Implications of right aortic arch prenatal diagnosis: the multicentric nationwide ARCADE cohort.

OBJECTIVES: This study aims to describe the various presentations of the prenatally diagnosed isolated right aortic arch (RAA), that is, without associated congenital heart defect and to evaluate the impact of prenatal diagnosis of isolated RAA in terms of postnatal outcome. METHOD: In this multicentric retrospective study, from 2010 to 2019, all live births with a prenatal ultrasound diagnosis of isolated RAA were included, with a 1-year postnatal follow-up. The concordance between the different diagnostic steps (prenatal ultrasound, postnatal ultrasound and postnatal CT scan) was evaluated using Gwet's AC1 coefficient. RESULTS: A total of 309 cases of prenatally diagnosed RAA were analysed, most of which had a left ductus arteriosus (83%). The concordance between prenatal and postnatal ultrasound diagnosis was excellent regarding the RAA type (AC1=0.97, 95% CI=(0.94 to 0.99)). The rare discrepancies mainly involved non-diagnosed or misdiagnosed double aortic arch (2%). CT scan was performed in 108 neonates (35%) and the concordance between prenatal ultrasound and postnatal CT scan was good regarding the RAA diagnosis (AC1=0.80, 95% CI=(0.69 to 0.90)) but poor regarding the distribution of brachiocephalic vessels (AC1=0.21, 95% CI=(0.06 to 0.36)). An associated genetic anomaly was sought for in half of the cases and identified in 4% of the cohort. During the first year of life, 50 (18%) infants presented with vascular ring symptoms and 24 (8%) underwent aortic arch surgery. CONCLUSION: This multicentric nationwide cohort of 309 prenatally diagnosed isolated RAA demonstrated the reliability of prenatal screening, highlighted the rare cases of discrepancies between prenatal and postnatal diagnosis and underlined the value of CT scan to improve the postnatal follow-up. TRIAL REGISTRATION NUMBER: NCT04029064.

Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO).

The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present. BACKGROUND: The management of paediatric isolated perimembranous ventricular septal defect (pmVSD) with left ventricle (LV) volume overload but no pulmonary arterial hypertension (PAH) remains controversial. Three therapeutic approaches are considered: watchful waiting, surgical closure, and percutaneous closure. We aim to investigate the long-term outcomes of these patients according to anatomic pmVSD characteristics and treatment strategy. METHODS: The Filiale de Cardiologie Pediatrique et Congénitale (FCPC) designed the FRANCISCO registry, a long-term prospective nationwide multi-centre observational cohort study sponsored by the French Society of Cardiology, which enrolled, over 2 years (2018­2020), patients older than 1 year who had isolated pmVSD with LV volume overload. Prevalent complications related to pmVSD at baseline were exclusion criteria. Clinical, echocardiographic, and functional data will be collected at inclusion then after 1, 5, and 10 years. A core lab will analyse all baseline echocardiographic data to depict anatomical pmVSD features. The primary outcome is the 5-year incidence of cardiovascular events (infective endocarditis, sub-aortic stenosis, aortic regurgitation, right ventricular outflow tract stenosis, tricuspid regurgitation, PAH, arrhythmia, stroke, haemolysis, heart failure, or death from a cardiovascular event). We plan to enrol 200 patients, given the 10% estimated 5-year incidence of cardiovascular events with a 95% confidence interval of ±5%. Associations linking anatomical pmVSD features and treatment strategy to the incidence of complications will be assessed. CONCLUSIONS: The FRANSCICO study will provide the long-term incidence of complications in patients older than 1 year with pmVSD and LV volume overload. The results are expected to improve guidance for treatment decisions.

Hybrid access to atria via the Guiraudon Universal Cardiac Introducer for arrhythmia ablation after total cavopulmonary derivation.

We report the first use of a new platform, the Guiraudon Universal Cardiac Introducer (GUCI), in humans for accessing the left atrium for catheter-based ablations in patients with resistant atrial arrhythmias after total cavopulmonary derivation. The GUCI was originally designed for intracardiac access for closed, beating instrumental intracardiac surgery.The patient was a 29-year-old man with problematic atrial arrhythmias resistant to antiarrhythmic drugs because of severe uncontrolled bradycardia and because his pacemaker was explanted for infection.The GUCI was attached to the left atrial appendage via an anterior left thoracotomy. The GUCI was modified to accommodate introduction and manipulation of multiple catheters. This allowed electrophysiologists to perform catheter-based exploration and ablation. A DDD pacemaker was implanted, with an atrial endocardial lead introduced via the GUCI cuff and a ventricular epicardial lead.Postoperative atrial arrhythmias were controlled using amiodarone and atrial pacing. At the 12-month follow-up, the patient was arrhythmia- and drug-free and returned to full employment.This new access offers an additional new alternative atrial access to treat resistant arrhythmia after total cavopulmonary derivation. The current state-of-the-art makes patient selection difficult and uncomfortable for the surgeons because of incomplete preoperative electrophysiological data, such as a return to the beginning of surgery for arrhythmia; however, more cumulative experience with intraoperative electrophysiological data and new mapping technologies should address these limitations.

