{Reference Type}: Case Reports
{Title}: A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease.
{Author}: Nayak J;Kumar K;Singh SK;Dhingra G;Nath UK;
{Journal}: Oman Med J
{Volume}: 39
{Issue}: 3
{Year}: 2024 May
暂无{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.