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Pulmonary Interstitial Glycogenosis Associated With Pulmonary Hypertension and Hypertrophic Cardiomyopathy |
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| Authors: | Abdullah Alkhorayyef Lindsay Ryerson Alicia Chan Ernest Phillipos Atilano Lacson Ian Adatia |
| Affiliation: | 1. Department of Pediatrics, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada 2. Department of Medical Genetics, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada 3. Department of Pathology, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada 4. 4C1.19 Walter C Mackenzie Health Sciences Center, 8440 112 St., Edmonton, AB, T6G 2B7, Canada |
| Abstract: | A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors’ knowledge, the association of pulmonary interstitial glycogenosis and hypertrophic cardiomyopathy has not been reported previously. The authors have broadened the phenotype of pulmonary interstitial glycogenosis and demonstrate the diagnostic value of lung biopsy in cases of unexplained neonatal pulmonary hypertension. |
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