The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report.

Background: TANGO2-related metabolic encephalopathy and arrhythmia are a rare, newly recognized, and likely under-diagnosed condition. First described in 2016, it is characterized by developmental delay and recurrent metabolic crisis. During these episodes, patients may present QTc prolongation and ventricular arrhythmias. Case summary: A 13-year-old female, with developmental delay, presented with severe rhabdomyolysis and an initially normal electrocardiogram (ECG). Due to the worsening of rhabdomyolysis, QTc prolongation was identified (QTc 570 ms) and oral ß-blocker therapy started. A non-sustained ventricular tachycardia developed, initially managed with magnesium and lidocaine. After a short period, an arrhythmic storm of polymorphic ventricular extrasystoles induced Torsade de Pointes (TdP) was triggered. A temporary percutaneous pacing lead was placed and esmolol infusion started. The electrical instability ran in parallel with the increasing severity of rhabdomyolysis and systolic ventricular function decline. Genetic testing identified a pathogenic variant in homozygosity in the TANGO2 gene. A stable sinus rhythm was achieved with metabolic and serum electrolytes optimization. ECG showed normalization of the QTc interval. Discussion: The full TANGO2-related phenotype emerges over time and the prognosis is linked to the appearance of ECG abnormalities. QT interval prolongation can lead to life-threatening ventricular tachycardias. The arrhythmia mechanism seems to be secondary to metabolite build-up in cardiomyocytes, which can explain the cardiac phenotype during the crisis which subsides after their resolution. In these patients, avoiding bradycardia is fundamental, since long QT-related TdP seems to be triggered by bradycardia and short-long-short ventricular premature beats (VPB). During an acute metabolic crisis, the management of arrhythmias relies on metabolic control.

A Rare but Real Necessity: Case Report of Coronary Artery Stenting in an Infant.

Percutaneous coronary intervention (PCI) is an extremely common and well-established procedure in adults which is rarely performed in children. We present a case of a successful left main coronary artery stenting in a small infant with a congenital coronary artery anomaly. We highlight the technical challenges of performing a PCI in a small patient, the risks of antithrombotic prophylaxis in this age group, and the importance of the combined work of the adult and pediatric interventional cardiologist.

Campylobacter coli Myocarditis: a case report.

We report the case of a 14-year-old male presented with raised myocardial injury biomarkers, on the workout, Campylobacter coli was identified on stool culture, treated with antibiotics with total resolution. Cardiac magnetic resonance showed interventricular septum and lateral wall hypokinesia and subepicardial delayed enhancement, with preserved ventricular systolic function. To our knowledge, this is the first report linking Campylobacter coli to myopericarditis in children.

Paediatric giant cell myocarditis: a case report.

A previously healthy 15-year-old teenage boy was admitted for fever and heart failure. Myocarditis was suspected, and endomyocardial biopsy revealed giant cell myocarditis. Immunosuppressive treatment was initiated, with excellent response. A plausible link to previous leptospirosis was identified. At 18-month follow-up, left ventricular function is normal. Only one other reported case of paediatric giant cell myocarditis had such a favourable outcome.

Acquired anomalies of the coronary arteries after arterial switch operation. Usefulness of coronary computed tomography angiography and impact on follow-up.

INTRODUCTION: Mortality and morbidity in patients with transposition of the great arteries after an arterial switch operation depends mainly on the status of coronary perfusion. Coronary computed tomography angiography (CCTA) provides accurate information on coronary morphology, however its use in these patients is not yet routine procedure. OBJECTIVE: We sought to assess its accuracy to identify acquired coronary anomalies in this population, compared to conventional angiography in a subset of patients, and assess its impact on postoperative management. METHODS: Retrospective analysis of clinical data on transposition of the great arteries in patients who underwent CCTA between January 2013 and September 2017. RESULTS: Between January 2013 and September 2017, 18 patients underwent CCTA. Seven patients (39%) disclosed iatrogenic coronary lesions (stenosis 1; kinking 2, occlusion 1; filiform coronary 3). The exam was performed in 78% of patients due to suggestion of myocardial ischemia (symptoms or altered exams). Only 16% needed to undergo additional exams, and in four patients the CCTA result modified therapeutic management. Conventional coronary angiography was also performed in 10 patients (55%), and in three cases, the results were discordant with underestimation or non-identification of coronary lesions on conventional angiography. The medium radiation dose used was 2.4 mSv and no complications after CT were reported. CONCLUSION: CCTA accurately identified iatrogenic postoperative coronary lesions and it has proven to be superior to conventional angiography in this population. It should be performed routinely in this group of patients, even in the absence of symptoms.

Acquired anomalies of the coronary arteries after arterial switch operation. Usefulness of coronary computed tomography angiography and impact on follow-up.

