Galactomannan detection as a tool for the diagnosis and management of cardiac aspergillosis in 2 immunocompetent patients.

Serum galactomannan antigen detection was used for the diagnosis and follow-up of cardiac aspergillosis after surgery in 2 nonneutropenic patients. The galactomannan index, developed in response to surgical and antifungal therapies, could prove to be a valuable method for the diagnosis and follow-up of fungal infections in such patients.

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

Screening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus-specific FISH probe, with 10% positive cases depending on the selection criteria, but patients testing negative for FISH at 22q11.2 may have other chromosomal aberrations in routine cytogenetic analysis. We tested 819 patients suspected of having a 22q11.2 deletion. Eighty-eight patients (10.7%) were positive for 22q11.2 deletion, whereas 30 patients (3.7%) showed other chromosomal abnormalities involving deletions and duplications, derivative chromosomes, marker chromosomes, apparently balanced and unbalanced translocations and sex chromosome aneuploidies. Of these alterations, 28 did not involve region 22q11 and most had not been associated with 22q11.2 deletion phenotype before. We discuss the similarity of DiGeorge/velocardiofacial syndrome with other known clinical entities and suggest correlations between the new loci and the observed clinical features. The frequency of unrelated chromosomal anomalies reported in this study and in other previous reports highlights the importance of conventional cytogenetic analysis as an initial genome-wide screening tool in all referred patients, and provides useful data to optimize diagnostic and screening protocols according to the most frequent chromosomal findings.

Magnetic resonance imaging findings of persistent primitive hepatic venous plexus with complex congenital cardiac disease.

Persistence of the primitive hepatic venous plexus (PPHVP) is an uncommon anomaly that can present associated with complex congenital heart disease and inferior vena cava (IVC) development anomalies and complicate endovascular and surgical procedures. We report a case of PPHVP in a patient with complex congenital heart disease with unexplained persistent arterial desaturation after Kawashima operation and describe magnetic resonance angiography (Angio-MRI) findings leading to the diagnosis. We recommend that IVC-Angio-MRI be performed in preoperative evaluation of patients with complex congenital heart disease and left isomerism when redirection of systemic venous blood to the pulmonary arterial circulation is considered.

[Pulmonary atresia with intact ventricular septum associated with severe aortic stenosis]. / Atresia pulmonar con septo integro asociada a estenosis aórtica severa.

Pulmonary atresia with intact ventricular septum is the complete obstruction of the right ventricular outflow tract due to pulmonary valve atresia in the absence of ventricular septal defect. Pulmonary flow is dependent on the ductus arteriosus. Other morphological anomalies are also present. Aortic stenosis in association with pulmonary atresia with intact ventricular septum is extremely infrequent, and very few cases have been described. We report a 19-year-old primiparous woman in whom the fetal echocardiogram showed pulmonary atresia with intact ventricular septum. The neonate had low oxygen saturation and a systolic murmur originating in the aorta. An echocardiogram showed pulmonary atresia with intact ventricular septum and a bicuspid, thickened, stenotic aortic valve. Low cardiac output ensued and could not be controlled, and the infant died.

[Interventional catheterization after the Norwood procedure]. / Cateterismo intervencionista tras cirugía tipo Norwood.

INTRODUCTION AND OBJECTIVES: To carry out a retrospective analysis of the indications for, and the results and complications of interventional catheterization after the Norwood procedure. METHODS: Between February 1993 and December 2006, 25 interventional catheterizations were performed in 14 patients who had undergone the Norwood procedure, prior to the Glenn or Fontan procedure. RESULTS: Nine angioplasties were carried out for recoarctation in seven of the 14 patients (2 patients developed restenosis after their first angioplasty). Detachment of the left pulmonary artery occurred either immediately or during follow-up in 3 patients who underwent the classical Norwood procedure. Overall, 10 pulmonary artery angioplasties were required in 7 patients. Three patients needed embolization: one of venous collaterals (using coils), one of the left superior vena cava (using an Amplatzer duct occluder), and one of a left Blalock-Taussig shunt (using an Amplatzer duct occluder). Two patients required a cavopulmonary (Glenn) anastomosis, and another underwent fibrinolysis for thrombosis of the superior vena cava and pulmonary artery. Other findings, which were not treated percutaneously, included: stenosis of the supra-aortic trunk (n=6), femoral artery stenosis (n=2), femoral vein thrombosis (n=5), and subclavian vein thrombosis (n=1). The following complications were recorded: arterial ischemia (n=2), cardiac arrest or bradycardia (n=4), and transient atrioventricular block (n=1). CONCLUSIONS: Following stage I of the Norwood procedure, the angiographic and hemodynamic assessments needed for the diagnosis and treatment of pulmonary artery or aortic arch stenosis must be carried out promptly. Although treating recoarctation by angioplasty can be effective, restenosis frequently occurs. With the Sano procedure, detachment of the left pulmonary artery, but not pulmonary artery stenosis, can be avoided. After stage II, the presence of venovenous collaterals must be ruled out, because they frequently require embolization. In these patients, interventional catheterization is associated with a higher incidence of complications than in other groups.