Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

CHARGE syndrome is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, cardiovascular malformations and ear abnormalities. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome. Mutation analysis was performed in 18 patients with firm or tentative clinical diagnosis of CHARGE syndrome.

Excision of the coronary orifices in arterial switch operation: "O" like obstructive and "U" like unobstructive?

Background: Stenoses of the neo-pulmonary artery (NPA) may complicate follow-up of the arterial switch operation (ASO). It is unknown whether the type of patch covering the coronary excision defects ("O"- or "U"-shaped) might influence this complication.

Methods: Echocardiographically and invasively measured NPA pressure-gradients were evaluated retrospectively in 95 children after ASO.

A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.

Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and several other syndromes, collectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defects have also been attributed to deletions in this chromosomal region.

Instantaneous pressure-flow velocity relations of systemic venous return in patients with univentricular circulation.

Objective: To assess the pressure and flow velocity relations and respiratory variability of the systemic venous and hepatic venous return in patients with univentricular circulation.

Patients: 15 selected patients who had undergone cavopulmonary anastomosis (10) or atriopulmonary anastomosis (5). Mean age at operation was 55.

Pulsed Doppler echocardiographic assessment of patterns of venous flow after the modified Fontan operation: potential clinical implications.

To assess the effect of a modified Fontan operation on systemic venous blood flow and the hepatic circulation, we compared 11 patients having an atriopulmonary connection and 35 with total cavopulmonary anastomosis. The Doppler echocardiographic study of the caval venous, hepatic venous and portal venous flow was performed so as to calculate the pulsatility ratio and the variation of flow with respiration. All patients had undergone cardiac catheterization.