Evaluation of new predictive scores for sudden cardiac death in childhood hypertrophic cardiomyopathy in a French cohort.

Background: Hypertrophic cardiomyopathy (HCM) is rare in children, and sudden cardiac death (SCD) is difficult to predict. Two prognostic scores - HCM Risk-Kids and Precision Medicine for Cardiomyopathy (PRIMaCY) - were developed to assess the risk of SCD in the next 5 years in children with HCM.

Aims: To test the ability of these scores to predict SCD in children with HCM.

Mitral annular disjunction and Pickelhaube sign in children with mitral valve prolapse: A prospective cohort study.

Background: Mitral annular disjunction (MAD) and the Pickelhaube sign are identified as risk factors for malignant ventricular arrhythmias (VAs) and sudden cardiac death in adults with mitral valve prolapse (MVP); their prevalence and consequences in children have never been studied.

Objectives: To determine the proportion of MAD in children with MVP, and its potential link with VAs.

Methods: A cohort of 49 consecutive children (mean age 12.

Health-Related Quality of Life and Its Association With Outcomes in Adults With Congenital Heart Disease and Heart Failure: Insight From FRESH-ACHD Registry.

Background Quality of Life (QoL) is a prognostic factor in heart failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of QoL on outcomes in adults with congenital heart disease (ACHD) and HF. Methods and Results Quality of life of 196 adults with congenital heart disease with clinical heart failure (HF) (mean age: 44.

Hybrid closure of ventricular septal defect and implantation of systemic right ventricular assist device.

A 50-year-old female patient was readmitted with refractory systemic right ventricular failure. The patient underwent a Mustard procedure during childhood for transposition of the great arteries. A significant residual ventricular septal defect was present, which represents a major risk factor of death following ventricular assist device.

Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns.

Methods: An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, entailing investigation of 1043 unrelated ccTGA probands.

Pulmonary Valve Replacement and Redo Pulmonary Valve Replacement via Ministernotomy.

Minimally invasive cardiac surgery is mainly dedicated to acquired left-sided valve diseases. Ministernotomy is widely used for aortic valve repair or replacement, whereas pulmonary valve repair via this approach has been reported only recently. This article aims to describe the use of ministernotomy for pulmonary valve replacement in adult congenital patients.

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

Unlabelled: 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.

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered by exercise or acute emotion in patients with normal resting electrocardiogram. The major disease-causing gene is , encoding the cardiac ryanodine receptor (RyR2). We report a novel variant, p.

Antenatal diagnosis of double chambered left ventricle: Post-natal evolution to LV dysfunction.

Double chambered left ventricle is an exceedingly rare congenital anomaly. We report a case diagnosed prenatally at 24 weeks of gestation and its postnatal evolution to left ventricular dysfunction.

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.

Aims: To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD).

Methods And Results: We analysed the data from the French multicentre DMD Heart Registry (ClinicalTrials.gov: NCT03443115).

Screening for neurodevelopmental disorders in children with congenital heart disease.

The aim of this study was to evaluate the frequency of neurodevelopmental disorders (NDD) in children with significant congenital heart disease (CHD) and to determine associated factors to NDD and frequency of follow-up in developmental therapies. Two hundred and ten children with significant CHD aged from 6 to 66 months were enrolled over a period of six months. The Ages & Stages Questionnaire Third Edition in French (ASQ-3) was used to assess neurodevelopmental domains.

Fetal ventricular tachycardia: betablockers should be the first line treatment.

Ventricular tachycardia (VT) is a rare cause of tachycardia during the fetal life. Coexistence of VT with sinus bradycardia or second-degree heart block strongly suggests long QT syndrome (LQTS) [1-3] and needs to administrate to the mother beta-blockers and in some cases magnesium sulfate [1,2,4]. When there is no argument for a LQTS several drugs have been proposed, most of them contraindicated in LQTS.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening.

Efficacy of ivabradine to control ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal hereditary disease characterized by complex ventricular arrhythmias provoked by exercise or emotional stress and by a high mortality rate in young individuals. Nadolol alone or in combination with flecainide is the most effective therapy. However, compliance to treatment is often low due to side effects.

Antenatal diagnosis of double-outlet left atrium.

In this study, we describe a fetus with double-outlet atrium associated with complex arrangement of the ventricles and the great vessels. Various presentations of this malformation not described antenatally are discussed.

Maternal and fetal outcomes of pregnancy with Fontan circulation: A multicentric observational study.

Background: Despite serious long-term sequel, women with Fontan palliation have reached childbearing age. However there is paucity of data on the pregnancy outcomes and management of this condition. We aimed to determine the maternal and fetal outcomes of pregnancy in women with Fontan palliation.

ELN gene triplication responsible for familial supravalvular aortic aneurysm.

Supravalvular aortic aneurysms are less frequent than abdominal ones. Among Supravalvular aortic aneurysm aetiologies, we focused on dystrophic lesions as they can be secondary to genetic causes such as elastin anomaly. We report on a familial 7q11.

Transposition of the great arteries: factors influencing prenatal diagnosis.

Objective: The objective of this study is to highlight the factors that may affect prenatal diagnosis of transposition of the great arteries (TGA) in order to improve it.

Methods: This is a retrospective study performed between 2004 and 2009 in the maternity units from North of France. We identified a total of 68 cases of TGA (isolated or associated with only VSD or coarctation of aorta), of which 32 (47.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder.

[Management of aortic coarctation in adult].

Coarctation of the aorta accounts for 7% of congenital heart diseases. It is estimated that currently approximatively 10,000 adult patients have been operated on for coarctation in France. Bicuspid aortic valve occurs in more than 50% of patients.