Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled ni...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SciELO
2017-05-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409817707773 |
| _version_ | 1818524387391832064 |
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| author | Rachel D. Torok MD Stephanie L. Austin MS Lisa K. Britt RDCS Jose E. Abdenur MD Priya S. Kishnani MD Stephanie B. Wechsler MD |
| author_facet | Rachel D. Torok MD Stephanie L. Austin MS Lisa K. Britt RDCS Jose E. Abdenur MD Priya S. Kishnani MD Stephanie B. Wechsler MD |
| author_sort | Rachel D. Torok MD |
| collection | DOAJ |
| description | Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease. |
| first_indexed | 2024-12-11T05:56:27Z |
| format | Article |
| id | doaj.art-8287655a6170433fb601987799afaa60 |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-12-11T05:56:27Z |
| publishDate | 2017-05-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-8287655a6170433fb601987799afaa602022-12-22T01:18:40ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942017-05-01510.1177/232640981770777310.1177_2326409817707773Pulmonary Arterial Hypertension in Glycogen Storage Disease Type IRachel D. Torok MD0Stephanie L. Austin MS1Lisa K. Britt RDCS2Jose E. Abdenur MD3Priya S. Kishnani MD4Stephanie B. Wechsler MD5 Divisions of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA Divisions of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA Divisions of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA, USA Divisions of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA Divisions of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USAPulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.https://doi.org/10.1177/2326409817707773 |
| spellingShingle | Rachel D. Torok MD Stephanie L. Austin MS Lisa K. Britt RDCS Jose E. Abdenur MD Priya S. Kishnani MD Stephanie B. Wechsler MD Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I Journal of Inborn Errors of Metabolism and Screening |
| title | Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I |
| title_full | Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I |
| title_fullStr | Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I |
| title_full_unstemmed | Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I |
| title_short | Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I |
| title_sort | pulmonary arterial hypertension in glycogen storage disease type i |
| url | https://doi.org/10.1177/2326409817707773 |
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