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INTRODUCTION The incidence of moderate and severe forms of congenital heart disease (CHD) is about 6/1000 live births. (1) Most of the children have normal birth weight, but they develop [...], BACKGROUND/OBJECTIVES: The objective of this disease was to determine the prevalence of malnutrition in children with congenital heart disease (CHD). SUBJECTS/METHODS: A total of 125 children with CHD, under 6 months of age, were divided into four groups: no pulmonary hypertension (PH) or cyanosis (group 1, n = 47), isolated cyanosis (group 2, n = 52), isolated PH (group 3, n = 16), and PH and cyanosis (group 4, n = 10). Six children died at 6 months (n = 4), 12 months (n = 1) and 19 months (n = 1). The remaining children were followed-up for 24 months. Prevalence of moderate to severe malnutrition (weight/weight for height < 80%), caloric intake and medications were compared between the four groups. RESULTS: Moderate or severe malnutrition was more frequent in group 4 (100%) compared with others groups (group 1, 20%; group 2,16.7% and group 3, 50%; P < 0.05). Low oral caloric intake was more frequent in group 3 (71.4%) and group 4 (75%) than in group 1 (28%) and 2 (28.6%) (P < 0.05). Food enrichment was practised in half of the children of group 4 and rarely in other groups (group 1, 15.8%; group 2, 8.6% and group 3, 11.1%; P < 0.05). Enteral feeding was used more often in groups 3 (33.3%) and 4 (50%) than in groups 1 (15.8%) or 2 (14.3%; P < 0.05). CONCLUSIONS: Moderate or severe malnutrition is present in 15% of children with CHD, and it is more frequent in case of PH. Half of these children demonstrate low caloric intake, whereas few have proper nutritional support. European Journal of Clinical Nutrition (2016) 70, 528-531; doi: 10.1038/ejcn.2015.209; published online 23 December 2015

Transcatheter edge-to-edge repair (TEER) provides an alternative option for high-risk patients with systemic tricuspid regurgitation (STR). Preliminary data of the French study has shown its feasibility and safety, but mid-term echocardiographic outcome is lacking. Echocardiographic outcome of TEER in systemic tricuspid valve regurgitation. Method TEER French cohort is a multicentre, longitudinal, descriptive, prospective study of patients undergoing TEER for severe STR. Fourteen patients with severe or greater STR undergoing percutaneous repair with the MitraClip system were enroled in the study between May 2019 and June 2023. A transthoracic echocardiography was performed at baseline, six months, one year and two years after the procedure. TR was assessed using standard 2-dimensional color Doppler methods and graded TR using the 5-class grading scheme: mild, moderate, severe, massive, and torrential. The number of clips and their localization were analyzed. A reduction of at least 1 grade in TR was achieved in al subjects. TR grade remained moderate or less in 85% of patients at 1-year follow-up, and 83% of patients at 2-years follow-up. TR reduction was sustained at 2-years follow-up for all the 6 patients evaluated. Five patients had one-clip implantation: in the antero-septal coaptation line for 4 patients and in the antero-posterior coaptation line for 1 patient. Nine patients had two or more clips implantation: antero-septal/postero-septal in 2 patients, antero-septal/antero-posterior in 2 patient, 2 antero-septal in 4 patients, 2 antero-septal/antero-posterior in 1 patient. TR grade seemed to be lower in the group of patient with 2-clips strategy at 2-years follow-up: TR was graduated mild in 67% of patients in 2 or more clips group and moderate in 100% of patients in 1-clip group. Systemic tricuspid TEER is found to be safe and effective, with sustained effects at 2 years in patients. Patients with two or more clips implantation seem to have a better outcome in the regurgitation grade, but additional data and a bigger cohort are needed to predict the outcome and define the optimal technical strategy. [ABSTRACT FROM AUTHOR]