INTRODUCTION: Mortality and morbidity in patients with transposition of the great arteries after an arterial switch operation depends mainly on the status of coronary perfusion. Coronary computed tomography angiography (CCTA) provides accurate information on coronary morphology, however its use in these patients is not yet routine procedure. OBJECTIVE: We sought to assess its accuracy to identify acquired coronary anomalies in this population, compared to conventional angiography in a subset of patients, and assess its impact on postoperative management. METHODS: Retrospective analysis of clinical data on transposition of the great arteries in patients who underwent CCTA between January 2013 and September 2017. RESULTS: Between January 2013 and September 2017, 18 patients underwent CCTA. Seven patients (39%) disclosed iatrogenic coronary lesions (stenosis 1; kinking 2, occlusion 1; filiform coronary 3). The exam was performed in 78% of patients due to suggestion of myocardial ischemia (symptoms or altered exams). Only 16% needed to undergo additional exams, and in four patients the CCTA result modified therapeutic management. Conventional coronary angiography was also performed in 10 patients (55%), and in three cases, the results were discordant with underestimation or non-identification of coronary lesions on conventional angiography. The medium radiation dose used was 2.4 mSv and no complications after CT were reported. CONCLUSION: CCTA accurately identified iatrogenic postoperative coronary lesions and it has proven to be superior to conventional angiography in this population. It should be performed routinely in this group of patients, even in the absence of symptoms.

Iatrogenic fistula between the aorta and the right ventricular outflow tract after Melody valve implantation: Case report and literature review.

We present the first case of an iatrogenic aorta to right ventricular outflow tract fistula after Melody valve implantation. A 11-year-old girl, born with tetralogy of Fallot with absent pulmonary valve, underwent surgical repair at three years old with a 15-mm homograft. At five years old, calcification and stenosis of the homograft prompted successful balloon angioplasty and five years later she underwent Melody valve implantation. During follow-up, she began to suffer fatigue on moderate exertion. Echocardiography, cardiac catheterization and computed tomography were performed and showed a significant fistula between the right coronary ostium and the right ventricular outflow tract proximal to the implanted valve. The patient underwent surgical repair and in long-term follow-up there is no evidence of the fistula. Iatrogenic fistula between the ascending aorta and the right ventricular outflow tract after percutaneous pulmonary valve implantation is an uncommon complication, and may grow over time. A high level of suspicion is required for this rare complication and a final aortography may be necessary for the diagnosis.

A Very Rare Case of Coronary Artery Bypass Grafting in a Progeria Child.

Hutchinson-Gilford progeria syndrome is a rare genetic disorder, characterized by progressive premature aging and early death in the first or second decade of life, usually secondary to cardiovascular events (myocardial infarction and stroke). We report a case of a 14-year-old boy with progeria syndrome and cardiac arrest due to myocardial infarction, who was submitted to an immediate coronary angiography which revealed left main stem and three-vessel coronary artery disease. A prompt double bypass coronary artery grafting surgery was performed, and, despite successful coronary reperfusion, the patient remained in coma and brain death was declared on fourth day after surgery.

Uhl's disease: An uncommon presentation of a rare disease.

Uhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. The present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease.

Congenital heart disease in adults: Assessmentof functional capacity using cardiopulmonary exercise testing.

AIM: The aim of the study was to compare functional capacity in different types of congenital heart disease (CHD), as assessed by cardiopulmonary exercise testing (CPET). METHODS: A retrospective analysis was performed of adult patients with CHD who had undergone CPET in a single tertiary center. Diagnoses were divided into repaired tetralogy of Fallot, transposition of the great arteries (TGA) after Senning or Mustard procedures or congenitally corrected TGA, complex defects, shunts, left heart valve disease and right ventricular outflow tract obstruction. RESULTS: We analyzed 154 CPET cases. There were significant differences between groups, with the lowest peak oxygen consumption (VO2) values seen in patients with cardiac shunts (39% with Eisenmenger physiology) (17.2±7.1ml/kg/min, compared to 26.2±7.0ml/kg/min in tetralogy of Fallot patients; p<0.001), the lowest percentage of predicted peak VO2 in complex heart defects (50.1±13.0%) and the highest minute ventilation/carbon dioxide production slope in cardiac shunts (38.4±13.4). Chronotropism was impaired in patients with complex defects. Eisenmenger syndrome (n=17) was associated with the lowest peak VO2 (16.9±4.8 vs. 23.6±7.8ml/kg/min; p=0.001) and the highest minute ventilation/carbon dioxide production slope (44.8±14.7 vs. 31.0± 8.5; p=0.002). Age, cyanosis, CPET duration, peak systolic blood pressure, time to anaerobic threshold and heart rate at anaerobic threshold were predictors of the combined outcome of all-cause mortality and hospitalization for cardiac cause. CONCLUSION: Across the spectrum of CHD, cardiac shunts (particularly in those with Eisenmenger syndrome) and complex defects were associated with lower functional capacity and attenuated chronotropic response to exercise.

Long-term results of percutaneous balloon valvuloplasty in neonatal critical pulmonary valve stenosis: a 20-year, single-centre experience.

