Kawasaki disease in children younger than 6 months of age: characteristics of a Spanish cohort.

A retrospective study that compared children younger than 6 months versus older children of a Spanish cohort of patients diagnosed with Kawasaki disease between 2011 and 2016 (Kawa-Race study). From the 598 patients recruited, 42 patients were younger than 6 months (7%) and presented more frequently with an incomplete diagnosis of Kawasaki disease (52.4 vs 27.9%, p = 0.001). Cardiac abnormalities detected by echocardiography were more common in younger patients (52.4 vs 30%, p = 0.002). These younger patients presented with a higher proportion of coronary aneurysms as well (19 vs 8.6%, p < 0.001). Shock at diagnosis (9.5 vs 1.9%, p = 0.016) and admission to intensive care units (17.7 vs 4.1%, p = 0.003) were more frequent in patients younger than 6 months. There were no statistically significant differences in relation to infections, non-response to IVIG, or mid- or long-term outcomes.Conclusion: Data of the Spanish cohort are consistent with other American and Asian studies, although Spanish children younger than 6 months had a lower rate of non-response to IVIG and better clinical outcomes. A high index of suspicion should be considered for this population due to a higher risk of coronary abnormalities, presentation of shock, and admission to the intensive care unit. What is Known: •Children below 6 months of age with Kawasaki disease (KD) have different features compared to older. •Younger patients usually have an incomplete form of KD and coronary artery abnormalities. What is New: •Younger than 6 months with KD presented with shock and required admission to PICU more frequently compared to older. •Infections play a similar role in KD despite the age of the patients.

Risk of psychiatric events in women treated with isotretinoin: a self-controlled study with SIDIAP database.

BACKGROUND: Since isotretinoin marketing, reports of psychiatric events have been noted. Howeverto date, a relation between these events and acne or isotretinoin treatment has not been clearly established. Our objective was to analyze the incidence of psychiatric events in women receiving isotretinoin. METHODS: Self-controlled study including women treated with isotretinoin from July 2014 to December 2018. Data source was SIDIAP, a primary health care-based database from Catalonia, Spain. Risk of psychiatric events was analyzed during the isotretinoin exposure and during the previous and posterior periods of non-exposure. RESULTS: We included 4,738 women in the study, 25.3% of them had history psychiatric disorders prior to receiving isotretinoin. During the follow-up, 782 (16.5%) patients were diagnosed with new mental disorders and 925 (19.5%) received new psychotropic drug prescriptions. We found a trend to an increase of new events when the previous non-exposure and the isotretinoin exposure periods were compared, with no significant differences. Incident psychiatric events during isotretinoin exposure was significantly higher in those patients with previous psychiatric history. CONCLUSIONS: We cannot conclude any causality between acne and isotretinoin and the appearance of new psychiatric events. However, we contribute to the evidence with a more robust methodological approach, which minimizes the effect of confounding variables.

Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort.

INTRODUCTION/OBJECTIVES: Asian scores developed to predict unresponsiveness to intravenous immunoglobulin (IVIG) or development of coronary artery aneurysms (CAA) in patients with Kawasaki disease (KD) are not appropriate in Western populations. The purpose of this study is to develop 2 scores, to predict unresponsiveness to IVIG and development of CAA, appropriate for Spanish population. METHOD: Data of 625 Spanish children with KD collected retrospectively (2011-2016) were used to identify variables to develop the 2 scores of interest: unresponsiveness to IVIG and development of CAA. A statistical model selected best variables to create the scores, and scores were validated with data from 98 patients collected prospectively. RESULTS: From 625 patients of the retrospective cohort, final analysis was performed in 439 subjects: 37 developed CAA, and 212 were unresponsive to IVIG. For the score to predict CAA, a cutoff ≥ 8 was considered for high risk, considering a score system with a different weight for each of the eight variables. External validation showed a sensitivity of 22% and a specificity of 75%. The score to predict unresponsiveness to IVIG established a cutoff ≥ 8 for high risk, considering a score system with a different weight for each of the nine variables. External validation showed a sensitivity of 78% and a specificity of 50%. CONCLUSIONS: Two risk scores for KD were developed from Spanish population, to predict development of CAA and unresponsiveness to IVIG; validation in other cohorts could help to implement these tools in the management of KD in other Western populations.