Stents have contributed to the development of the interventional catheterization for congenital heart diseases (CHD). The aim of this study was to describe indications, results and adverse events in current practice. Methods The participation to this study was proposed to all catheterization laboratories specialized in CHD in France (M3C network). All cases with stents implantation in 2013 in pediatric and adult CHD were retrospectively included. Adverse events were assessed using the Bergersen classification. Results 174 stents were implanted during 132 procedures in 127 patients by 6 main operators in 9 centers. Patients were aged 15.7±15.1years old (min 5day-old - max 70years old). Sixteen types of procedures were identified. Main indications were transcatheter pulmonary valve replacement (29 patients, 23.0%), pulmonary artery branches angioplasty (34 patients, 27.0%), aortic (re)coarctation stenting (37 patients, 29.4%) and ductus arteriosus stenting (11 patients, 8.7%). 18 patients (14.3%) were under one y.o and 35 (27.8%) were over 18y.o. Main pathologies were tetralogy of Fallot and variants (ACC-CHD 8.3, n=45, 35.7%), and aortic coarctation (ACC-CHD 9.2, n=36, 28.6%). More than 1 stent was implanted in 32 procedures (24.4%, max. 5 stents). Main stents implanted were the CP stent (33.0%), EV3 LD max (22.0%), Valeo (16.2%) and valved stents (15.0%). 98.5% procedures were considered as successful. Serious adverse events were observed in 12.9%. After multivariate adjustment, only procedure type was related to the risk of total adverse events (OR: 3.0, 95%CI 1.1-7.9) but not to stent related adverse events. Age, weight, center, operator, type of stents, stent diameter, genetic disorder and type of CHD were not significantly related to the risk of adverse events. Conclusion Stents are used in various CHD catheterization procedures, from infancy to adult age. Adverse events rate is significant and seems related to the type of procedure. [ABSTRACT FROM AUTHOR]

We describe a family with suspicion of genetic arrhythmia that has benefited from a wide genetic exploration. The eldest of the siblings presented syncope at age 5.5 years and cardiac explorations were normal. A few months later, her elder sister presented a sudden death at age 4.5 years, while she was playing in the garden. The cardiac explorations showed a heart of normal structure but presence of polymorphic premature ventricular complexes. Isoprenaline test was positive. Treatment with beta-blockers (nadolol 50mg/m2) was introduced. There was no family history of sudden death or other cardiac defects. Because of these two serious rhythmic events occurring in two young children, a genetic study was initiated by next generation sequencing of 42 genes involved in cardiac arrhythmias (long QT, Brugada, cathecholaminergic ventricular tachycardia). Two heterozygous mutations (c.613C>T/p.Gln205* and c.22+29 A>G) were identified in the Triadin gene, coding for a protein of the calcium release complex, recently involved in cathecholaminergic ventricular tachycardia in two families (Roux-Buisson et al., 2012). The parents of our two cases were each carriers of a heterozygous mutation and had no cardiac symptoms. Their cardiac assessment did not show any abnormality (ECG Holter, exercise test, Isoprenaline test). The nonsense p.Gln205* mutation was present in one of the published families; however the splicing mutation in intron 1 had never been identified. Minigene experiments helped to confirm its pathogenicity. Presymptomatic testing was then proposed to the third child of the family (age 3), finding the two pathogenic mutations. She was therefore put under the same treatment as her sisters. This is the second report of an autosomal recessive cathecholaminergic ventricular tachycardia due to the Triadin gene. This case illustrates the interest of Next Generation Sequencing exploring simultaneously several candidate genes, in cases of sudden death of unknown origin. [ABSTRACT FROM AUTHOR]

