Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.

BACKGROUND: Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in MLASA in which anemia and myopathy predominate. Severe pulmonary arterial hypertension has not been previously reported in patients with PUS1 gene mutation. CASE REPORT: A 17 year old girl with congenital sideroblastic anemia presented with worsening of breathlessness. Severe pulmonary artery hypertension was documented on investigations. A homozygous variant in exon 3 of gene PUS1,( chromosome 12:g.131932301 C > T c.430 C > T) was found on sanger sequencing. CONCLUSION: We document severe pulmonary arterial hypertension in a patient of congenital sideroblastic anemia from PUS1 gene. We hypothesis that cross talk with TGFb pathways might occur in PUS1 mutation, and that might cause severe PAH. This observation might have therapeutic implications.

Pulmonary arterial compliance in patients of CHD with increased pulmonary blood flow.

INTRODUCTION: Pulmonary arterial compliance, the dynamic component of pulmonary vasculature, remains inadequately studied in patients with left to right shunts. We sought to study the pulmonary arterial compliance in patients with left to right shunt lesions and its utility in clinical decision-making. MATERIALS AND METHODS: In this single-centre retrospective study, we reviewed cardiac catheterisation data of consecutive patients of left to right shunt lesions catheterised over one year. In addition to the various other parameters, pulmonary arterial compliance was calculated, as indexed pulmonary flow (Qpi) / (Heart rate × pulse pressure in the pulmonary artery). RC time was also calculated, as the product of pulmonary arterial compliance and pulmonary vascular resistance index. Patients were divided into "operable," "borderline," and "inoperable" based on the decision of the treating team, and the pulmonary arterial compliance values were evaluated in these groups to study if it can be utilised to refine the operability decision. RESULTS: 298 patients (Median age 16 years, 56% <18 years) with various acyanotic shunt lesions were included. Overall, the pulmonary arterial compliance varied with Qpi, pulmonary artery mean pressure, and pulmonary vascular resistance index, but did not vary with age, type of lesion, or transpulmonary gradients. The median pulmonary arterial compliance in patients with normal pulmonary artery pressure (Mean pulmonary artery pressure less than 20 mmHg) was 4.1 ml/mmHg/m2 (IQR 3.2). The median pulmonary arterial compliance for operable patients was 2.67 ml/mmHg/m2 (IQR 2.2). Median pulmonary arterial compliance was significantly lower in both inoperable (0.52 ml/mmHg/m2, IQR 0.34) and borderline (0.80 ml/mmHg/m2, IQR 0.36) groups when compared to operable patients (p < 0.001). A pulmonary arterial compliance value lower than 1.18 ml/mmHg/m2 identified inoperable patients with high sensitivity and specificity (95%, AUC 0.99). However, in borderline cases, assessment by this value did not agree with empirical clinical assessment.The median RC time for the entire study population was 0.47 S (IQR 0.30). RC time in operable patients was significantly lower than that in the inoperable patients (Median 0.40 IQR 0.23 in operable, 0.73 0.25 in inoperable patients (p < 0.001). CONCLUSIONS: Addition of pulmonary arterial compliance to the routine haemodynamic assessment of patients with shunt lesions may improve our understanding of the pulmonary circulation and may have clinical utility.

Failure to wean off after a routine total anomalous pulmonary venous connection operation: An uncommon association.

A 6-month-old infant was operated on for supracardiac total anomalous pulmonary venous connection (TAPVC) with usual anatomy. The vertical vein was ligated. Weaning from bypass was attempted twice but was unsuccessful. Coronary sinus atresia was suspected and identified on the opening of the right atrium. A smooth postoperative course occurred after unroofing the coronary sinus. Coronary sinus atresia should be remembered as an uncommon association with TAPVC.

Lack of "ventricular interdependence" in constrictive pericarditis and atrial septal defect.

Ventricular interdependence, i.e., reciprocal variations in the left and right ventricle pressures with respiration, is a hallmark of the hemodynamic diagnosis of constrictive pericarditis (CP). Similarly, respiratory variations in the mitral and tricuspid valve Doppler inflow velocities on echocardiogram are very helpful in the diagnosis of CP. We document the absence of such variations in a patient with CP and associated atrial septal defect. It is important to be mindful of this intuitively obvious fact; otherwise, the diagnosis of CP might be missed.

Arterial thoracic outlet syndrome in an adolescent.

Arterial thoracic outlet syndrome (aTOS) is rarely diagnosed in children. A 15-year-old boy with recent-onset claudication was found to have aTOS on investigation. Bony abnormality other than the cervical rib might also cause aTOS. Enhanced awareness of aTOS as a cause of vascular symptoms in children is warranted.

Clarifying the anatomy of the superior sinus venosus defect.

