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. Also, to identify factors associated with a severe cardiac rhythmic event (SCRE) (ventricular fibrillation, sustained ventricular tachycardia, heart transplant for rhythmic reasons or SCD). METHODS: Retrospective, multicentre, observational study at 10 medical centres in the Nord-Pas-de-Calais region, France. RESULTS: This study included 72 paediatric patients with HCM during 2009-2019 who were followed for a median (interquartile range [IQR]) of 8.5 (5.0-16.2) years. Eleven patients (15.3%) presented with SCRE. HCM Risk-Kids was high, with a median (IQR) score of 6.2% (2.1-12.8%; significant threshold≥6.0%) and the PRIMaCY median (IQR) score was 7.1% (2.6-15.0%; significant threshold≥8.3%). The positive predictive value was only 27.1% (95% confidence interval [CI] 21.5-32.5%) for HCM Risk-Kids (with a threshold of≥6.0%) and 33.2% (95% CI 27.1-38.9%) for the PRIMaCY score (with a threshold of≥8.3%). The negative predictive values were 95.4% (95% CI 92.3-97.7%) and 93.0% (95% CI 89.8-96.2%), respectively. Three of 28 patients with an implantable cardioverter defibrillator (ICD) experienced complications (including inappropriate shocks). CONCLUSION: HCM Risk-Kids and the PRIMaCY score have low positive predictive values to predict SCD in paediatric patients. If used alone, they could increase the rate of ICD implantation and thus ICD complications. Therefore, the scores should be used in combination with other data (genetic and magnetic resonance imaging results).

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 12.8±3.0 years; 33 females) with MVP and comprehensive clinical arrhythmia (24-hour monitoring) and Doppler echocardiographic characterization, including pulsed-wave tissue Doppler (PWTD) of the lateral mitral annulus, was identified. The relationship between clinical and echocardiographic data and presence of VAs was studied. RESULTS: MAD was common (n=25; 51%). Only five patients had significant VAs (Lown grade>2) characterized by polymorphic premature ventricular contractions or couplets. MAD was not associated with VAs on 24-hour Holter monitoring, but an association was found between VAs and spiked high-velocity midsystolic signal>16cm/s on PWTD (Pickelhaube sign) (P=0.004), myxomatous mitral valve (P=0.004) and left ventricular dilatation (P=0.01). T-wave inversion in inferolateral leads on electrocardiogram was more frequent in patients with versus without the Pickelhaube sign (P=0.03). No difference was found between patients with or without MAD regarding sex, history of palpitation, severity of mitral regurgitation, aortic root diameter and incidence of connective tissue disorders. Myocardial fibrosis was detected in two of three patients who underwent a complementary cardiac magnetic resonance examination. CONCLUSIONS: MAD is common in children with MVP; its presence was not associated with significant VAs on 24-hour Holter monitoring, but the Pickelhaube sign and presence of myxomatous mitral valve may help to detect patients prone to significant VAs. Myocardial fibrosis can be detected by cardiac magnetic resonance in children with significant VAs.

Prevalence and Associated Factors of Long-term Growth Failure in Infants with Congenital Heart Disease Who Underwent Cardiac Surgery Before the Age of One.

Long-term growth failure can have negative impact on health (by increasing morbidity and mortality) and on neurodevelopmental outcomes. Its prevalence among children with congenital heart disease (CHD) is not well described. The aim of our study was to evaluate the prevalence of growth failure in a population of infants with CHD away from cardiac surgery and identify associated factors. We conducted a retrospective and multicentric study that included infants from the North of France who underwent cardiac surgery before the age of one, between January 2013 and December 2017. 331 infants were included among which 48% had a prenatal diagnosis, 15% had a genetic syndrome, and 15% were premature infants. Mean birth weight was 3 ± 0.6 kg. At surgery, 35% presented feeding difficulties (need for enriched formula and/or feeding tube) and 14% had growth failure (defined by Z-score weight for age < -2SD). 6-12 months after surgery, 16% still presented growth failure. Several associated factors were identified: prenatal diagnosis, genetic syndrome association, birth weight ≤ 3 kg, complex CHD (≥ 2 significative lesions, or double outlet right ventricle or single ventricle physiology), surgery after 30 days, and need for diuretic drug before surgery and/or still needed 1 month after surgery. Growth failure persists between 6 and 12 months after surgery in 16% of infants with CHD. More studies are needed to link growth failure and neurodevelopment, which is the new challenge for this aging population.