Introduction Conventional echographic parameters are neither accurate nor reproducible to assess left ventricular function after cardiac surgery with cardiopulmonary bypass. The main objective of this study was to evaluate the feasibility and reproducibility of 2D strain during the peri-operative period. The second objective was to assess the post-operative evolution of 2D strain, particularly after an atrial septal defect closure. Methods 33 pediatric patients (<18years) with congenital heart disease undergoing cardiac surgery with cardiopulmonary bypass were included in this prospective single center study. Daily echocardiography was performed from the day before surgery to the sixth post-operative day. Left ventricular ejection fraction (Teichholz and Simpson) and 2D strain (longitudinal, circumferential and radial) were measured. Results Mean age and weight were 4years [2-6] and 15kg [10-20]. Mean durations of cardiopulmonary bypass and aortic cross-clamp were 117min [86-148] and 58min [44-72]. The global post-operative feasibility of longitudinal, circumferential and radial strain was respectively 91%, 95% and 95%, similar to the feasibility of conventional parameters (97%). The intra- and inter-observer correlation coefficients were good for longitudinal strain (0.916, P<0.001 and 0.885, P<0.001), circumferential strain (0.880, P<0.001 and 0.829, P<0.001) and radial strain (0.701, P=0.002 and 0.559, P=0.020). Early post-operative circumferential strain was correlated to the durations of aortic cross-clamp (r=0.603, P=0.001), inotropic support (r=0.558, P=0.004) and mechanical ventilation (r=0.580, P=0.002). Circumferential strain significantly improved after an atrial septal defect closure (−19.86 [−22.73; −17.00] versus −14.95 [−17.79; −12.11], P=0.028). Conclusion 2D strain is feasible and reproducible in the post-operative period. Further studies are needed to assess its interest in early diagnosis of post-operative myocardial dysfunction. [ABSTRACT FROM AUTHOR]

Objectives This article sought to describe a new modification of the Melody® valve that allows percutaneous pulmonary valve implantation (PPVI) in complex outflow tracts. Background PPVI has been validated as a valuable therapeutic option for the management of patients with dysfunctional right ventricular outflow tracts (RVOT). However, complex and unfavorable RVOT anatomy continue to limit the indications for PPVI. Methods Between April 2012 and November 2013, PPVI was performed in 10 patients (mean age=16,3±5years old) using a new modification of the Melody® valve consisting in a manual shortening of the Melody by folding the 2 extremities of the stent. We reviewed the results of this technique. Results Indications were short RVOT in 3 patients, prevention of retrosternal compression in 2 patients, bioprosthetic valves in 4 and coronary arteries proximity in one. No complication occurred during procedures. All patients had excellent hemodynamic results (mean post PPVI RV-PA gradient was 14±6mmHg, 3 patients had trivial pulmonary regurgitation (PR) and the remaining had no PR). After a mean follow-up of 8months (range 2-18months), no patient had reintervention. No valve dysfunction or stent fractures were observed (Fig. 1A and B). Conclusion The 'Folded valve technique' is a safe modification of the Melody® valve. By shortening the valve, this technique allowed PPVI in short and complex RVOTs with vulnerable neighbourhood. [ABSTRACT FROM AUTHOR]

We report on the cases of two first-degree non-consanguineous cousins with infantile-onset Pompe disease, a rare autosomal recessive disease. The first patient developed cardiorespiratory failure at age 1 year. When she was 4 her male cousin developed hypotonia during his first month of life. Both infants had cardiac hypertrophy at diagnosis and shared the c.1927G>A missense mutation. Since a first degree cousin of an affected patient has 50 times the risk of developing the disease compared with unrelated infants and since cardiac hypertrophy is constant in affected infants, the combination of cardiac symptoms with a history of Pompe disease in a first degree cousin leads to a very high probability of having the condition. Clinically oriented screening based on simple diagnostic procedures such as echocardiogram and anamnesis could accelerate the initiation of enzyme replacement therapy of the deficient acid α-glucosidase which is critical to restoring cardiac function in affected infants.

