Aberrant right subclavian artery: the association with chromosomal defects and the related post-natal outcomes in a third level referral centre.

Aberrant right subclavian artery (ARSA) is the most common embryologic abnormality of the aortic arch. The presence of ARSA has been previously associated with an increased risk of Down syndrome. ARSA at birth may be associated with dysphagia, respiratory distress and stridor and there is no clear evidence-based management. The aim of this study was to describe the associations with chromosomal abnormalities and the postnatal outcome of fetuses diagnosed with ARSA. We analysed fetuses diagnosed antenatally with ARSA between January 2013 and September 2019 in the fetal echocardiography unit of the Hospital Monaldi, University 'Vanvitelli' of Naples, Italy. The results showed fifty fetuses diagnosed with ARSA, all confirmed after birth. The ARSA was an isolated finding in 46 fetuses (92%), while in 4 fetuses the ARSA was associated with other cardiac and/or extra-cardiac anomalies. Only one fetus was diagnosed with trisomy 21 (2%). In this fetus the ARSA was the only ultrasound anomaly identified. There were no cases necessitating referral due to the presence of compression symptoms at birth. The presence of ARSA was associated with trisomy 21 in the 2% of cases in our series and there were no neonatal complications due to airway compression at birth.IMPACT STATEMENTWhat is already known on this subject? Aberrant right subclavian artery (ARSA) is the most common embryologic abnormality of the aortich arch. ARSA at birth could be associated with dysphagia, respiratory distress and stridor and no evidence-based management of these fetuses has been described yet. The presence of ARSA has been previously associated with an increased risk of Down syndrome.What do the results of this study add? This study confirms known data on association with chromosomal defects and provides some original data on the absence of symptomatology due to tracheal compression with a postnatal follow-up up to three years of age.What are the implications of these findings for clinical practice and/or further research? Our findings suggest that in cases with adequate prenatal assessment performed by experienced clinicians, delivery can safely take place at local hospitals, with no need of referral soon after birth. The use of transthoracic echocardiography to confirm the diagnoses of ARSA after birth and to plan the next follow-up appointments can be supported.

Trans-catheter closure of a rare cause of pre-tricuspid left-to-right shunt: A "double" levoatriocardinal vein without left heart obstructive lesions.

The levoatriocardinal vein is a rare vascular anomalous connection between the left atrium and the superior vena cava (or left innominate vein). This defect is usually associated with left heart obstructive lesions, while it is rarely found in an isolated form. In the former case, the anomalous connection causes a pre-tricuspid left-to-right shunt with right-heart volume overload. We describe the first case of "double" homolateral levoatriocardinal vein in a child with signs and symptoms of right-heart failure and pulmonary blood-flow overload. A trans-catheter closure of both vascular connections was performed with two Amplatzer Vascular Plug type II (Abbott, Plymouth, MN, USA). The percutaneous approach proved to be safe and effective, with early improvement in the signs and symptoms of heart failure. .

Two-dimensional strain and atrial function: a study on patients after percutaneous closure of atrial septal defect.

AIMS: To assess the value of two-dimensional (2D) strain in assessing regional myocardial function along the atrial wall. METHODS AND RESULTS: We studied 20 patients late after successful percutaneous atrial septal defect (ASD) closure. The analysis was performed for atrial longitudinal peak systolic strain on the interatrial septum, in correspondence of the device, and on the lateral wall of the left atrium. The speckle tracking indexes demonstrated almost the absence of any deformation on the Amplatzer ASD occluder, a bulky non-contractile element, passively moved by global heart motion. This study in a simple clinical model demonstrates that 2D strain is not influenced by global heart motion and tethering from adjacent segments and can also be used to study the regional atrial function. Moreover, both acquisition and post-processing times of 2D strain were very short, and the reproducibility was very good. CONCLUSION: All these above-mentioned characteristics make the 2D strain a tool fully compatible with the clinical scanning, able to provide additional clinical information.

Two-dimensional strain to assess regional left and right ventricular longitudinal function in 100 normal foetuses.

