A rare case of familial methemoglobinemia with congenital heart disease.
Source
Oman Medical Journal, v. 39, no. 3, e634 p. [1-3].
Author
Nayak, Jhasaketan.
Publisher
Oman Medical Specialty Board.
Original title
A rare case of familial methemoglobinemia with congenital heart disease.
English 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.