François Heitz

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 ×), NKX2-5 (6 ×), ZIC3 (3 ×), MLPA (2 ×) and ELN (4 ×). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.

French national survey on infective endocarditis and the Melody™ valve in percutaneous pulmonary valve implantation

BACKGROUND Percutaneous pulmonary valve implantation (PPVI) is a routine treatment for dysfunctional right ventricular outflow tract. Infective endocarditis (IE) is a major concern. AIM To report French experience with the Melody™ valve (Medtronic Inc., Minneapolis, MN, USA). METHODS All patients who underwent PPVI were recorded in a multicentre French national survey. Demographic and procedural data were collected from patients with IE. Bacterial identification, diagnostic tools and outcome were recorded. RESULTS Forty-five cases of IE were diagnosed in 43 patients. The cumulative IE incidence was 11.8% (95% confidence interval [CI] 8.5-15.9). The annualized IE incidence was 3.6% (95% CI 0-4.8). Freedom from IE was 96.3% and 85.8% at 12 months and 60 months, respectively. IE incidence did not change during the study period. The mean interval between PPVI and IE was 2.6±2.1 years (range, 5 days to 7.3 years). Fifteen patients with IE required intravenous antibiotics only. Seven patients had early interventional cardiac catheterization to relieve severe right ventricular outflow tract obstruction. Twenty-four patients had surgical valve replacement (six urgently; nine semi-urgently; nine electively). Staphylococcus aureus IE required surgery in all but one patient. Three patients died before any treatment. Three additional patients died, giving a mortality rate of 14%. Global survival in the total cohort of patients who received a Melody valve was excellent (96.5% at 5 years). When comparing survival curves between the IE and non-IE groups, death and cardiovascular events were statistically significantly higher in the IE group (log-rank P<0.0001). CONCLUSION Melody valve IE is a severe complication following PPVI. The annualized IE incidence in this cohort was similar to rates reported in other studies. With rapid diagnosis and adequate treatment, outcome has improved, and unfavourable outcome is mainly associated with S. aureus.

Feasibility, Safety and Accuracy of Echocardiography-Fluoroscopy Imaging Fusion During Percutaneous Atrial Septal Defect Closure in Children

Background: Imaging fusion between echocardiography and fluoroscopy was recently developed. The aim of this study was to assess its feasibility and accuracy during pediatric cardiac catheterization. Methods: Thirty‐one patients (median weight, 26 kg; interquartile range [IQR], 21–37 kg) who underwent percutaneous atrial septal defect closure were prospectively included. The feasibility and accuracy of various imaging fusion modalities (live two‐dimensional, live color two‐dimensional, live three‐dimensional and markers) with EchoNavigator software were assessed. To assess the accuracy of spatial registration of the echocardiogram on the fluoroscopic image, the occluder screw, an object that appeared on each image, was used as a reference tool, and the distance between the two when fused was measured. A distance was measured on the fusion screen between a marker positioned on the screw from the echocardiography screen and from the fluoroscopy screen (distance 1). Another distance was measured on the fusion screen between the screw visualized by three‐dimensional echocardiography and by fluoroscopy (distance 2). The two distances were measured on four C‐arm orientations in end‐systolic and end‐diastolic frames. Results: Fusion and marker positioning were feasible in real time in all cases. On the fusion screen, median systolic and diastolic distance 1 were 0.5 mm (IQR, 0.3–1 mm) and 2 mm (IQR, 1.5–2.5 mm; P < .0001), respectively. The marker positioned from the echocardiography screen was fixed on the fusion screen and did not follow the movement of the screw. Median systolic and diastolic distance 2 were 0.5 mm (IQR, 0–0.5 mm) and 2 mm (IQR, 1.5–2.5 mm; P < .0001), respectively. Conclusions: Echocardiographic fluoroscopic imaging fusion is feasible, safe, and accurate in children weighting >20 kg. This technique offers a new method of imaging guidance in the catheterization laboratory for complex procedures and training. HIGHLIGHTSEchocardiography‐fluoroscopy imaging fusion is feasible, safe and accurate in children.Echocardiography‐fluoroscopy imaging fusion is displayed in real time.Echocardiography‐fluoroscopy imaging fusion may be beneficial for training.

