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We describe the case of a 15-year-old female patient with Peutz-Jeghers syndrome who presented with vomiting and abdominal pain secondary to ileoileal invagination. Initial analgesic treatment was not effective, and subsequent tramadol infusion resulted in clinical manifestations compatible with Kounis and Takotsubo syndromes. However, the patient had an excellent recovery. (Level of Difficulty: Advanced.), Central Illustration

Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.

Supraventricular tachyarrhythmia (SVT) is the most common type of arrhythmia in childhood. Management can be challenging with an associated risk of mortality. A female neonate was diagnosed with episodes of SVT, controlled antenatally with digoxin. Flecainide was commenced prophylactically at birth. Despite treatment, the infant developed a narrow complex tachycardia at 5 days of age. The electrocardiogram features were suggestive of either re-entry tachycardia or of automatic atrial tachycardia (AAT). Following several unsuccessful treatments, a wide complex tachycardia developed. A transesophageal electrophysiological study led to a diagnosis of AAT. Stable sinus rhythm was finally achieved through increasing daily administrations of flecainide up to six times a day, in association with nadolol. The shortening of intervals to this extent has never been reported before and supports the evidence of a personal, age-specific variability in pharmacokinetics of flecainide. Larger studies are needed to better define the appropriate dose and timing of administration.

A 12-year-old male patient suffering from congenital glaucoma developed bradycardia, left ventricular failure, and hypotension after induction of anesthesia. Electrocardiography and echocardiography revealed a complete normalization of ECG and a complete spontaneous recovery in the cardiac function 72 hours from the beginning of the clinical manifestations, while cardiac Magnetic Resonance Imaging was performed, and coronary Computed Tomography scan revealed a myocardial bridge of a tract of the left anterior descendent coronary artery. Diagnosis of Kounis syndrome (KS) was made, a relatively novel, under-recognized clinical condition, defined as the manifestation of an acute coronary syndrome accompanied by mast cell activation and platelet aggregation involving interrelated and interacting inflammatory cells in the setting of allergic, hypersensitivity, anaphylactic or anaphylactoid insults. We described one of the first pediatric cases of KS related to anesthetic medications. In children, this syndrome has been only described in isolated case reports or small case series. Thus, it appears critical to report new cases of KS in children to increase the awareness of this disease in pediatric healthcare workers so as to enhance its early recognition and optimal therapeutic strategy. Furthermore, it appears of paramount importance the implementation of universal guidelines accepted by allergology and cardiology societies, in order to standardize the management of pediatric and adult patients with KS. Finally, a close collaboration between pediatric allergists and cardiologists seems fundamental for an optimal multidisciplinary patient care.

Background Supraventricular tachycardias (SVTs) are common in the first year of life and may be life-threatening. Acute cardioversion is usually effective, with both pharmacological and non-pharmacological procedures. However, as yet no international consensus exists concerning the best drug required for a stable conversion to sinus rhythm (maintenance treatment). Our study intends to describe the experience of a single centre with maintenance drug treatment of both re-entry and automatic SVTs in the first year of life. Methods From March 1995 to April 2019, 55 patients under one year of age with SVT were observed in our Centre. The SVTs were divided into two groups: 45 re-entry and 10 automatic tachycardias. As regards maintenance therapy, in re-entry tachycardias, we chose to start with oral flecainide and in case of relapses switched to combined treatment with beta-blockers or digoxin. In automatic tachycardias we first administered a beta-blocker, later combined with flecainide or amiodarone when ineffective. Results The patients’ median follow-up time was 35 months. In re-entry tachycardias, flecainide was effective as monotherapy in 23/45 patients (51.1%) and in 20/45 patients (44.4%) in combination with nadolol, sotalol or digoxin (overall 95.5%). In automatic tachycardias, a beta-blocker alone was effective in 3/10 patients (30.0%), however, the best results were obtained when combined with flecainide: overall 9/10 (90%). Conclusions In this retrospective study on pharmacological treatment of SVTs under 1 year of age the combination of flecainide and beta-blockers was highly effective in long-term maintenance of sinus rhythm in both re-entry and automatic tachycardias.

Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. Case presentation We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O2 desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative. Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms. Conclusions In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.