OBJECTIVES: We sought to clarify the variations in the anatomy of the superior cavoatrial junction and anomalously connected pulmonary veins in patients with superior sinus venosus defects using computed tomographic (CT) angiography. METHODS: CT angiograms of 96 consecutive patients known to have superior sinus venosus defects were analysed. RESULTS: The median age of the patients was 34.5 years. In seven (7%) patients, the defect showed significant caudal extension, having a supero-inferior dimension greater than 25 mm. All patients had anomalous connection of the right superior pulmonary vein. The right middle and right inferior pulmonary vein were also connected anomalously in 88 (92%) and 17 (18%) patients, respectively. Anomalous connection of the right inferior pulmonary vein was more common in those with significant caudal extension of the defect (57% vs 15%, p=0.005). Among anomalously connected pulmonary veins, the right superior, middle, and inferior pulmonary veins were committed to the left atrium in 6, 17, and 11 patients, respectively. The superior caval vein over-rode the interatrial septum in 67 (70%) patients, with greater than 50% over-ride in 3 patients. CONCLUSION: Anomalous connection of the right-sided pulmonary veins is universal, but is not limited to the right upper lobe. Not all individuals have over-riding of superior caval vein. In a minority of patients, the defect has significant caudal extension, and anomalously connected pulmonary veins are committed to the left atrium. These findings have significant clinical and therapeutic implications.

Heart Failure in a Child: Multimodality Approach Leading to an Unusual Cause.

Heart failure secondary to isolated pulmonary artery vasculitis is rarely described in children. We describe a 10-year-old child who presented with right heart failure symptoms, severe pulmonary hypertension, and bilateral branch pulmonary artery stenosis secondary to isolated pulmonary artery vasculitis. (Level of Difficulty: Advanced.).

Outcome of COVID-19-positive children with heart disease and grown-ups with congenital heart disease: A multicentric study from India.

BACKGROUND: Outcome data of children with heart disease who acquired COVID-19 infection are limited. AIMS: We sought to analyze outcome data and identify risk factors associated with mortality in children with heart disease and grown-ups with congenital heart disease (GUCH) who had a laboratory-confirmed COVID-19 infection. SETTINGS AND DESIGN: This is a retrospective, multicentric, observational study. MATERIALS AND METHODS: The study included children with heart disease and GUCH population, who presented with either symptomatic or asymptomatic COVID-19 infection to any of the participating centers. COVID-19-negative patients admitted to these centers constituted the control group. RESULTS: From 24 pediatric cardiac centers across India, we included 94 patients with a median age of 12.5 (interquartile range 3-96) months and 49 (52.1%) patients were males. Majority (83 patients, 88.3%) were children. One-third of the patients (n = 31, 33.0%) had acyanotic congenital heart disease, and 41.5% (n = 39) were cyanotic, with > 80% of the patients being unoperated. Only 30 (31.9%) patients were symptomatic for COVID-19 infection, while the rest were incidentally detected positive on screening. A total of 13 patients died (case fatality rate: 13.8%). The in-hospital mortality rate among hospitalized patients was significantly higher among COVID-19-positive cases (13 of 48; 27.1%) as compared to COVID-negative admissions (9.2%) during the study period (P < 0.001). On multivariate analysis, the independent predictors of mortality among COVID-19-positive cases were severity of illness at admission (odds ratio [OR]: 535.7, 95% confidence interval [CI]: 6.9-41,605, P = 0.005) and lower socioeconomic class (OR: 29.5, 95% CI: 1.1-814.7, P = 0.046). CONCLUSIONS: Children with heart disease are at a higher risk of death when they acquire COVID-19 infection. Systematic preventive measures and management strategies are needed for improving the outcomes.

Non-specific aortoarteritis (NSAA) in children: a prospective observational study.

Objective: Prospective data on clinical profile, natural history and outcomes of NSAA (non-specific aortoarteritis) in children is limited. We initiated this prospective study to evaluate the short-term and medium-term outcomes of NSAA in children. Design: Prospective observational study. Setting: Tertiary care hospital in India. Patients: We included 28 consecutive children (<15 years) with a diagnosis of NSAA. Main outcome measures: Clinical profile, symptoms, left ventricular ejection fraction (LVEF), the pattern of vessel involvement, complications and markers of disease activity were assessed at the time of diagnosis. All the patients underwent treatment and interventions as per the current guidelines and were followed up for a mean duration of 13.5±6.7 months for disease activity and outcomes. Results: The mean age of the cohort was 10±2.9 years (14 boys). Twenty (71%) patients had hypertension. Half of the children presented with acute decompensated heart failure (ADHF). Only 21 patients (75%) met Sharma et al modified Ishikawa criteria for the diagnosis. The children with active disease (36%) were managed with immunosuppressive drugs. Percutaneous and surgical interventions were performed in 26 (93%) children. New York Heart Association functional class, LVEF and control of hypertension improved in most children on follow-up. Four children developed vascular restenosis requiring reinterventions. There was no death during mid-term follow-up. Conclusions: Children with NSAA, unlike adults seldom present with classical features of the disease. ADHF and ventricular dysfunction are strikingly common in children. Appropriate immunosuppressive therapy for active disease and timely intervention improves clinical outcomes over a medium term follow-up. Future studies assessing long-term outcome are needed.

