Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Cirurgia Cardiovascular
2021-06-01
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| Series: | Brazilian Journal of Cardiovascular Surgery |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700&tlng=en |
| _version_ | 1811246423115563008 |
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| author | Jinrong Li Tao Zhu Sufei Yang Fan Yang Jinhui Wu Fei Xiong |
| author_facet | Jinrong Li Tao Zhu Sufei Yang Fan Yang Jinhui Wu Fei Xiong |
| author_sort | Jinrong Li |
| collection | DOAJ |
| description | Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene. |
| first_indexed | 2024-04-12T14:54:19Z |
| format | Article |
| id | doaj.art-6133dcda1bf9492f9f07c37c5d53937a |
| institution | Directory Open Access Journal |
| issn | 1678-9741 |
| language | English |
| last_indexed | 2024-04-12T14:54:19Z |
| publishDate | 2021-06-01 |
| publisher | Sociedade Brasileira de Cirurgia Cardiovascular |
| record_format | Article |
| series | Brazilian Journal of Cardiovascular Surgery |
| spelling | doaj.art-6133dcda1bf9492f9f07c37c5d53937a2022-12-22T03:28:19ZengSociedade Brasileira de Cirurgia CardiovascularBrazilian Journal of Cardiovascular Surgery1678-97412021-06-0136570070210.21470/1678-9741-2020-0592Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational PresentationJinrong LiTao ZhuSufei YangFan YangJinhui WuFei Xionghttps://orcid.org/0000-0002-9213-7906Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700&tlng=enGrowth mental deficiency syndrome of MyhreMarfan SyndromeHypertensionPulmonaryGrowth DisordersDiagnostic Errors |
| spellingShingle | Jinrong Li Tao Zhu Sufei Yang Fan Yang Jinhui Wu Fei Xiong Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation Brazilian Journal of Cardiovascular Surgery Growth mental deficiency syndrome of Myhre Marfan Syndrome Hypertension Pulmonary Growth Disorders Diagnostic Errors |
| title | Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation |
| title_full | Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation |
| title_fullStr | Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation |
| title_full_unstemmed | Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation |
| title_short | Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation |
| title_sort | myhre syndrome misdiagnosed as marfan syndrome an educational presentation |
| topic | Growth mental deficiency syndrome of Myhre Marfan Syndrome Hypertension Pulmonary Growth Disorders Diagnostic Errors |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-76382021000500700&tlng=en |
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