Antonio J. Cartón

Determinación de valores normalizados del desplazamiento sistólico del plano del anillo tricuspídeo (TAPSE) en 405 niños y adolescentes españoles

INTRODUCTION AND OBJECTIVES Tricuspid annular plane systolic excursion (TAPSE) is an echocardiographic measure that allows us to assess right ventricular systolic function. TAPSE measurement is common in adults but reference values for children are scarce. Our objective was to establish reference values for TAPSE in Spanish children and to determine the relationship of these values with age and body surface. METHODS This prospective study included 405 patients (from newborn to age 18 years, 53% male) referred for assessment of cardiac murmurs. Patients with confirmed cardiac or any other disease were excluded. We collected TAPSE measurements by M-mode echocardiography and recorded anthropometric variables. We analyzed the intra- and interobserver reproducibility of these measurements. RESULTS Mean TAPSE values were 17.09 ± 5.09 cm with nonsignificant differences between sexes. A curvilinear regression model proved appropriate, with values increasing in proportion to age group, height, weight, body mass index, and body surface. Body surface showed a strong positive correlation with TAPSE values (r = 0.81), whereas frequency had a negative correlation (r = -0.74). Multivariate analysis confirmed these correlations and the interactions between variables (age, height, weight, body surface). Graphs of estimated normal population-based TAPSE values adjusted by age and body surface are provided. CONCLUSIONS We present reference values for TAPSE in Spanish children and adolescents. The TAPSE measurement was reproducible and associated directly with age and body surface. These reference values could guide decision making in daily clinical practice.

Usefulness of 64-detector computed tomography in the diagnosis and management of patients with congenital heart disease.

INTRODUCTION AND OBJECTIVES Although congenital heart defects are the most common major congenital abnormalities, the associated mortality has been decreasing due to improvements in their diagnosis and treatment. We assessed the usefulness of 64-multidetector computed tomography in the diagnosis and management of these patients. METHODS This 5-year observational, analytical, retrospective, cohort study included a total of 222 tomographic studies of patients with congenital heart disease. Computed tomography scans were read twice and medical records were reviewed. We assessed the complexity of the disease, patient, and radiological technique, and evaluated the contribution of new data in relation to clinical suspicion and diagnostic change. A confidence interval was set at 95% and a P value of<.05 was used as the cutoff for statistical significance. RESULTS In 35.1% of patients, the treatment procedure was performed after computed tomography without other tests. Additional diagnostic catheterization was performed in 12.5% of patients. There were new findings in 77% of patients (82.9% with complex disease), which prompted a change in patient management in 35.6%. All unexpected reports described new findings. No significant differences were found by age, sex, study period, urgency of the test order, patient complexity, or difficulty of the technique. CONCLUSIONS Use of 64-detector computed tomography yields good diagnostic performance in congenital heart disease, prompts changes in management in more than one-third of patients, and reveals new findings in relation to the presumed diagnosis in 77% of patients.

Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer.

Objectives Pediatric cancer survivors are a steadily growing population; however, chronic anthracycline-induced cardiotoxicity (AIC) is a serious long-term complication leading to considerable morbidity. We aimed to identify new genes and low-frequency variants influencing the susceptibility to AIC for pediatric cancer patients. Patients and methods We studied the association of variants on the Illumina HumanExome BeadChip array in 83 anthracycline-treated pediatric cancer patients. In addition to single-variant association tests, we carried out a gene-based analysis to investigate the combined effects of common and low-frequency variants to chronic AIC. Results Although no single-variant showed an association with chronic AIC that was statistically significant after correction for multiple testing, we identified a novel significant association for G protein-coupled receptor 35 (GPR35) by gene-based testing, a gene with potential roles in cardiac physiology and pathology (P=7.0×10−6), which remained statistically significant after correction for multiple testing (PFDR=0.03). The greatest contribution to this observed association was made by rs12468485, a missense variant (p.Thr253Met, c.758C>T, minor allele frequency=0.04), with the T allele associated with an increased risk of chronic AIC and more severe symptomatic cardiac manifestations at low anthracycline doses. Conclusion Using exome array data, we identified GPR35 as a novel susceptibility gene associated with chronic AIC in pediatric cancer patients.

Persistent embryonic right venous valve giving a cor triatriatum dexter appearance in a cyanotic neonate.

Embryonic right venous valve may persist after birth as a membrane seen inside the right atrium and give a cor triatriatum dexter appearance in echographic imaging. The finding is usually asymptomatic, but may rarely cause cyanosis when flow from the inferior vena cava is redirected into the left atrium and be misdiagnosed with a tricuspid valve anomaly. We report the case of a cyanotic newborn who underwent a successful resection of a cor triatriatum dexter membrane.

A coarctation on the wrong aortic arch side.

A 3-month-old male infant, with diagnosis of a complex, cyanotic, congenital heart disease (double-outlet right ventricle, pulmonary stenosis, and hypoplastic pulmonary arteries, among other defects) and a double aortic arch (Fig. 1, [L, left; LCA, left carotid artery; LSA, left subclavian artery; R, right; RCA, right carotid artery; RSA, right subclavian artery]), had required a shunt from ascending aorta to main pulmonary trunk (Fig. 2A, *), plus a section of the aortic arch distal to right subclavian artery (Fig. 2B, y). During admission, the infant experienced low systemic cardiac output, with arterial pressure gradient between upper and lower extremities, and an echo suspicion of aortic coarctation. A thorax computed tomography scan showed a stenotic area in the native, left aortic arch (Figs. 2A, 2B, arrow), bizarrely located between the left carotid artery and the left subclavian artery. Due to the atypical location of the coarctation, and the complexity and risk of the patient, after agreement with cardiac surgeons we accordingly performed a balloon catheter angioplasty to resolve the coarctation (Fig. 3A), which was effective and uneventful (Fig. 3B). Angio computed tomography scan and 3D reconstructions provide fast, high-resolution images of congenital heart disease, with minimum radiation doses and use of intravenous contrasts. In infants with congenital heart disease, computed tomography scan is better than magnetic resonance imaging, especially in large-vessel anomalies. Findings may be later confirmed in the operation theater or the cath-lab. In our patient with double aortic arch intervention, computed tomography scan provided accurate images of an atypical coarctation, and allowed an individualized approach. Figure 1.

A rhythm by two players: ECG tracing found in conjoined twins.

A 12-lead ECG was obtained soon after the birth of a pair of omphalo-thoracopagus (Figure 1) conjoined twins. Before birth, they had been diagnosed with two separate hearts that shared a wide communication through the independently defined right atria. Other anomalies including a common liver with two gallbladders and two stomachs with common jejunum and ileum beyond the duodenum were also noted on surgical exploration. It had been the parents’ choice to follow the course of pregnancy and attempt surgical separation. As seen in Figure 2, two different QRS complexes of nearly equal rate alternate in lead II, with no compensatory pause, as if two different ECG recordings had been superimposed. Each ventricle produces its own distinct depolarization wave, as expected in anatomically and electrically independent ventricles. Surgical attempts to separate the two twins was unsuccessful, both infants dying in the operating room. Autopsy examination confirmed the shared right atria, with relative heart hypoplasia in one twin (Figure 3).