Delivery sheath tip invagination - An unusual cause of failure to retrieve duct occluder.

Transcatheter closure of patent ductus arteriosus is the standard of care. Retrieval of a duct occluder device is generally easy until it is detached from the delivery cable. We report two instances of failed retrieval of the device due to sheath tip invagination. The report highlights the importance of prompt identification of the mechanism of unforeseen complications in managing them effectively.

Ivabradine Versus Amiodarone in the Management of Postoperative Junctional Ectopic Tachycardia: A Randomized, Open-Label, Noninferiority Study.

OBJECTIVES: This study sought to compare the efficacy of ivabradine and amiodarone in the management of postoperative junctional ectopic tachycardia (JET) after cardiac surgery in children. BACKGROUND: JET is a serious arrhythmia occurring in children after cardiac surgery and requires aggressive management. Amiodarone has been conventionally used in its treatment. Recent studies have reported the utility of ivabradine in this regard. METHODS: In this open-label randomized controlled trial, 94 children (age ≤18 years) who developed postoperative JET were allocated to receive either amiodarone or ivabradine. The primary endpoint was restoration of normal sinus rhythm. RESULTS: Sinus rhythm was achieved in 43 out of the 46 patients (93.5%) in the amiodarone group and 46 out of the 48 patients (95.8%) in the ivabradine group (mean difference of treatment effect: 2.3%; 95% confidence interval: -6.7% to 11.5%). The median (interquartile range) time taken to achieve sinus rhythm conversion was similar in both the groups: 21.5 (17-30.2) hours versus 22 (13.4-38.5) hours (p = 0.36)]. The time taken to rate control of JET was significantly less in the amiodarone group: median 7.0 (5.5-9.5) hours versus 8.0 (5.8-10.8) hours (p = 0.02)]. No drug-related adverse events were observed in the ivabradine group. CONCLUSIONS: Oral ivabradine is not inferior to intravenous amiodarone in converting postoperative JET to sinus rhythm. There was no difference in time taken to sinus rhythm conversion between the groups, although the rate control was earlier in patients who received amiodarone. Monotherapy with ivabradine may be considered as an alternative to amiodarone in the management of postoperative JET. (Comparison of Two Drugs, Ivabradine and Amiodarone, in the Management of Junctional Ectopic Tachycardia, an Abnormality in Cardiac Rhythm in Patients Under 18 years Who Undergo Cardiac Surgery: CTRI/2018/08/015182).

A rare pediatric case of bilateral bronchopulmonary vascular malformations and right isomerism.

We present an unusual case of an 18-day-old term neonate with coexistent bilateral bronchopulmonary vascular malformations and right isomerism. This case highlights the importance of computed tomography angiography in depicting such complex anomalies and classifying them according to components involved providing a systematic approach for evaluation of the disease process.

An evidence-based scoring system to diagnose acute rheumatic fever with carditis in children.

BACKGOUND: Acute rheumatic fever (ARF) with carditis and chronic rheumatic heart disease (RHD) may be difficult to differentiate and may lead to missed diagnosis of carditis. We aimed to determine differences between these groups and to develop a new scoring system for this purpose. METHODS: Children (N = 514; mean age 11.6 ± 2.8, range 5-18 years; 65% males) enrolled in a RHD registry at a tertiary care centre were studied. Clinical, laboratory and echocardiographic features of acute rheumatic carditis group (N = 126) were compared with chronic RHD group (N = 388). We performed multiple regression analysis and then developed a new scoring system using independent predictors. Accuracy of this scoring system was assessed using receiver operating characteristic (ROC) curve analysis. RESULTS: Patients with ARF and carditis were younger, more commonly had history of fever, arthritis/arthralgias and had worse NYHA class. On echocardiography, severity of mitral regurgitation, presence of mitral leaflet nodules, mitral valve prolapse and pericardial effusion were more common in ARF group. On multiple regression analysis, following features were found to be independently predictive of ARF with carditis: age -negative association, NYHA class, severity of mitral regurgitation, mitral leaflet nodules, erythrocyte sedimentation rate and antistreptolysin titer. Based on these 6 variables, a new scoring system (0-13) was developed. A score of 5 or more was found to be best threshold for diagnosis of carditis (ROC AUC 0.87, sensitivity 76%, specificity 79%). CONCLUSION: A new scoring system based on independent statistical associations appears promising for differentiating ARF with carditis from chronic RHD.