Introduction Percutaneous balloon valvuloplasty is the primary treatment for critical pulmonary valve stenosis in neonates. Thus far, a few studies have reported long-term results of this technique in neonatal critical pulmonary valve stenosis. METHODS: We carried out a retrospective study of all consecutive newborns with critical pulmonary valve stenosis subjected to percutaneous balloon valvuloplasty at a single centre, between 1994 and 2014, to assess its immediate and long-term safety and efficacy. RESULTS: A total of 24 neonates presented with critical pulmonary valve stenosis. The mean diameter of the pulmonary annulus was 7 mm (±1.19); 33.3% had a dysplastic pulmonary valve, and 92% were started on prostaglandin E1 treatment. Percutaneous balloon valvuloplasty was performed at a mean age of 4.0±4.3 days using, on average, a balloon-to-pulmonary annulus ratio of 1.18 mm (with a range from 0.9 to 1.43). Immediate success was achieved in 22/24 patients (92%) with a reduction in the pulmonary transvalvular peak gradient (p<0.05) and in the right ventricle/systemic pressure ratio (p<0.05). There was one death (4%) 6 days after the procedure, and 29.2% of them had transient rhythm complications. For a mean follow-up time of 8.4 years, the re-intervention rate was 42.9%. In total, 14 re-interventions were performed in nine neonates, including surgery in six. Freedom from re-intervention was 50% at 8 years and 43% at 10 and 15 years. CONCLUSION: This series, to the best of our knowledge, has had the longest follow-up of neonates with critical pulmonary valve stenosis. Percutaneous balloon valvuloplasty is a safe and effective treatment, and in our study 75% of the patients were exclusively treated using this technique.

Successful percutaneous closure of a residual atrial septal defect due to device failure.

A 39-year-old woman underwent uneventful percutaneous occlusion of an ostium secundum atrial septal defect (ASD) with a 22 mm Ultrasept ASD Occluder®. Transesophageal echocardiography (TEE) performed two years after implantation revealed a de novo residual left-to-right shunt through the correctly implanted device. Three-dimensional transesophageal echocardiography (3D TEE) further clarified this finding by showing a perforation of the device membrane coating. The patient underwent transcatheter closure of the residual shunt with a 20 mm Ultrasept PFO® device. The procedure was guided by fluoroscopy and real-time 3D TEE. At the end of the procedure 3D TEE documented correct device deployment with complete defect coverage and absence of residual shunt.

Vascular function long term after Kawasaki disease: another piece of the puzzle?

BACKGROUND: Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. Thus far, endothelial dysfunction in patients with no coronary lesions is poorly understood. Our aim was to access the vascular function in adolescents and young adults long term after Kawasaki disease, but without coronary aneurysms or any other cardiac risk factors. METHODS: We carried out a single-centre prospective study in a Portuguese population. We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed >5 years ago, with no coronary lesions or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically assessed. Endo-PAT and carotid intima-media thickness assessment were performed to determine vascular function. RESULTS: In total, 43 Kawasaki disease patients were assessed and compared with 43 controls. Kawasaki disease patients presented a decreased reactive hyperaemia index compared with controls (1.59±0.45 versus 1.98±0.41; p<0.001). Augmentation index was similar in both groups (-4.5±7 versus -5±9%; p 0.6). The mean carotid intima-media thickness was not significantly increased in the Kawasaki disease group. There were no statistically significant changes with regard to laboratory data. CONCLUSIONS: Children with Kawasaki disease may have long-term sequelae, even when there is no discernible coronary artery involvement in the acute stage of the disease. Further research is needed to assess whether known strategies to improve endothelial function would bring potential benefits to Kawasaki disease patients.

Twelve Years of Kawasaki Disease in Portugal: Epidemiology in Hospitalized Children.

BACKGROUND: Kawasaki disease (KD) is the leading cause of acquired heart disease in developed countries. Reported incidences vary worldwide but incidence of KD has not been established in Portugal. AIM: The aims of the study were to describe the epidemiologic characteristics and estimate incidence rates of KD among hospitalized children in Portugal. METHODS: This study was a descriptive, population-based study, which used hospital discharge records of patients <20 years of age diagnosed with KD from the Hospital Register database for 2000-2011. Incidence rates were calculated using the number of KD patients and corresponding National census data. RESULTS: There were 533 hospitalizations of 470 patients with KD as the primary diagnosis in Portugal, 63 hospitalizations were transfers of patients between hospitals and there were no relapses. The mean age at admission was 2.8 years, with male predominance (male-to-female ratio: 1.6:1). Children <5 years and infants <1 year represented 83% and 23% of all the patients admitted, respectively. Mean annual incidence was 6.5 per 100,000 children <5 years, 4.5 per 100,000 infants <1 year and 7.8 per 100,000 infants 1-4 years. We found considerable differences between national territorial regions, with majority of cases in most dense regions. The mean length of hospital stay was 9 days, and the incidence peaked in spring (35%) and spring/winter (63%). Coronary aneurysms were reported in 8.5% of patients with a higher male-to-female ratio (3.4:1) and a lower mean age (1.93 years). Reported mortality was 0.4%. CONCLUSIONS: This is the first large-scale epidemiologic study of KD in Portugal. The highest incidences occurred among male children 1-4 years of age and in spring/winter.