Unlabelled: In patients with congenital heart block (CHB), dual-chamber pacing restores physiological heart rate and atrio-ventricular synchronization. However, patients with narrow QRS junctional escape rhythm may be deleteriously affected by long-term, permanent, apical ventricular pacing. We assessed the impact of apical ventricular pacing on echocardiographic ventricular dyssynchrony and hemodynamic parameters., Methods: Fourteen CHB adults (23 +/- years, 58% male), with a DDD transvenous pacemaker and a junctional escape rhythm (QRS<120 ms) before implantation, were studied. Echocardiography coupled with tissue Doppler imaging (TDI) and Strain rate was performed in spontaneous rhythm (VVI mode 30/mn) and during atrio-synchronized ventricular pacing., Results: The heart rate (43 +/- 09 vs 68 +/- 07: p<0.01), cardiac output (2.9 +/- 0.7 vs 3.7 +/- 0.6 L/min) and left ventricular filling time (325 +/- 38 vs 412 +/- 51 ms; p<0.01) were significantly less in the escape spontaneous rhythm compared with atrio-ventricular synchronized apical pacing. However, interventricular dyssynchrony (28 +/- 12 vs 59 +/- 25 ms, p<0.05), intra-left ventricular dyssynchrony (36 +/- 11 vs 57 +/- 29 ms; p<0.05), extent of left ventricular myocardium displaying delayed longitudinal contraction (26 +/- 10 vs 39 +/- 17%: p<0.05) were significantly less in the escape rhythm compared with paced rhythm., Conclusion: Once implanted with a DDD pacemaker, CHB patients present with increased cardiac output secondary to the restoration of physiological heart rate and improved diastolic function. However, the apical site is not optimal, as it creates detrimental ventricular dyssynchrony in patients with previous nearly physiological ventricular activation. Alternative pacing sites should be investigated.

In patients successfully operated for coarctation of the aorta, the prevalence of hypertension is higher than that observed in the general population although the exact mechanism is not known. The hypothesis of increased arterial rigidity despite satisfactory correction of the coarctation has been proposed. The authors undertook 24 hour ambulatory blood pressure monitoring coupled with measurement of the QKD interval (pulse wave velocity) in order to evaluate the rigidity of the large arteries. These results were compared with those obtained in control patients paired with respect to gender, age, height and weight. Twenty-six patients with an average age of 14.5 +/- 2.9 years were included (age at time of surgery 6.3 +/- 3.7 years). The statistical data confirmed a higher systolic blood pressure (p<0.05) in the operated patients compared with controls. The results confirm the hypothesis of increased residual arterial rigidity in children operated for coarctation of the aorta which could predispose to secondary hypertension, especially on effort. In the long term, this could be an unquestionable cardiovascular risk factor explaining the increased cardiovascular morbid-mortality compared with the general population.

Congenital isolated atrio-ventricular block (CAVB) is a rare pathology, and its management is still rather poorly described through international literature. Within the service of pediatric cardiology leaded by Pr Choussat and Dr Jimenez (Cardiologic Hospital Haut-Lévêque of Bordeaux), we collected from 1980 to 2003, 30 isolated congenital CAVB, constituting the purpose of this retrospective study. Average follow-up is 14 +/- 8.8 years. None death occurred. CAVB are discovered at an average age of 4.8 years old; 6 cases were diagnosed in utero, half of them were associated with maternal lupus. Twenty patients on 30 were fitted with stimulator at an average age of 8.7 +/- 6.9 years old, due to symptoms or bradycardy. Epicardic fitting in VVI mode represents 65% of first approaches, it is followed by endocavitary way for 81% of cases. Cardiac stimulation does not prevent from dilated cardiomyopathy. Among 30 patients 10 were not fitted with stimulator, half of them presents chronotrop insufficiency during effort. As a conclusion, our patients show a good long-term vital prognosis; although CAVB discovered in utero lead to worse prognosis for children.

Chylothorax is a rare but generally severe complication of surgery of congenital heart disease. The authors report the clinical history of a young boy with complex congenital heart disease operated on several occasions and who developed severe and recurrent unilateral chylothorac after a bicavo-bipulmonary derivation. Conservative treatment followed by continuous somatostatin infusion was ineffective. Diagnostic Lipiodol lymphography was required before the chylothorax was cured. The authors describe management of this difficult case and discuss the therapeutic possibilities with reference to a brief review of the literature.

