Development of neoaortic pseudoaneurysm after arterial switch operation.

We report a case of a 46-day-old boy who was diagnosed with transposition of the great arteries and underwent arterial switch operation. A large neoaortic pseudoaneurysm was diagnosed on the first postoperative follow up. Successful repair of the aneurysm was done and at the 3-year follow up, the child's clinical and imaging findings remain normal.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

BACKGROUND: Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardiac morphogenesis as exemplified by TBX1 deficiency caused by point mutations or, more commonly, hemizygosity as part of the 22q11.2 deletion syndrome. The latter genetic lesion, however, is only observed in a proportion of patients with TA, which suggests the presence of additional disease genes. OBJECTIVE: To identify novel genes that cause Mendelian forms of TA. METHODS AND RESULTS: We exploited the occurrence of monogenic forms of TA in the Saudi population, which is characterised by high consanguinity, a feature conducive to the occurrence of Mendelian phenocopies of complex phenotypes as we and others have shown. Indeed, we demonstrate in two multiplex consanguineous families that we are able to map TA to regions of autozygosity in which whole-exome sequencing revealed homozygous truncating mutations in PRKD1 (encoding a kinase derepressor of MAF2) and NRP1 (encoding a coreceptor of vascular endothelial growth factor (VEGFA)). Previous work has demonstrated that Prkd1(-/-) is embryonic lethal and that its tissue-specific deletion results in abnormal heart remodelling, whereas Nrp1(-/-) develops TA. Surprisingly, molecular karyotyping to exclude 22q11.2 deletion syndrome in the replication cohort of 17 simplex TA cases revealed a de novo hemizygous deletion that encompasses PRDM1, deficiency of which also results in TA phenotype in mouse. CONCLUSIONS: Our results expand the repertoire of molecular lesions in chromatin remodelling and transcription factors that are implicated in the pathogenesis of congenital heart disease in humans and attest to the power of monogenic forms of congenital heart diseases as a complementary approach to dissect the genetics of these complex phenotypes.

Two-dimensional echocardiographic predictors of coarctation of the aorta.

BACKGROUND: Coarctation of the aorta is a very common congenital heart malformation. It is frequently associated with other abnormalities. Echocardiography is the diagnostic modality for congenital heart disease. The carotid-subclavian artery index and the isthmus/descending aorta index were proposed for establishing the diagnosis of coarctation of the aorta. OBJECTIVES: The objectives were to evaluate such indexes and to look for other echocardiographic predictors of coarctation of the aorta. METHOD: Echocardiography was reviewed for infants with coarctation of the aorta, as well as a control group, using the Echo PAC Dimension. Standard measurements were obtained from different sites of the aortic arch. RESULTS: A total of 31 infants 3 months or less with coarctation of the aorta and 50 infants with no coarctation of the aorta were reviewed. Abnormal aortic valve was present in 65% of those with coarctation of the aorta. The diameters of the proximal and the distal transverse aortic arch were smaller in the coarctation of the aorta group. The distance between the aortic arch branches was longer in the coarctation of the aorta group. Apart from the ratio between distance 2 and the ascending aorta, other ratios/indexes were smaller in the coarctation of the aorta group than in the control group. CONCLUSION: The presence of abnormal aortic valve, a carotid subclavian index <1.1, I/AAo ratio <0.53, and DTA/AAo ratio <0.6 suggest the presence of coarctation of the aorta. Neonates with large patent ductus arteriosus and any of these findings need close observation until the patent ductus arteriosus closes. If the arch is difficult to assess by two-dimensional echocardiography, the patient may need further imaging to rule out coarctation of the aorta.

Persistent fifth aortic arch diagnosed by echocardiography and confirmed by angiography: Case report and literature review.

Persistent fifth aortic arch is a rare congenital anomaly that can be discovered incidentally or at postmortem exam. It can be associated with major congenital heart malformations involving the systemic or the pulmonary circuits. It usually has no clinical significance but can be either, beneficial as in systemic outflow tract obstructions or cause hemodynamic compromise when associated with a significant left to right shunt. We report an infant with persistent fifth aortic arch associated with Shone's complex diagnosed accurately by transthoracic echocardiography and confirmed by cardiac catheterization and computed tomography.