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. NDD were defined if cut-off scores were ≤ - 1SD. - 1SD corresponded to "Monitor" range: children with minor or emerging disorders; - 2SD corresponded to "Refer" range: children exhibiting neurodevelopmental delays. Forty children were in "Monitor" range and 86 in "Refer" range. NDD rate was 60.0% (n = 126, 95% CI, 53.4 to 66.6%). There was no difference regarding CHD severity (p = 0.99). Only the presence of non-cardiac disease (OR = 2.14; 95% CI, 1.11 to 4.20) was associated with NDD. Forty-six children with NDD had no developmental follow-up (among them 21 were in "Refer" range (10%)) despite this being available.Conclusion: Children with significant CHD are at risk for NDD regardless of CHD severity. Systematic and early monitoring in a specific care program is required. Barriers that prevent access of care must be identified.Trial registration: Neurodevelopmental Disorders in Children With Congenital Heart Disease. NeuroDis-CHD. NCT03360370. https://clinicaltrials.gov/ct2/show/NCT03360370 What is Known: • Children with CHD are at risk for neurodevelopmental disorders and behavioural problems impacting their social adaptation, academic achievements and quality of personal and family life even in adulthood. What is New: • Children with CHD are at risk for neurodevelopmental disorders regardless of the complexity of the CHD. • Even with the availability of appropriate developmental services, children with CHD are not correctly followed, highlighting the need of a specific program of care for a better outcome. Local barriers that prevent access of care of those children must be identified.

Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study.

BACKGROUND: The relationship between pulmonary arterial hypertension-specific drug therapy (PAH-SDT) and mortality in Eisenmenger syndrome (ES) is controversial. AIMS: To investigate outcomes in patients with ES, and their relationship with PAH-SDT. METHODS: Retrospective, observational, nationwide, multicentre cohort study. RESULTS: We included 340 patients with ES: genetic syndrome (n=119; 35.3%); pretricuspid defect (n=75; 22.1%). Overall, 276 (81.2%) patients received PAH-SDT: monotherapy (endothelin receptor antagonist [ERA] or phosphodiesterase 5 inhibitor [PDE5I]) 46.7%; dual therapy (ERA+PDE5I) 40.9%; triple therapy (ERA+PDE5I+prostanoid) 9.1%. Median PAH-SDT duration was 5.5 years [3.0-9.1 years]. Events (death, lung or heart-lung transplantation) occurred in 95 (27.9%) patients at a median age of 40.5 years [29.4-47.6]. The cumulative occurrence of events was 16.7% [95% confidence interval 12.8-21.6%] and 46.4% [95% confidence interval 38.2-55.4%] at age 40 and 60 years, respectively. With age at evaluation or time since PAH diagnosis as time scales, cumulative occurrence of events was lower in patients taking one or two PAH-SDTs (P=0.0001 and P=0.004, respectively), with the largest differences in the post-tricuspid defect subgroup (P<0.001 and P<0.02, respectively) versus patients without PAH-SDT. By multivariable Cox analysis, with time since PAH diagnosis as time scale, New York Heart Association/World Health Organization functional class III/IV, lower peripheral arterial oxygen saturation and pretricuspid defect were associated with a higher risk of events (P=0.002, P=0.01 and P=0.04, respectively), and one or two PAH-SDTs with a lower risk of events (P=0.009). CONCLUSIONS: Outcomes are poor in ES, but seem better with PAH-SDT. ES with pretricuspid defects has worse outcomes despite the delayed disease onset.

