Immediate results of primary balloon dilation for congenital aortic valve stenosis predict the mid-term outcome.

BACKGROUND: Balloon valvuloplasty is the primary treatment for congenital aortic valve stenosis in our centre. We sought to determine independent predictors of reintervention (surgical repair or repeated balloon dilation) after primary valvuloplasty. METHODS: We retrospectively studied patients with congenital aortic valve stenosis who underwent balloon valvuloplasty during 2004-2018. The following risk factors were analysed: aortic valve insufficiency after balloon valvuloplasty >+1/4, post-procedural gradient across the aortic valve ≥35 mmHg, pre-interventional gradient across the valve, annulus size, use of rapid pacing, and balloon/annulus ratio. Primary outcome was aortic valve reintervention. RESULTS: In total, 99 patients (median age 4 years, range 1 day to 26 years) underwent balloon valvuloplasty for congenital aortic valve stenosis. After a mean follow-up of 4.0 years, 30% had reintervention. Adjusted risks for reintervention were significantly increased in patients with post-procedural aortic insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg (HR 2.55, 95% CI 1.13-5.75, p = 0.024). Pre-interventional gradient, annulus size, rapid pacing, and balloon/annulus ratio were not associated with outcome. CONCLUSION: Post-procedural aortic valve insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg in patients undergoing balloon valvuloplasty for congenital aortic valve stenosis confers an increased risk for reintervention in mid-term follow-up.

Protein-losing enteropathy managed with percutaneous enlargement of a restrictive atrial septal defect.

Protein-losing enteropathy is one of the most feared complications of the Fontan circulation. The diagnosis of protein-losing enteropathy in this setting should prompt a thorough investigation for the presence of a treatable hemodynamic impairment. In this report, we describe a complete reversal of protein-losing enteropathy following percutaneous enlargement of a restrictive atrial septal defect in a patient with a fenestrated lateral tunnel Fontan and severe mitral stenosis.

Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3.

We aimed to estimate the prevalence of glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy (SMA) types 2 and 3. A cross-sectional study was conducted. Medical history, anthropometric measurements, pubertal status, blood chemistry (glucose and insulin levels, lipid profile, aminotransferases, and hemoglobin A1c [HbA1c]), and liver ultrasound were obtained in all patients. Oral glucose tolerance test was performed in those with body mass index (BMI) >25th percentile or glucose or HbA1c levels in the prediabetic range. A total of 37 patients with SMA (22 type 2, 15 type 3) with a median age of 8.5 years (range 2-18.9 years) were included. Eleven patients (29.7%) met the criteria for prediabetes, but none had overt type 2 diabetes. Dyslipidemia was detected in 11 patients (29.7%), and 4 (10.8%) had hepatic steatosis on ultrasound. Sixteen patients (43.2%) had at least one abnormal finding (prediabetes, dyslipidemia, or hepatic steatosis); all but one were non-ambulatory and 12 (75%) had BMI ≥85th percentile. One young child developed fasting hypoglycemia. Our results suggest that non-ambulatory overweight/obese SMA patients are particularly prone to abnormalities in glucose and lipid metabolism. Young underweight patients might develop fasting hypoglycemia.

Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3.

BACKGROUND: It is unclear whether the heart is affected in pediatric patients with milder forms of spinal muscular atrophy (SMA). Therefore, we aimed to determine the presence of any cardiac abnormalities in these patients. METHODS: We conducted a cross-sectional study of children and adolescents with SMA types 2 and 3 between July 2018 and July 2019. All patients underwent a comprehensive cardiac evaluation, including history-taking, physical examination, electrocardiography, echocardiography, measurement of cardiac biomarkers (cardiac troponin T [cTnT] and N-terminal pro-brain natriuretic peptide [NT-proBNP]), and 24-hour Holter monitoring. RESULTS: In total, 42 patients were enrolled (27 and 15 with SMA type 2 and 3, respectively). No patient had structural heart disease, except for one with mitral valve prolapse. None had signs of ventricular dysfunction on echocardiography. Both cTnT and NT-proBNP levels were normal in all patients. Electrocardiography showed sinus tachycardia in seven patients (16.7%), and prolonged P-R interval in one (2.4%). Holter monitoring detected benign ventricular arrhythmias in two patients (4.8%), and rare supraventricular premature beats in one. The mean 24-hour heart rate was elevated in six patients (14.3%), whereas both the minimum 24-hour heart rate and the maximum R-R interval were increased in 23 (54.8%). DISCUSSION: The prevalence of cardiac disease in pediatric patients with SMA types 2 and 3 is low; however, these patients may have increased resting heart rates. A complete cardiac history and physical examination are a useful screen. Additional cardiac investigations may be performed as needed.

Transcatheter closure of a residual aorto-left ventricular tunnel: report of a case with a 6-year follow-up.

Aorto-left ventricular tunnel is an exceedingly rare congenital cardiac defect. Early surgical closure is the treatment of choice. Residual or recurrent tunnel and aortic valve insufficiency are well-recognised complications after surgical repair. In this article, we report on successful transcatheter closure of a residual aorto-left ventricular tunnel using an Amplatzer duct occluder in a 7-year-old boy. The outcome after 6 years of follow-up is encouraging.

Cardiac haemangioma associated with a duct-dependent congenital heart disease in a newborn infant.

Cardiac haemangiomas are exceedingly rare; however, they can cause significant haemodynamic impairment and disturbances in heart rhythm. Rarely, cardiac tumours may also coexist with congenital heart lesions. We present an extremely unusual case of a cardiac haemangioma in the setting of complex transposition of the great arteries that caused functional tricuspid atresia. To our knowledge, this is the first such case described in the literature.