Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation.

[Pulmonary atresia with intact ventricular septum. Perforation and pulmonary valvuloplasty using a modified mechanical technique. Medium-term follow-up].

Introduction And Objectives: In patients with pulmonary atresia with intact ventricular septum (PAIVS), radiofrequency-assisted perforation of the valve is the most widely used initial therapy when the anatomy is favorable. We report our experience with a modified mechanical technique that gave good results.

Methods: Between November 2001 and October 2006, valve opening was carried out successfully in 11 consecutive neonates with a favorable anatomy (i.

Isolated pseudohypoplasia of the right ventricle.

We present a case of a 12-year-old girl with severe cyanosis due to abnormal moderator band producing a hidden trabecular component of the right ventricle, mimicking isolated hypoplasia of the right ventricle. A marked hypoplasia was confirmed by echocardiography and catheterization. At operation an anomalously thickened moderator band obstructing the apical infundibulum was found.

[Ectopia cordis and cardiac anomalies].

Ectopia cordis is a rare disease that occurs in 5.5 to 7.9 per million live births.