[Management of aortic coarctation in adult]. / Prise en charge de la coarctation de l'aorte chez l'adulte.

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. Once operated, patients are not cured. Long-term cardiovascular complications are frequent and have leaded to the concept of systemic arterial disorder. Non-invasive imaging of the aortic arch with MRI or CT scan must be proposed to all adult patients. In the adult, stent placement for discrete coarctation or re-coarctation is the first choice treatment.

Interest of ß-blockers in patients with right ventricular systemic dysfunction.

BACKGROUND: ß-blockers improve the prognosis of patients with cardiac failure due to left ventricular systolic dysfunction. The aim of this study was to assess the efficacy of ß-blockers in patients with dysfunctional systemic right ventricle. METHODS: Fourteen patients with systemic right ventricle following a Mustard or a Senning operation for the transposition of the great arteries, or congenitally corrected transposition were included in the study. All had a decreased systemic right ventricular ejection fraction despite having standard cardiac failure therapy. Quality of life, New York Heart Association class, aerobic capacity, and systemic right ventricular function were assessed before treatment with ß-blockers and at the end of the follow-up period, mean of 12.8 months with a range from 3 to 36 months. RESULTS: Change in New York Heart Association class was significant (p = 0.016). Quality of life improved significantly throughout the study from a median grade 2 with a range from 1 to 3 to a median grade 1 with a range from 1 to 2 (p = 0.008). Systemic right ventricular ejection fraction assessed by radionuclide ventriculography improved significantly from a median of 41% (range: 29-53%) to 49% (range: 29-62%; p = 0.031). However, the change in thee ejection fraction assessed by magnetic resonance imaging was not significant from a median of 29% (range: 12-47%) to 32% (range: 22-63%; p = 0.063). CONCLUSION: In patients with cardiac failure due to systemic right ventricular dysfunction, ß-blockers improve New York Heart Association class, quality of life, and systemic right ventricular ejection fraction assessed by radionuclide ventriculography.

Evaluation of a noninvasive cardiac output monitor in mechanically ventilated children.

OBJECTIVE: To compare measurements of cardiac output (CO) and cardiac index (CI) obtained by a recently developed noninvasive continuous cardiac output system, NICO (CONICO), and transthoracic Doppler echocardiography (COTTE) in mechanically ventilated children. DESIGN AND SETTING: Prospective study in a university-affiliated tertiary pediatric intensive care unit. PATIENTS: A total of 21 mechanically ventilated children, weighing >15 kg, in stable respiratory and hemodynamic condition. MEASUREMENTS: Sets of three successive measurements of CO with the NICO system and transthoracic Doppler echocardiography were obtained. Bland-Altman analysis was used to compare the agreement between the two methods. RESULTS: The mean +/- sd CO values were 4.06 +/- 1.43 L/min for CONICO and 4.67 +/- 1.78 L/min for COTTE. Bias +/- sd between the two methods was -0.61 +/- 0.94 L/min. The variability of the difference between the two methods increased as the magnitude of the CO measurement increased. Similar results were obtained for cardiac index: 4.01 +/- 1.40 L.min.m for CINICO and 4.59 +/- 1.48 L.min.m for CITTE. Bland-Altman analysis revealed a nonuniform relationship between CI difference and the magnitude (y = -0.299 - 0.0655 x mean). The variability of the differences did not increase as the magnitude of the CO measurement increased (sd of estimate was 0.827 L.min.m). With both CONICO and CINICO, each measurement was highly repeatable, with coefficient of variation of only 2.88% +/- 2.31%. Repeatability with Doppler echocardiography was 7.02% +/- 4.33%. CONCLUSIONS: The NICO system is a new device that measures CO easily and automatically in mechanically ventilated children weighing >15 kg. CO values obtained with this technique were in agreement with those obtained with Doppler echocardiography in children in respiratory and hemodynamic stable condition. The NICO system needs further investigation in children in unstable respiratory and hemodynamic condition.