Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko
{"title":"糖原蓄积病引起的全身栓塞和双心室肥厚:临床、影像学和病理困境","authors":"Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko","doi":"10.7326/aimcc.2023.0463","DOIUrl":null,"url":null,"abstract":"Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications. This case report discusses a patient who presented with cardioembolic renal infarction and was ultimately diagnosed with glycogen storage disease XV (which is extremely rare). The diagnosis was made by pursuing multimodality imaging, endomyocardial biopsy, and genetic testing.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"24 6","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament\",\"authors\":\"Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko\",\"doi\":\"10.7326/aimcc.2023.0463\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications. This case report discusses a patient who presented with cardioembolic renal infarction and was ultimately diagnosed with glycogen storage disease XV (which is extremely rare). The diagnosis was made by pursuing multimodality imaging, endomyocardial biopsy, and genetic testing.\",\"PeriodicalId\":72222,\"journal\":{\"name\":\"Annals of internal medicine. Clinical cases\",\"volume\":\"24 6\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of internal medicine. Clinical cases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7326/aimcc.2023.0463\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of internal medicine. Clinical cases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7326/aimcc.2023.0463","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament
Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications. This case report discusses a patient who presented with cardioembolic renal infarction and was ultimately diagnosed with glycogen storage disease XV (which is extremely rare). The diagnosis was made by pursuing multimodality imaging, endomyocardial biopsy, and genetic testing.
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