Gothic aortic arch and cardiac mechanics in young patients after arterial switch operation for d-transposition of the great arteries.

Background: In patients who have undergone arterial switch operation (ASO) for d-transposition of the great arteries a gothic aortic arch (GA) morphology has been found and it has been associated with abnormal aortic bio-elastic properties.

Hypothesis: GA is frequent in ASO patients and may have an impact on cardiac mechanics. Our study aims were to assess 1- the occurrence of GA in a large sample of patients after ASO; 2- the association between GA and aortic bio-elastic properties; and 3- the impact of GA on left ventricular (LV) function using speckle tracking echocardiography (STE).

Tetralogy of Fallot, Down's Syndrome, Left Ventricular Noncompaction, and Multiples Thrombi.

We report a unique case of left ventricular noncompaction (LVNC), tetralogy of Fallot, and multiples biventricular thrombi in a Down's syndrome. Of interest, speckle tracking analysis detected an abnormal LV myocardial longitudinal deformation, despite the normal ejection fraction and absence of NC at the baseline evaluation.

Grave aortic aneurysmal dilatation in DOCK8 deficiency.

Hyperimmunoglobulin E syndrome (HIES) is a primary immunodeficiency disorder with multisystem abnormalities including the vascular system. We report a child with autosomal recessive (AR)-HIES secondary to dedicator of cytokinesis 8 (DOCK8) deficiency who developed critical aortic aneurysm involving the ascending aorta and aortic arch with narrowing of descending aorta that was successfully managed surgically. This report highlights the underrecognized and serious complication of DOCK8 deficiency that could contribute to significant morbidity and mortality in such patients.

Obstruction of a percutaneous pulmonary valve by an Aspergillus mycotic thrombus mimicking massive pulmonary embolus.

New technologies in the management of congenital and acquired heart disease may be associated with unfamiliar complications that may require repeated surgical intervention. A high index of suspicion for unusual problems and close collaboration between cardiologists and surgeons is essential when adopting evolving technologies. We report the case of near total obstruction of a 2.

Estimation of modified concordance ratio in sib-pairs: effect of consanguinity on the risk of congenital heart diseases.

Family studies are widely used for research into genetic and environmental influences on human traits. In this paper, we establish statistical methodology for the estimation of a new measure of sib similarity with respect to dichotomous traits measured on each member of within family sib-pair. We call this parameter "excess risk.