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). METHODS: We studied one hundred and five asymptomatic patients, who have undergone first stage ASO for d-TGA, with normal left ventricular ejection fraction (LVEF ≥53%). RESULTS: Forty-six (44%) patients showed a GA (mean age 11.5±7.2years, 26 males) while fifty-nine (56%) patients (mean age 9.6±6.7years, 37 males) did not present GA. The two groups were comparable for age, sex, BSA, and office blood pressure values. In group GA aortic root was significantly dilated (27.4±7.5mm vs. 21.2±6.9mm, p<0.0001), aortic stiffness index (Group GA=1.8±1.2 vs. 1.4±0.7, p=0.025) was significantly increased, left atrial volume was larger (p=0.0145), global longitudinal strain (Group GA=-18.4±2.5% vs. -20.1±3.3%, p=0.012) and basal LV longitudinal strains (Group GA=-16.9±4.8% vs. -20.4±7.0%, p=0.013) were significantly reduced. CONCLUSIONS: After ASO the presence of a GA is associated with a significantly dilated aortic root, stiffer aortic wall, larger left atrial volume, and worse LV longitudinal systolic deformations, well known predictors of cardiovascular morbidity and mortality.

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.

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 2.5-month-old implanted Melody percutaneous pulmonary valve (PPV) with a thrombus mimicking saddle embolus causing right heart failure and hemodynamic collapse. This obstruction necessitated emergency surgery and homograft replacement. Cultures and pathologic examination revealed fungal thrombus with Aspergillus fumigatus. Subsequently, the patient had rapid improvement, received antifungal treatment, and has shown excellent cardiac and systemic recovery up to 1 year after surgery.

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." For inference problems involving a single sample, we construct a large sample confidence interval on the concerned parameter. It has long been suspected that consanguinity is a risk factor for many genetic defects. Therefore, we establish a procedure to test the significance of the difference between excess risk parameters in a sample of consanguineous marriages and another sample of non-consanguineous marriages. We apply the methodology to data from a hospital-based congenital heart defects registry in Saudi Arabia, a population in which consanguinity is quite common.