{"title":"家族性高铁血红蛋白血症伴先天性心脏病的罕见病例","authors":"Jhasaketan Nayak, Karthik Kumar, Sashi Kant Singh, Gaurav Dhingra, Uttam Kumar Nath","doi":"10.5001/omj.2024.16","DOIUrl":null,"url":null,"abstract":"<p><p>Methemoglobinemia is a rare dyshemoglobin disorder which can either be congenital or acquired. Dyshemoglobin disorders can be asymptomatic or symptomatic. We narrate the case of a 12-year-old girl who presented with a fever, cough, and oxygen saturation of 85%. She was diagnosed with COVID-19, along with a large atrial septal defect and pulmonary arterial hypertension. Arterial blood gas analysis revealed normal partial pressure of oxygen and on 100% exposure to oxygen, blood color turned chocolate brown. After the resolution of COVID-19 in 10 days, the patient was treated with oral ascorbic acid and successful atrial septal defect repair. It is important to suspect dyshemoglobin disorder in a patient who presents with hypoxia/hypoxemia.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"1 1","pages":"e634"},"PeriodicalIF":0.0000,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11247307/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease.\",\"authors\":\"Jhasaketan Nayak, Karthik Kumar, Sashi Kant Singh, Gaurav Dhingra, Uttam Kumar Nath\",\"doi\":\"10.5001/omj.2024.16\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Methemoglobinemia is a rare dyshemoglobin disorder which can either be congenital or acquired. Dyshemoglobin disorders can be asymptomatic or symptomatic. We narrate the case of a 12-year-old girl who presented with a fever, cough, and oxygen saturation of 85%. She was diagnosed with COVID-19, along with a large atrial septal defect and pulmonary arterial hypertension. Arterial blood gas analysis revealed normal partial pressure of oxygen and on 100% exposure to oxygen, blood color turned chocolate brown. After the resolution of COVID-19 in 10 days, the patient was treated with oral ascorbic acid and successful atrial septal defect repair. It is important to suspect dyshemoglobin disorder in a patient who presents with hypoxia/hypoxemia.</p>\",\"PeriodicalId\":19667,\"journal\":{\"name\":\"Oman Medical Journal\",\"volume\":\"1 1\",\"pages\":\"e634\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11247307/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oman Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5001/omj.2024.16\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oman Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5001/omj.2024.16","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease.
Methemoglobinemia is a rare dyshemoglobin disorder which can either be congenital or acquired. Dyshemoglobin disorders can be asymptomatic or symptomatic. We narrate the case of a 12-year-old girl who presented with a fever, cough, and oxygen saturation of 85%. She was diagnosed with COVID-19, along with a large atrial septal defect and pulmonary arterial hypertension. Arterial blood gas analysis revealed normal partial pressure of oxygen and on 100% exposure to oxygen, blood color turned chocolate brown. After the resolution of COVID-19 in 10 days, the patient was treated with oral ascorbic acid and successful atrial septal defect repair. It is important to suspect dyshemoglobin disorder in a patient who presents with hypoxia/hypoxemia.
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