AIMS: Previous reports have demonstrated that myocardial velocities are not sufficiently sensitive in foetal heart studies. Strain (S) imaging is a new non-invasive ultrasonic technique able to quantify regional myocardial deformation properties. Strain imaging has a superior sensitivity than myocardial velocity for non-invasive assessment of ventricular function. However, Doppler-derived strain imaging has been used to quantify myocardial deformation properties in the foetal heart with rather limited results, because of angle dependency, sensitivity to extracardiac movement, the need for good-quality images, long and time-consuming post-processing and the low reproducibility of Doppler-derived strain. Recently, a novel method for motion estimation based on two-dimensional (2D) tissue tracking strain (2D-S) echocardiography using time-domain processing has been developed, providing rapid assessment of regional myocardial strain that is independent of both cardiac translation and angle dependency, with a very good reproducibility. However, no information on 2D-S in human foetuses has so far been provided. METHODS: We studied 100 consecutive normal foetuses (gestation range: 20-32 weeks; no evidence of structural cardiovascular disease by 2D echo and Doppler study) using 2D-S imaging. Left ventricle (LV) and right ventricle (RV) peak myocardial negative strain values were obtained. RESULTS: Strain data were obtained from all the studied subjects, the duration of post processing was 3 +/- 2 min for each patient dataset. Peak longitudinal deformation parameters were homogeneous in all the three studied walls (strain: septum = -25 +/- 5%; lateral wall = -25 +/- 4%; RV free wall = -24 +/- 4%; P = NS). There were significant correlations between gestational age and peak longitudinal strain (P < 0.001; R: -0.73). Inter and intra-observer variability for strain was good, <3 and <6%, respectively. CONCLUSION: This study demonstrated that 2D-S is a feasible and reproducible approach to assess regional ventricular function in the foetal heart, ready for the clinical application.

Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.

OBJECTIVE: Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pathway. METHODS: Here, we describe a family (mother and daughter) with clinical and molecular diagnosis of Leopard syndrome 1 and HCM, and we report the prenatal diagnosis of HCM in a fetus at risk for Leopard syndrome. RESULTS: An echocardiography was conducted showing a significant hypertrophy of both ventricles (left and right ventricular wall thickness 9mm and 3 mm). After a multidisciplinary counseling the couple opted for the termination of pregnancy CONCLUSION: Further genotype-phenotype studies are warranted to fully elucidate the impact of the genotype on the natural history of patients with LS and LVH.

Congenital heart disease in a population of dizygotic twins: an echocardiographic study.

BACKGROUND: Congenital heart disease (CHD) is the most common malformation in the fetal and neonatal period but little is known about its cause. The distribution analysis of CHD in dizygotic twins could provide a useful tool to evaluate the role of genetic and environmental factors in the development of CHD. Dizygotic twins are siblings with different genes, growing together in the same womb. AIM OF STUDY: To investigate the occurrence of CHD in a large sample of dizygotic twins of nonconsanguineous healthy parents, comparing the data from non-twin patients. METHODS: From January 1999 to December 2002, we enrolled 1743 CHD patients with, at least 1 sibling, and 66 pairs of dizygotic twins, referred to our tertiary center. The diagnosis of CHD was based on clinical and echocardiographic evaluation. RESULTS: Considering only the sibling nearest in age for each non-twin patient the recurrence was 67/1743 (3.8%). Among these 67 patients, 35 (52.2%) had a sibling with the same or similar CHD. Conversely, considering all 1886 siblings, recurrence of CHD in the non-twin group was 70/1743 (4%). Of the 70 patients, 36 (36/70, 51.4%) had a sibling with the same suspected pathogenic mechanism of CHD. In 9/66 pairs of twins (13.6%), both siblings had a CHD. In the nine pairs of twins in whom both siblings had a CHD, the percentage of concordance (based on the suspected pathogenic mechanism) for CHD was 100% (p<0.05). CONCLUSIONS: Our findings suggest that the higher recurrence and concordance of CHD found in dizygotic twins could depend on some poorly identified environmental risk during the pregnancy.