Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype

Abstract

At her first day of life, a neonate presented with severe cyanosis and a mass obstructing the right ventricle outflow tract. Prostagladin E1 was necessary to provide pulmonary blood flow. The mass was removed using extracorporeal bypass surgery; the right ventricle was dilated, and the pulmonary valve leaflets were damaged. Sternal closure was delayed because of bleeding and poor cardiac performance. Histology demonstrated that the mass was a mixed thrombus. Investigation revealed homozygous 677TT genotype of the methylenetetrahydrofolate reductase. In conclusion, a life-threatening thrombotic event such as an intracardiac thrombus obstructing the right ventricle outflow tract can occur in a neonatal age. Since the event can be a result of a combination of acquired and congenital thrombogenic risk factors, an extensive screening including DNA-based mutation analysis should be performed.

Evaluation and treatment of intracardiac thrombus in ten neonates

“…Dear Sir, We read with great interest the recent case report by Kovacikova et al [3] who demonstrated a thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase (MTHFR) 677TT genotype. The authors stated that a thrombus in a neonate could be a result of a combination of acquired and congenital thrombogenic risk factors, and a mutation analysis should be performed.…”

Reply to the correspondence letter by G. Demirel et al.

“…We appreciate the interest of Dr. Demirel and associates in our article describing a thrombus obstructing the right ventricle outflow tract in a neonate with 677TT methylenetetrahydrofolate reductase genotype [6]. In this case, surgical thrombectomy was used as a method of choice for the treatment of a life-threatening thrombosis.…”