Annals of Pediatric Cardiology最新文献

A rare but historically significant variant of transposition of the great arteries (TGA) was first identified in 1971. A posterior and rightward-positioned aorta, an underdeveloped subaortic conus, and a well-developed subpulmonary conus characterize this entity. The relationship of the great vessels mimics that of normally related great arteries, with the pulmonary artery positioned anteriorly and the aorta located posteriorly. This report describes a patient with such a variant of TGA, associated with a ventricular septal defect, who underwent a successful arterial switch operation. Despite the unusual positioning of the great arteries, coronary artery transfer and pulmonary artery anastomosis were effectively performed. Although published literature advises against performing LeCompte's maneuver in such anatomy, we performed the maneuver in this case with anterior and posterior looping coronaries to protect the proximal coronary arteries from excessive stretch.

Transcatheter closure of atrial septal defect (ASD) is the preferred modality of treatment. Pericardial effusion occurring late after ASD device closure is extremely rare, and device-related erosion is the most likely possibility. We describe a 41-year-old male who underwent ASD device closure with a 32-mm Amplatzer Septal Occluder device and who developed cardiac tamponade 6 months after the procedure. Extensive investigations did not reveal any evidence of erosion. Given the endemicity of tuberculosis in India, exudative pericardial effusion, a positive tuberculin skin test, and the presence of a few matted mediastinal lymph nodes, the patient was started on antitubercular therapy. There was no reaccumulation of pericardial fluid at subsequent follow-ups. To conclude, not all hemorrhagic pericardial effusions following device closure of ASD are secondary to erosions. After ruling out device erosion, other etiologies for pericardial effusion should be carefully searched for.

Fetal echocardiography is now an indispensable tool to detect a wide range of cardiac anomalies in utero. The cardiac evaluation for congenital heart disease follows the sequential segmental analysis, and the first step is the determination of the abdominal situs and cardiac position. There is a range of complex cardiac anomalies in heterotaxy syndromes, and the determination of fetal situs is of foremost importance in understanding the complex cardiac anomalies. Students of fetal echocardiography always have a dilemma when deciding on fetal situs. Here, we describe a simple way of easily determining fetal situs.

Imaging details of asymptomatic, nonischemic cases of anomalous left coronary artery from the pulmonary artery (ALCAPA) diagnosed in infancy are not well established. A 6-month-old girl was diagnosed with ALCAPA but showed normal left ventricular contraction. Echocardiography and coronary angiography revealed abundant collateral pathways from the right coronary artery to the left coronary artery (LCA), with the opening of the pulmonary artery narrowed to 1.5 mm and a restricted continuous flow from the LCA to the pulmonary artery. Coronary ostial stenosis could be one of the findings in asymptomatic, nonischemic ALCAPA.

Background: Aortic coarctation is a congenital heart disease characterized by narrowing of the distal aortic arch or isthmus. Its management relies on arterial hypertension, stenosis severity, and peak-to-peak gradients. Despite various assessment methods, there is limited discussion on measuring stenosis using computed tomography (CT) angiography and its correlation with clinical, echocardiographic, and invasive gradients, as well as surgical or endovascular indications.

Materials and methods: This retrospective study included 129 patients with aortic coarctation or recoarctation who underwent clinical, echocardiographic, catheterization, and CT angiography. Patients with mid-arch hypoplasia and patent ductus arteriosus were excluded from the study. CT angiography was used, and detailed measurements of the aortic isthmus and diaphragmatic aorta were performed, including isthmus-to-diaphragm ratios, body surface area-indexed measurements, and z-scores.

Results: Multiple parameters presented moderate-to-high correlation with echocardiographic and invasive gradients. The best discriminator for significant invasive gradient (>20 mmHg) was the hydraulic diameter Pediatric Heart Network z-score (area under the receiver operating characteristic curve = 0.869), and the best predictor for intervention was the minimum diameter Detroit z-score (P < 0.001). The isthmus-to-diaphragm area ratio presented good diagnostic accuracy (area under the receiver operating characteristic curve = 0.814), with an optimal cutoff of 0.73 for a significant invasive gradient. Interobserver reliability was high (>0.9) for all measurements.

Conclusion: CT angiography-derived isthmus-to-diaphragmatic area ratio is a simple, accurate, and reliable assessment of aortic coarctation and recoarctation severity. These findings support its use in clinical decision-making and suggest potential for standardized protocols.

Background: Research on pediatric restrictive cardiomyopathy (RCM), especially from the developing world, is limited. The study aimed to describe the clinical features and outcomes of childhood RCM and the predictors of outcome.

Methods: The study included all children with RCM who were < 18 years old. Exclusion criteria were prior exposure to chemotherapy or radiotherapy, reduced left ventricular (LV) ejection fraction, congenital heart defects not part of any malformation syndromes, and RCM with thickened LV wall or septal thickness signifying any overlap with hypertrophic cardiomyopathy.

Results: During the 30-year study period (1990-2020), 233 cases of pediatric cardiomyopathy were identified, out of which 33 cases had RCM (14%). No RCM patient presented in the neonatal period, and 12% had presented in infancy. A syndromic, metabolic, or genetic disease was identified in 9% of cases. Endomyocardial fibrosis was diagnosed in four (12%) children. Two patients were in atrial fibrillation, one in atrial flutter, two were in junctional rhythm, and 21.8% had first-degree atrioventricular block. Twelve patients had cardiac magnetic resonance imaging done. Subendocardial late gadolinium enhancement was present in five. Out of the 33 patients, the outcome is known in 15, out of whom eight died and seven were alive. Four died of sudden cardiac death, and four from heart failure. The 5-year survival rate of RCM was calculated to be 67%, and the 10-year survival rate was 48%. The relationship between death and a history of syncope was close to statistical significance (P = 0.07).

Conclusions: RCM constituted a higher proportion of pediatric cardiomyopathies in our study than reported in most published literature. Despite relatively early clinical presentation, survival outcomes of pediatric RCM tend to be worse.

Cardiospondylocarpofacial syndrome (CSCF) is a rare congenital disorder characterized by growth impairment, polyvalvular heart diseases, and skeletal anomalies caused by a mutation in the mitogen-activated protein three kinase seven (MAP3K7) gene. It encodes transforming growth factor-β activated kinase1 (TAK1), a member of the mitogen-activated protein kinase (MAPK) family, and is responsible for abnormal skeletal and cardiac morphogenesis. We report a case of CSCF syndrome with a novel variant of the MAP3K7 gene c.710 C>T (p.F237s) in a newborn who has severe dilated cardiomyopathy (DCM) and congenital heart disease (CHD) and presented with acute heart failure (HF). DCM has not been reported before with CSCF. This case emphasizes the role of genetic testing in diagnosing the syndromic neonate with DCM.

We report a case of a term neonate presenting with anomalous origin of the right coronary artery from the pulmonary trunk, an aortopulmonary window, interrupted aortic arch type A, and an atrial septal defect within the oval fossa. The infant, admitted in cardiogenic shock, was stabilized with fluid resuscitation, intubation, and inotropic support. Comprehensive imaging revealed the complex cardiac anomalies. Surgical intervention successfully addressed all the lesions. The patient showed excellent postoperative recovery, with no complications at 6 months. Our experience underscores the critical need for detailed preoperative assessment in managing complex congenital heart defects.