Genetic cause of pulmonary veno-occlusive disease
Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly prog...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Lung India |
| Subjects: | |
| Online Access: | http://www.lungindia.com/article.asp?issn=0970-2113;year=2022;volume=39;issue=2;spage=191;epage=194;aulast=Mohite |
| _version_ | 1818906228196114432 |
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| author | Kaustubh Mohite Anil Kumar Sapare |
| author_facet | Kaustubh Mohite Anil Kumar Sapare |
| author_sort | Kaustubh Mohite |
| collection | DOAJ |
| description | Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly progressive disease, early diagnosis is of utmost importance which helps to initiate appropriate treatment. Recent studies suggest that PVOD has a genetic predisposition and has an autosomal recessive pattern of inheritance. Here, we discuss the case of siblings diagnosed with PVOD to have such genetic predisposition for this disease. |
| first_indexed | 2024-12-19T21:35:53Z |
| format | Article |
| id | doaj.art-2b8733649ce2410986b8a56c4848b042 |
| institution | Directory Open Access Journal |
| issn | 0970-2113 0974-598X |
| language | English |
| last_indexed | 2024-12-19T21:35:53Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Lung India |
| spelling | doaj.art-2b8733649ce2410986b8a56c4848b0422022-12-21T20:04:47ZengWolters Kluwer Medknow PublicationsLung India0970-21130974-598X2022-01-0139219119410.4103/lungindia.lungindia_252_21Genetic cause of pulmonary veno-occlusive diseaseKaustubh MohiteAnil Kumar SaparePulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly progressive disease, early diagnosis is of utmost importance which helps to initiate appropriate treatment. Recent studies suggest that PVOD has a genetic predisposition and has an autosomal recessive pattern of inheritance. Here, we discuss the case of siblings diagnosed with PVOD to have such genetic predisposition for this disease.http://www.lungindia.com/article.asp?issn=0970-2113;year=2022;volume=39;issue=2;spage=191;epage=194;aulast=Mohiteeif2ak4 gene mutationpulmonary arterial hypertensionpulmonary veno-occlusive disease |
| spellingShingle | Kaustubh Mohite Anil Kumar Sapare Genetic cause of pulmonary veno-occlusive disease Lung India eif2ak4 gene mutation pulmonary arterial hypertension pulmonary veno-occlusive disease |
| title | Genetic cause of pulmonary veno-occlusive disease |
| title_full | Genetic cause of pulmonary veno-occlusive disease |
| title_fullStr | Genetic cause of pulmonary veno-occlusive disease |
| title_full_unstemmed | Genetic cause of pulmonary veno-occlusive disease |
| title_short | Genetic cause of pulmonary veno-occlusive disease |
| title_sort | genetic cause of pulmonary veno occlusive disease |
| topic | eif2ak4 gene mutation pulmonary arterial hypertension pulmonary veno-occlusive disease |
| url | http://www.lungindia.com/article.asp?issn=0970-2113;year=2022;volume=39;issue=2;spage=191;epage=194;aulast=Mohite |
| work_keys_str_mv | AT kaustubhmohite geneticcauseofpulmonaryvenoocclusivedisease AT anilkumarsapare geneticcauseofpulmonaryvenoocclusivedisease |