Cardiac events in Costello syndrome: One case and a review of the literature.

Costello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It is mostly revealed during in the first months of life by growth retardation, facial dysmorphic features, skin and cardiac abnormalities and subsequent cognitive deficit of varying severity. We report a case of Costello syndrome in a 3-month-old infant.

[Interruption of the aortic arch with no patent ductus arteriosus: is survival possible?].

Interruption of the aortic arch is a rare congenital disease. It is defined by the complete interruption between the ascending and descending aorta. A patent ductus arteriosus is necessary to maintain flow from the pulmonary to the descending aorta.

Successful pregnancy and delivery in a woman with a single ventricle and Eisenmenger syndrome.

Background: Patients with a single ventricle represent a rare abnormality found in 1% of patients with congenital heart disease, often discovered during childhood. Without pulmonary stenosis, the disease can progress to fixed pulmonary hypertension. Both pregnancy and delivery are risky events capable of increasing the right-to-left shunt.

[Circular shunt in the severe neonatal form of Ebstein's Anomaly. The prostaglandine infusion is it beneficial or harmful?].

Ebstein's disease with functional pulmonary atresia is a severe neonatal presentation of Ebstein's anomaly where the therapeutic management is typically based on the prescription of prostaglandins. The circular shunt is a serious "hemodynamic" complication which is often undiagnosed leading to the discontinuation of prostaglandins. We report a severe neonatal form of Ebstein's anomaly with hemodynamic deterioration relatted to a circular shunt.

Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy.

Background: Mitochondria play critical roles in both the life and death of cardiac myocytes. Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathies (CMPs). Our aim was to investigate the underlying mitochondrial defect in a patient with hypertrophic cardiomyopathy (hCMP).