Long-term results of the REV (réparation à l'ètage ventriculaire) operation.

OBJECTIVE: Despite its innovative features, the réparation à l'ètage ventriculaire (REV) procedure has not gained large popularity in the treatment of transposition of the great arteries, ventricular septal defect, pulmonary stenosis, and related anomalies, and thus the Rastelli operation remains the preferred type of repair. We try to obviate the alleged lack of long-term results that has been suggested to explain this reluctance to change. METHODS: We reviewed a series of 205 patients who underwent the REV procedure between 1980 and 2003. RESULTS: Hospital mortality was 12% (24 patients). Ten of 181 early survivors residing in distant countries could not be traced for follow-up. There were 13 late deaths (2 of noncardiac causes). Overall survival and freedom from any reoperation at 25 years were 85% and 45%, respectively, as determined by using the Kaplan-Meier method. Reoperation was commonly required because of recurrent right ventricular outflow tract obstruction (36 patients) and rarely by left ventricular outflow tract stenosis (3 patients). By using cumulative method analysis, at the 25-year follow-up interval, the probability of being alive without reoperation was 45%, that of reoperation for right ventricular outflow tract obstruction was 33%, and that of reoperation for left ventricular outflow tract obstruction was 5%. Clinical status is excellent: 137 patients are in New York Heart Association class I (87%), and 131 patients are free of arrhythmias. CONCLUSIONS: These results represent a considerable improvement over those of the Rastelli operation in terms of survival and need for reoperation for right or left ventricular outflow tract obstruction.

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

BACKGROUND: TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear. METHODS AND RESULTS: Clinical features and outcomes of 71 patients with a TGFBR2 mutation (TGFBR2 group) were compared with 50 age- and sex-matched unaffected family members (control subjects) and 243 patients harboring FBN1 mutations (FBN1 group). Aortic dilatation was present in a similar proportion of patients in both the TGFBR2 and FBN1 groups (78% versus 79%, respectively) but was highly variable. The incidence and average age for thoracic aortic surgery (31% versus 27% and 35+/-16 versus 39+/-13 years, respectively) and aortic dissection (14% versus 10% and 38+/-12 versus 39+/-9 years) were also similar in the 2 groups. Mitral valve involvement (myxomatous, prolapse, mitral regurgitation) was less frequent in the TGFBR2 than in the FBN1 group (all P<0.05). Aortic dilatation, dissection, or sudden death was the index event leading to genetic diagnosis in 65% of families with TGFBR2 mutations, versus 32% with FBN1 mutations (P=0.002). The rate of death was greater in TGFBR2 families before diagnosis but similar once the disease had been recognized. Most pregnancies were uneventful (without death or aortic dissection) in both TGFBR2 and FBN1 families (38 of 39 versus 213 of 217; P=1). Seven patients (10%) with a TGFBR2 mutation fulfilled international criteria for Marfan syndrome, 3 of whom presented with features specific for Loeys-Dietz syndrome. CONCLUSIONS: Clinical outcomes appear similar between treated patients with TGFBR2 mutations and individuals with FBN1 mutations. Prognosis depends on clinical disease expression and treatment rather than simply the presence of a TGFBR2 gene mutation.

Surgery for malposition of the great arteries: the REV procedure.

The REV procedure was introduced in 1980 to treat transposition of the great arteries with ventricular septal defect (VSD) and pulmonary stenosis and malpositions similar to transposition of the great arteries (TGA). It aims at overcoming the drawbacks and limitations of the classic Rastelli operation, such as subaortic stenosis, late ventricular deterioration, arrhythmias and sudden death. In particular, the resection of the infundibular septum allows for the placement of a straighter, smaller ventricular patch, bulging much less in the right ventricular cavity. The extensive mobilization of the main pulmonary branches permits a direct connection with the right ventricular incision, thus avoiding the need for an extracardiac conduit. The procedure was performed in 205 patients as of December 2003 with 12% hospital mortality. Patients for whom the Rastelli operation would have been contraindicated, were accepted for REV repair. Late results show a clear improvement over those reported with the Rastelli operation in terms of overall survival (85% at 25-year follow-up interval) and prevalence of reoperation for right ventricular obstruction. Obstruction of the left ventricle-to-aorta tunnel is exceedingly rare. This operation should be considered the gold standard when new surgical options are considered for this complex form of transpositions/malpositions of the great arteries.