Ruptured sinus of Valsalva found incidentally in a patient with tetralogy of Fallot.

Ruptured sinus Valsalva aneurysm (SVA) in a patient with tetralogy of Fallot is a very rare cardiac complication. This report describes the case of a 10-year-old Hispanic girl who presented to her cardiologist for a routine transthoracic echocardiography (TTE), which showed a ruptured sinus of Valsalva, with left-to-right shunting noted from the right cusp to the right ventricular outflow tract and pulmonic insufficiency. The patient underwent right and left heart catheterization with transesophageal echocardiography guidance and closure of the ruptured sinus of Valsalva with an Amplatzer muscular ventricular septal defect (VSD) device.

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Objective: Children with Congenital Central Hypoventilation Syndrome (CCHS) have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/dysfunction (ANSD) phenotype. We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval (QTc).

Materials And Methods: We studied 501 days of Holter recordings from 39 individuals with PHOX2B mutation-confirmed CCHS, and analyzed longest r-r and QTc intervals with respect to PHOX2B genotype.