVOD prognosis is worse than other forms of PAH. There is no evidence-based medical therapy for PVOD and life-threatening pulmonary edema may occur following PAH targeted therapy in PVOD. Lung transplantation remains the preferred definitive therapy for eligible patients.


Pulmonary Veno-Occlusive Disease , Animals , Diagnostic Imaging/methods , Disease Models, Animal , Humans , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/epidemiology , Pulmonary Veno-Occlusive Disease/therapy , Rare Diseases/diagnosis , Rare Diseases/epidemiology , Rare Diseases/therapy , Respiratory Function Tests/methods , Risk Factors
18.
Med. clín (Ed. impr.) ; 148(6): 265-270, mar. 2017. graf, ilus
Article Es | IBECS | ID: ibc-160819

La enfermedad venooclusiva pulmonar es una causa rara de hipertensión pulmonar que forma junto a la hemangiomatosis capilar pulmonar una designación especial (subgrupo 1′) dentro del grupo 1 de hipertensión pulmonar en la última clasificación del Simposio Mundial sobre Hipertensión Pulmonar. El reciente descubrimiento de que las mutaciones del gen eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) son responsables de las formas hereditarias de la enfermedad venooclusiva pulmonar, ha provocado que el test genético adquiera un papel determinante en el diagnóstico de estos pacientes. A pesar de los avances en el conocimiento de las bases genéticas, celulares y moleculares de la enfermedad venooclusiva pulmonar en la última década, sigue siendo clásicamente una enfermedad pulmonar rara sin ningún tratamiento farmacológico eficaz aprobado y con un pronóstico muy pobre. El presente documento pretende revisar los avances que se han producido en el conocimiento de esta enfermedad en los últimos años (AU)


Pulmonary veno-occlusive disease is a rare cause of pulmonary hypertension which is part, together with pulmonary capillary hemangiomatosis, of the special designation (subgroup 1’) within pulmonary hypertension group 1 in the latest classification of the pulmonary hypertension World Symposium. Recent discovery that gene mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) are responsible for inherited forms of pulmonary veno-occlusive disease has changed the role of genetic testing, acquiring relevant importance in the diagnosis of these patients. Despite the advances in genetic, cellular and molecular basis knowledge in the last decade, pulmonary veno-occlusive disease remains as a rare aetiology of pulmonary hypertension without any effective medical treatment approved and poor outcomes. This document aims to review the advances occurred in the understanding of pulmonary veno-occlusive disease in the last years (AU)


Humans , Pulmonary Sclerosing Hemangioma/therapy , Hypertension, Pulmonary/therapy , Pulmonary Veno-Occlusive Disease/therapy , Mutation/genetics , Epoprostenol/therapeutic use , Lung Transplantation , Risk Factors , Pulmonary Veno-Occlusive Disease/diagnosis
19.
Lancet Respir Med ; 5(2): 125-134, 2017 02.
Article En | MEDLINE | ID: mdl-28087362

