A rare combination of post-ductal coarctation of the aorta and adjunct tortuous aneurysm: a neonate with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome

A 4-day-old girl with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome comprising a facial haemangioma, aortic coarctation at the aortic arch, torturous aortic aneurysm distal to coarctation, and ductus arteriosus originating proximal to the coarctation is presented. The aortic arch was successfully reconstructed without cardiopulmonary bypass, and she is currently doing well after 4 years and 8 months.

Left Ventricular Morphology in Patients with Aortic Coarctation and Bicuspid Aortic Valve: Novel Insights from a Statistical Shape Modelling Framework

Background The functional implications of left ventricular (LV) morphological characterization in congenital heart disease (CHD) are not widely explored. This study qualitatively and quantitatively assessed LV shape associations with a) LV function and b) thoracic aortic morphology in patients with aortic coarctation (CoA) with/without bicuspid aortic valve (BAV). Methods A statistical shape modelling (SSM) framework was employed to analyse three-dimensional (3D) LV shapes from cardiac magnetic resonance (CMR) data in isolated CoA (n=25), CoA+BAV (n=30), isolated BAV (n=30), and age-matched healthy controls (n=25). Average 3D templates and deformations were computed. Correlations between shape data and CMR-derived morphometric parameters (i.e. sphericity, conicity) or global and apical strain values were assessed to elucidate possible functional implications. The relationship between LV shape features and arch architecture was also explored. Results The LV template was shorter and more spherical in CoA patient and LV sphericity was associated (p≤0.04) with lower global longitudinal, radial and circumferential strain, irrespective of the presence of aortic stenosis and/or regurgitation. Conversely, LV strain was not associated with arch architecture. Conclusions Differences in LV morphology were observed between CoA and BAV patients. Increasing LV sphericity was associated with reduced strain, independent of aortic arch architecture and functional aortic valve disease.

45,X/46,XY Mosaicism with Male Phenotype: Case Report

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

Prenatal Diagnosis of Aortic Coarctation: Prediction Algorithm according to Gestational Age

<b><i>Objectives:</i></b> The aim of the study was first to quantify the diagnostic accuracy of predictive anatomical factors of aortic coarctation (CoA) and second to design a postnatal CoA probability algorithm according to gestational age (GA) in prenatal period. <b><i>Methods:</i></b> Global and according to GA diagnostic performance of cardiac anatomical variables using the ROC curve were evaluated in a retrospective cohort of fetuses with suspicion of CoA (2004–2020). A serial testing strategy to predict postnatal CoA by fetal echocardiography was designed. <b><i>Results:</i></b> 114 fetuses were included. Isthmus-to-ductal (I/D) ratio provided the best discrimination between healthy fetuses and those with CoA (AUC 0.91, 95% CI: 0.86–0.96, I/D &#x3c; 0.74 sensitivity 96.3%, I/D &#x3c; 0.6, specificity 92.5%) with good classification capacity in both the second and third trimesters of gestation. Isthmus <i>z</i>-score and pulmonary/aortic valve ratio increased accuracy in fetuses &#x3e;28 and tricuspid/mitral valve ratio (TV/MV) in fetuses ≤28 weeks. Study of I/D plus TV/MV ratio in fetuses ≤28 and I/D ratio plus isthmus <i>z</i>-scores in fetuses &#x3e;28 weeks allowed to correctly classify 91.8% of fetuses as high or low probability of postnatal CoA. <b><i>Conclusions:</i></b> Diagnostic discrimination of anatomic predictive factors for CoA varies according to GA. Specific algorithms according to GA increase accuracy in CoA’s prenatal prediction.