Out of the blue: inflammatory myofibroblastic tumour identified during repair of tetralogy of Fallot with absent pulmonary valve.

Inflammatory myofibroblastic tumour of the heart is an exceedingly rare benign neoplasm. While benign, without prompt management its impact can be devastating. Tetralogy of Fallot with absent pulmonary valve is a rare form of CHD. We present the first documented case of inflammatory myofibroblastic tumour of the heart in the presence of tetralogy of Fallot with absent pulmonary valve.

A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia.

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.).