Importance Predictors of lethal arrhythmic events (LAEs) after a pediatric diagnosis of hypertrophic cardiomyopathy (HCM) are unresolved. Existing algorithms for risk stratification are limited to patients older than 16 years because of a lack of data on younger individuals. Objective To describe the long-term outcome of pediatric-onset HCM and identify age-specific arrhythmic risk factors. Design, Setting, and Participants This study assessed patients with pediatric-onset hypertrophic cardiomyopathy diagnosed from 1974 to 2016 in 2 national referral centers for cardiomyopathies in Florence, Italy. Patients with metabolic and syndromic disease were excluded. Exposures Patients were assessed at 1-year intervals, or more often, if their clinical condition required. Main Outcomes and Measures Lethal arrhythmic events (LAEs) and death related to heart failure. Results Of 1644 patients with HCM, 100 (6.1%) were 1 to 16 years old at diagnosis (median [interquartile range], 12.2 [7.3-14.1] years). Of these, 63 (63.0%) were boys. Forty-two of the 100 patients (42.0%) were symptomatic (defined as an New York Heart Association classification higher than 1 or a Ross score greater than 2). The yield of sarcomere gene testing was 55 of 70 patients (79%). During a median of 9.2 years during which a mean of 1229 patients were treated per year, 24 of 100 patients (24.0%) experienced cardiac events (1.9% per year), including 19 LAEs and 5 heart failure–related events (3 deaths and 2 heart transplants). Lethal arrhythmic events occurred at a mean (SD) age of 23.1 (11.5) years. Two survivors of LAEs with symptoms of heart failure experienced recurrent cardiac arrest despite an implantable cardioverter defibrillator. Risk of LAE was associated with symptoms at onset (hazard ratio [HR], 8.2; 95% CI, 1.5-68.4; P = .02) and Troponin I or Troponin T gene mutations (HR, 4.1; 95% CI, 0.9-36.5; P = .06). Adult HCM risk predictors performed poorly in this population. Data analysis occurred from December 2016 to October 2017. Conclusions and Relevance Pediatric-onset HCM is rare and associated with adverse outcomes driven mainly by arrhythmic events. Risk extends well beyond adolescence, which calls for unchanged clinical surveillance into adulthood. In this study, predictors of adverse outcomes differ from those of adult populations with HCM. In secondary prevention, the implantable cardioverter defibrillator did not confer absolute protection in the presence of limiting symptoms of heart failure.

Since 1985 a physical and instrumental cardiac study was carried out in 41 children with perinatal HIV-1 infection in order to assess the prevalence and natural history of cardiac involvement. Children were followed for 66 (range 8-109) months; eight of 41 died of HIV-1 related diseases. The cumulative proportion of children with cardiac manifestations at age of seven years was 14.9% (95% CI: 4.9-31.5%). Cardiac abnormalities were detected in eight of 41 patients (19.5%) and were more significantly (p=0.003) recorded in children who died of HIV-1 related diseases (five of eight, 62.5%). Left ventricular systolic function was normal in most patients during the follow-up and did not depend on zidovudine treatment. Two patients had a severe dilated cardiomyopathy and underwent subsequently a stable regression as far as the clinical and instrumental frame was concerned. Only one patient died because of cardiac disease. We conclude that in our group ofperinatally HIV- 1 infected children, cardiac involvement is relatively rare, represents a late complication compared to other related HIV-1 diseases and occurs in advanced stages of illness. Cardiac disease is therefore a hallmark of poor prognosis, but is rarely the ultimate cause of death.

To assess cardiac output in pediatric patients with the pressure recording analytical method (PRAM) and the Doppler echocardiography method. PRAM derives cardiac output from beat-by-beat analysis of the arterial pressure profile (systolic and diastolic phase) in the time domain.A prospective observational study.Pediatric intensive care unit at a tertiary care children's hospital.Forty-eight patients between the ages of 1 month and 18 yrs.Femoral or radial artery catheterization and mechanical ventilation.Cardiac output was simultaneously estimated by Doppler echocardiography and PRAM. Cardiac output values obtained by Doppler echocardiography (2.7 +/- 1.6 L/min, range 0.92-8.20) were significantly correlated with those estimated by PRAM (2.6 +/- 1.7 L/min, range 0.89-7.48; r2 = .99, p.01). The mean difference between the two estimates was 0.12 +/- 0.27 L x min(-1) (95% confidence interval, -0.54 to 0.77 L x min(-1)).In the range of ages evaluated, PRAM provides reliable estimates of cardiac output when compared with noninvasive techniques.

Renal artery stenosis, mainly due to fibromuscular dysplasia, is the second more common cause of arterial hypertension in children, after aortic coarctation. Two children sent to our Center of Pediatric Cardiology, one for arterial hypertension and the other for renal failure (associated with severe hypertension not previously recognized) are reported. In both of them the diagnosis of renal artery stenosis was established at Doppler ultrasonography, performed at the time of Doppler echocardiography. Both children were submitted to successful percutaneous transluminal angioplasty; short- and medium-term results are evaluated by Doppler ultrasonography. Renovascular disease is a potentially curable cause of renal artery stenosis in children. Renal artery evaluation by Doppler ultrasound is recommended in all hypertensive children who undergo Doppler echocardiography.