Ablation of supraventricular arrhythmias in adult congenital heart disease: A contemporary review

Supraventricular arrhythmias are an important and increasing cause of morbidity in adults with congenital heart disease, requiring specific management strategies. Pharmacological treatment has limited efficacy, and is often associated with some side-effects. Major improvements in catheter ablation techniques have opened new opportunities to better understand underlying mechanisms of supraventricular arrhythmias, offer better therapy, and eventually improve symptoms and quality of life in these patients. An array of tools and techniques are necessary to access relevant anatomical areas to address the arrhythmogenic substrate. The mechanism of these arrhythmias is mostly related to macroreentry around surgical scars or cavotricuspid isthmus-dependent flutter. The efficacy of catheter ablation is mainly dependent on the underlying congenital heart condition, with the most complex cases typically being associated with atrial switch and Fontan surgeries. Although relatively high rates of recurrence are seen after a single procedure, additional attempts are often helpful to decrease recurrences and improve symptoms. Catheter ablation in such patients continues to present many unique challenges that are best addressed by experienced multidisciplinary teams, at centres equipped with the proper catheters, imaging capabilities, mapping systems and support staff needed to maximize safety and success. Consensus indications have emerged that often support ablation as first-line therapy in these patients. In this comprehensive review, we aim to describe the specific issues associated with ablation of supraventricular arrhythmias in adult congenital heart disease, assess the results in contemporary practice and, finally, review the current indications.

CO 7 Outcomes after protein-losing enteropathy in univentricular hearts: A multicenter study

Suzanne Borrhomée*, Sébastien Hascoët, Alban-Elouen Baruteau, Jérôme Petit, Lucile Houyel, Marielle Gouton, Régine Roussin, Marianne Peyre, Mohammed Ly, Emre Belli, Emmanuel Lebret, Serge Demontoux, Virginie Lambert, Daniela Laux 1 Centre chirurgical Marie-Lannelongue, Pôle des cardiopathies congénitales, Centre de référence M3C des cardiopathies congénitales complexes, Le Plessis-Robinson, France.

0353 : Cerebral tissue oxygen saturation monitoring during balloon atrial septostomy in neonates with transposition of the great arteries. Preliminary data

Balloon atrial septostomy (BAS) increases peripheral oxygen saturation in neonates with transposition of the great vessels (TGV). Effect of BAS on cerebral oxygenation remains little known. We aimed to describe the modification of regional cerebral tissue oxygen saturation (rcSaO 2 ) during the catheterization. Methods we prospectively included 6 neonates with TGV and restrictive inter-atrial shunt who required BAS. BAS was performed in catheterization laboratory by an interventional pediatric cardiologist. rcSaO 2 was measured using near-infrared spectroscopy (NIRS) during the whole procedure. Results Median rcSa0 2 at the beginning of the procedure was 52.5% ranging from 21% to 78%. Median rcSaSaO 2 after the BAS was 69.5% ranging from 64% to 94%. The rcSa0 2 increased significantly immediately after the BAS (p=0.0273 by Wilcoxon signed rank test). Median rcSa0 2 delta between before and after BAS was 19% ranging from 11 to 43%. The rcSaO 2 delta was higher although not significantly when rcSa02 before the BAS was less than 50% (31% vs 16%, p=0.14). Linear regression analysis revealed that the delta of rcSaO 2 was significantly inversely related to the rcSa0 2 at the beginning of the procedure (Delta= –0.45 x rcSaO 2 av + 45.8, p=0.37, R 2 =0.70). Conclusion BAS improves cerebral oxygen saturation during the catheterization in neonates with TGV and restrictive inter-atrial shunt. The increase is proportional to the degree of alteration before the procedure.