A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease

Jhasaketan Nayak, Karthik Kumar, Sashi Kant Singh, Gaurav Dhingra, Uttam Kumar Nath
All India Institute of Medical Sciences.
India

Oman Medical Journal
Oman Med J 2024; 39:
DOI: 10.5001/omj.2024.16

Abstract
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.

Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Genetic Factors Associated with Pulmonary Vascular Disease

Age Focus: Pediatric Pulmonary Vascular Disease

Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication

Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes

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