Most of these babies will require surgery during infancy to correct their structural heart defect. Severe methemoglobinemia
The first-line treatment for severe methemoglobinemia is methylene blue, a medication that will reduce methemoglobin in the blood. This is possible because methylene blue oxidizes NADPH, which in turn can convert methemoglobin back to hemoglobin. Epidemiology
Out of all the babies born with congenital heart defects, about 25% have cyanosis as a result. Tetralogy of Fallot is the most common cyanotic cardiac heart defect.Methemoglobinemia is considered to be rare, with acquired methemoglobinemia encountered more than the congenital form. Outcomes
In the case of cyanotic causing heart defects, about 75% of infants survive to 1 year of age and 69% survive to 18 years of age. These individuals have an increased risk of developmental delay, heart failure, or heart rhythm disorders.Methemoglobinemia responds well to treatment, its prognosis is associated with the level of methemoglobinemia and the degree of end organ damage it can cause. Death can occur when levels reach 70%. History
The first successful operation to treat blue baby syndrome caused by Tetralogy of Fallot occurred at Johns Hopkins University in 1944. Through a collaboration between pediatric cardiologist Helen Taussig, surgeon Alfred Blalock, and surgical technician Vivien Thomas, the Blalock-Thomas-Taussig shunt was created. Dr. Taussig had recognized that children with Tetralogy of Fallot who also had a patent ductus arteriosus (PDA) typically lived longer, so the trio tried to create the same effect as a PDA by joining the subclavian artery to the pulmonary artery, relieving the childs cyanosis.
Research
CFTR mutations that are responsive to elexacaftor/tezacaftor/ivacaftor were determined by an in-vitro study of Fischer Rat Thyroid (FRT) cells that expressed mutant CFTR. Elexacaftor/tezacaftor/ivacaftor showed effectiveness with mutations where the CFTR protein was being successfully delivered to the cell surface. References
External links
"Elexacaftor". Drug Information Portal. U.S. National Library of Medicine. "Ivacaftor regimen with Tezacaftor". Drug Information Portal. U.S. National Library of Medicine.