Nearly 150 years after the description of Ebstein's anomaly the prognostic factors are not well known. Besides the foetal and neonatal forms which carry a poor prognosis the adult forms are often well tolerated and pose the difficult problem of management. This was a retrospective study of 73 patients with this malformation followed up between 1967 and 2002 at the University Hospital of Bordeaux. There were 14 deaths (19%) half of which (7) occurred during the first 3 months of life. The factors predictive of mortality (p<0.05) were: age, associated malformations, Classes III-IV of the New York Heart Association, cardiac failure, malaises, cyanosis, a raised cardiothoracic index, and a high mitro-tricuspid displacement indexed to body surface area. Supraventricular arrhythmia and the Wolff-Parkinson-White syndome do not seem to be associated with extramortality. Surgery, with reference to published studies, seems to improve survival, functional status and decrease the prevalence of arrhythmias. It would appear to be justified to propose surgery when functional status declines or when signs of poor prognosis are observed.

Congenital ectopic junctional tachycardia (EJT) is a rare arrhythmia presenting in the first 6 months of life. It is often resistant to antiarrhythmic drugs and its poor prognosis (35% mortality) explains its often complex management. The authors report two cases which illustrate its unpredictability with a potential to degenerate to serious ventricular arrhythmias. The possibility of progression to atrioventricular block, increased by antiarrhythmic therapy, may lead to implantation of a cardiac pacemaker. The poor outcome of the two babies underlines the severity of these arrhythmias.

Fifty years after the beginning of cardiac surgery, a large percentage of operated congenital heart disease patients attain adulthood. The tetralogy of Fallot is one of the malformations in which the natural outcome was unfortunately nearly fatal in the long-term. Open heart surgery has radically transformed the prognosis of this, the most common of all cyanotic congenital cardiac malformations. Nowadays, most operated patients lead normal professional and family lives. Lonf-term survival after correction is between 90-95% after 30-35 years. Although surgical repair is satisfactory, the operated heart is not anatomically normal. The patients have a variable degree of devalvulation of the pulmonary outflow tract, a scar on the right ventricle, a patch repairing the ventricular septal defect and scars on the atrium (cannulation for cardiopulmonary bypass). These sequellae expose the patients to a number of complications, notably arrhythmic and sometimes haemodynamic, affecting the right ventricle. The late mortality rate varies from 5 to 13% in the literature. The main causes of death are sudden death and reoperation. Sudden death is the most severe long-term complication but it is uncommon, affecting less than 5% of the population. It is mainly due to ventricular arrhythmias. Certain predisposing factors should be identified during long-term follow-up, among them the presence of haemodynamic abnormalities: systolic overload (residual pulmonary stenosis) or diastolic overload of the right ventricle (pulmonary regurgitation), infundibular aneurysm, right ventricular dysfunction. It would appear to be important to prevent pulmonary regurgitation by preserving the pulmonary valve even if it means persistence of a mild transvalvular pressure gradient. When pulmonary regurgitation is inevitable, follow-up is essential to evaluate the timing of valvulation of the pulmonary orifice. Despite these different complications which must be understood for proper follow-up of these patients, the long-term outcome of operated tetralogy of Fallot remains very good.

Since Ebstein's first description in 1866 and the first surgical attempts at treatment in the 1950's, the natural history of this condition remains obscure. The anatomical description contrasts with the clinical and prognostic variability of this malformation. The form observed in the foetal or prenatal periods has a very different prognosis to that observed in adults. The risk factors are not the same even though the anatomical entity is comparable. The difficulty in managing these patients is due to the problems of diagnosis and determination of these prognostic factors. Advances in echocardiography, the key investigation which facilitates diagnosis, and in surgical and ablation techniques, have improved our understanding of this condition and its prognosis.

We report the observation of a female 45 year old patient presenting with a post-surgery complex congenital cardiopathy, associated with serious ventricular rhythm disorders necessitating the placement of an implantable defibrillator. The palliative surgery performed (cavo-pulmonary Glenn anastomosis) does not allow the usual access to the right ventricle via the superior vena cava. The different possibilities for defibrillator implantation are discussed. These include associating a surgical approach to introduce the bipolar probe with subcutaneous tunnelling to connect the probe to the box.