Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report
Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK) pathway. Noonan syndrome, cardiofaciocutaneous syndrome and Costello...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2014-01-01
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| Series: | Heart India |
| Subjects: | |
| Online Access: | http://www.heartindia.net/article.asp?issn=2321-449x;year=2014;volume=2;issue=1;spage=22;epage=25;aulast=Kadiyala |
| _version_ | 1811306015669354496 |
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| author | Meenakshi Kadiyala Viswanathan Thangavelu Kannan Radhakrishnan |
| author_facet | Meenakshi Kadiyala Viswanathan Thangavelu Kannan Radhakrishnan |
| author_sort | Meenakshi Kadiyala |
| collection | DOAJ |
| description | Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK) pathway. Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome are part of this group of developmental syndromes and have similar cardiac abnormalities. A 19-year-old male presented with complaints of exertional breathlessness class I for 6 months. Clinical examination revealed characteristic facial features, skeletal abnormalities, growth and neurocognitive problems reported in patients with Noonan syndrome. There was evidence of severe pulmonary hypertension. Trans-thoracic echocardiography revealed right atrial and right ventricular enlargement, severe pulmonary hypertension, no intra cardiac shunt, prolapse of anterior mitral leaflet with mild mitral regurgitation. CT pulmonary angiogram revealed bilateral branch pulmonary artery stenosis. A final diagnosis of Noonan syndrome was made. |
| first_indexed | 2024-04-13T08:36:46Z |
| format | Article |
| id | doaj.art-7c5495ae35414006bc4ba0c9db173699 |
| institution | Directory Open Access Journal |
| issn | 2321-449X |
| language | English |
| last_indexed | 2024-04-13T08:36:46Z |
| publishDate | 2014-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Heart India |
| spelling | doaj.art-7c5495ae35414006bc4ba0c9db1736992022-12-22T02:54:03ZengWolters Kluwer Medknow PublicationsHeart India2321-449X2014-01-0121222510.4103/2321-449x.127977Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case reportMeenakshi KadiyalaViswanathan ThangaveluKannan RadhakrishnanRasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK) pathway. Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome are part of this group of developmental syndromes and have similar cardiac abnormalities. A 19-year-old male presented with complaints of exertional breathlessness class I for 6 months. Clinical examination revealed characteristic facial features, skeletal abnormalities, growth and neurocognitive problems reported in patients with Noonan syndrome. There was evidence of severe pulmonary hypertension. Trans-thoracic echocardiography revealed right atrial and right ventricular enlargement, severe pulmonary hypertension, no intra cardiac shunt, prolapse of anterior mitral leaflet with mild mitral regurgitation. CT pulmonary angiogram revealed bilateral branch pulmonary artery stenosis. A final diagnosis of Noonan syndrome was made.http://www.heartindia.net/article.asp?issn=2321-449x;year=2014;volume=2;issue=1;spage=22;epage=25;aulast=KadiyalaBranch pulmonary artery stenosismitral valve prolapsenoonan syndrome |
| spellingShingle | Meenakshi Kadiyala Viswanathan Thangavelu Kannan Radhakrishnan Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report Heart India Branch pulmonary artery stenosis mitral valve prolapse noonan syndrome |
| title | Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report |
| title_full | Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report |
| title_fullStr | Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report |
| title_full_unstemmed | Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report |
| title_short | Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report |
| title_sort | bilateral branch pulmonary artery stenosis and mitral valve prolapse in a patient with noonan syndrome a case report |
| topic | Branch pulmonary artery stenosis mitral valve prolapse noonan syndrome |
| url | http://www.heartindia.net/article.asp?issn=2321-449x;year=2014;volume=2;issue=1;spage=22;epage=25;aulast=Kadiyala |
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