BACKGROUND: Bi-allelic mutations of the EIF2AK4 gene cause heritable pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH). We aimed to assess the effect of EIF2AK4 mutations on the clinical phenotypes and outcomes of PVOD/PCH. METHODS: We did a population-based study using clinical, functional, and haemodynamic data from the registry of the French Pulmonary Hypertension Network. We reviewed the clinical data and outcomes from all patients referred to the French Referral Centre (Pulmonary Department, Hospital Kremlin-Bicêtre, University Paris-Sud) with either confirmed or highly probable PVOD/PCH with DNA available for mutation screening (excluding patients with other risk factors of pulmonary hypertension, such as chronic respiratory diseases). We sequenced the coding sequence and intronic junctions of the EIF2AK4 gene, and compared clinical characteristics and outcomes between EIF2AK4 mutation carriers and non-carriers. Medical therapies approved for pulmonary arterial hypertension (prostacyclin derivatives, endothelin receptor antagonists and phosphodiesterase type-5 inhibitors) were given to patients according to the clinical judgment and discretion of treating physicians. The primary outcome was the event-free survival (death or transplantation). Secondary outcomes included response to therapies for pulmonary arterial hypertension and survival after lung transplantation. A satisfactory clinical response to specific therapy for pulmonary arterial hypertension was defined by achieving New York Heart Association functional class I or II, a 6-min walk distance of more than 440 m, and a cardiac index greater than 2·5 L/min per m2 at the first reassessment after initiation of specific therapy for pulmonary arterial hypertension. FINDINGS: We obtained data from Jan 1, 2003, to June 1, 2016, and identified 94 patients with sporadic or heritable PVOD/PCH (confirmed or highly probable). 27 (29%) of these patients had bi-allelic EIF2AK4 mutations. PVOD/PCH due to EIF2AK4 mutations occurred from birth to age 50 years, and these patients were younger at presentation than non-carriers (median 26·0 years [range 0-50.3] vs 60·0 years [6·7-81·4] years; p<0·0001). At diagnosis, both mutations carriers and non-carriers had similarly severe precapillary pulmonary hypertension and functional impairment. 22 (81%) of mutations carriers and 63 (94%) of non-carriers received therapy approved for pulmonary arterial hypertension. Drug-induced pulmonary oedema occurred in five (23%) of treated EIF2AK4 mutations carriers and 13 (21%) of treated non-carriers. Follow-up assessment after initiation of treatment showed that only three (4%) patients with PVOD/PCH reached the predefined criteria for satisfactory clinical response. The probabilities of event-free survival (death or transplantation) at 1 and 3 years were 63% and 32% in EIF2AK4 mutations carriers, and 75% and 34% in non-carriers. No significant differences occurred in event-free survival between the 2 groups (p=0·38). Among the 33 patients who had lung transplantation, estimated post-transplantation survival rates at 1, 2, and 5 years were 84%, 81%, and 73%, respectively. INTERPRETATION: Heritable PVOD/PCH due to bi-allelic EIF2AK4 mutations is characterised by a younger age at diagnosis but these patients display similar disease severity compared with mutation non-carriers. Response to therapy approved for pulmonary arterial hypertension in PVOD/PCH is rare. PVOD/PCH is a devastating condition and lung transplantation should be considered for eligible patients. FUNDING: None.


Familial Primary Pulmonary Hypertension/genetics , Hemangioma, Capillary/genetics , Hypertension, Pulmonary/genetics , Lung Neoplasms/genetics , Phenotype , Protein-Serine-Threonine Kinases/genetics , Pulmonary Veno-Occlusive Disease/genetics , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Alleles , Child , Child, Preschool , Disease-Free Survival , Familial Primary Pulmonary Hypertension/mortality , Familial Primary Pulmonary Hypertension/therapy , Female , Hemangioma, Capillary/mortality , Hemangioma, Capillary/therapy , Humans , Hypertension, Pulmonary/mortality , Hypertension, Pulmonary/therapy , Infant , Infant, Newborn , Lung Neoplasms/mortality , Lung Neoplasms/therapy , Lung Transplantation , Male , Middle Aged , Mutation , Pulmonary Veno-Occlusive Disease/mortality , Pulmonary Veno-Occlusive Disease/therapy , Treatment Outcome , Young Adult
20.
Med Clin (Barc) ; 148(6): 265-270, 2017 Mar 22.
Article En, Es | MEDLINE | ID: mdl-28118962

Pulmonary veno-occlusive disease is a rare cause of pulmonary hypertension which is part, together with pulmonary capillary hemangiomatosis, of the special designation (subgroup 1') within pulmonary hypertension group 1 in the latest classification of the pulmonary hypertension World Symposium. Recent discovery that gene mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) are responsible for inherited forms of pulmonary veno-occlusive disease has changed the role of genetic testing, acquiring relevant importance in the diagnosis of these patients. Despite the advances in genetic, cellular and molecular basis knowledge in the last decade, pulmonary veno-occlusive disease remains as a rare aetiology of pulmonary hypertension without any effective medical treatment approved and poor outcomes. This document aims to review the advances occurred in the understanding of pulmonary veno-occlusive disease in the last years.


Hemangioma, Capillary/complications , Hypertension, Pulmonary/etiology , Lung Neoplasms/complications , Pulmonary Veno-Occlusive Disease/complications , Hemangioma, Capillary/diagnosis , Hemangioma, Capillary/therapy , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/therapy , Pulmonary Veno-Occlusive Disease/diagnosis , Pulmonary Veno-Occlusive Disease/therapy , Risk Factors
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