Transesophageal echocardiography during pectus excavatum correction in children: What happens to the heart?

OBJECTIVES: Cardiac compression in pectus excavatum remains difficult to evaluate. We describe the findings with intraoperative transesophageal echocardiography during pectus excavatum correction in pediatric patients. METHODS: We studied right heart changes during surgical correction of pectus excavatum by transesophageal echocardiograph. Four-D echo was associated to assess morphology of the tricuspid annulus. RESULTS: Twenty patients were included, mean age 13.5 (+/- 2.9). Mean preoperative Haller Index was 6.3 (+/- 2.63) and mean Correction Index 47.63% (+/- 12.4%). Preoperative transthoracic echocardiography at rest showed mild right heart compression in 6. Correction was gained by Nuss technique in 19, and Taulinoplasty in one. Initial transesophageal echocardiography showed compression of the right heart and deformation of the tricuspid annulus in all. During the sternal elevation, diameters of right atrium, ventricle and tricuspid annulus significantly improved: mean augmentation of right ventricle was 5.78 mm (+/- 3.56 p < 0.05), right atrium 6.64 mm (+/- 5.55 p < 0.05) and tricuspid annulus 6.02 mm (+/- 3.29 p < 0.05). The morphology of the tricuspid annulus in 4D normalized. CONCLUSIONS: Preoperative transthoracic echocardiography at rest underestimates right chamber compression in pediatric patients with pectus excavatum. Surgical correction improves diameters of the right ventricle, right atrium and tricuspid annulus and normalizes the morphology of the tricuspid annulus (4D). LEVEL OF EVIDENCE: Level III.

Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35-40 kg/m2).

This study evaluated the preclinical effect of obesity on the ventricular remodeling in adolescents with morbid obesity, and determined if subjects labelled as metabolically healthy obesity (MHO) presented better heart index than those with metabolically unhealthy obesity (MUO). Prospective case-control research of 45 adolescents (14-year-old) with morbid obesity and 25 normal weight adolescents' gender- and age-matched with Tanner stage 4-5. Left ventricle (LV) was evaluated by conventional Doppler echocardiography, tissue Doppler imaging and two-dimensional speckle tracking echocardiography. Compared to normal-weight subjects, adolescents with morbid obesity presented a high percentage of pathological LV geometry (87%; p<0.01), and systolic and diastolic dysfunctions only detected by E/A ratio (2.0 vs 1.7, p<0.01), global longitudinal strain (-21.0% vs -16.5%, p<0.01), and early diastolic strain rate (3.2 vs 2.2, p<0.01). A correlation was found between impaired cardiac index and body mass index (BMI), high blood pressure, hyperglycemia, low HDL-cholesterol and hypertriglyceridemia. BMI and HDL-cholesterol were the most significant independent variables. No significant differences were found in structural and functional cardiac index when MHO and MUO subjects were compared (global longitudinal strain: -17.0% vs -16.4%, p0.79). Morbidly obese adolescents have an abnormal LV geometry, closely related to BMI, and systolic and diastolic LV dysfunctions. Adolescents labelled as MHO, despite exhibiting better BMI and insulin-resistance values, present the same pathological heart changes as MUO.

Prevalence and Clinical Characteristics of SARS-CoV-2 Confirmed and Negative Kawasaki Disease Patients During the Pandemic in Spain.

Introduction: COVID-19 has a less severe course in children. In April 2020, some children presented with signs of multisystem inflammation with clinical signs overlapping with Kawasaki disease (KD), most of them requiring admission to the pediatric intensive care unit (PICU). This study aimed to describe the prevalence and clinical characteristics of KD SARS-CoV-2 confirmed and negative patients during the pandemic in Spain. Material and Methods: Medical data of KD patients from January 1, 2018 until May 30, 2020 was collected from the KAWA-RACE study group. We compared the KD cases diagnosed during the COVID-19 period (March 1-May 30, 2020) that were either SARS-CoV-2 confirmed (CoV+) or negative (CoV-) to those from the same period during 2018 and 2019 (PreCoV). Results: One hundred and twenty-four cases were collected. There was a significant increase in cases and PICU admissions in 2020 (P-trend = 0.001 and 0.0004, respectively). CoV+ patients were significantly older (7.5 vs. 2.5 yr) and mainly non-Caucasian (64 vs. 29%), had incomplete KD presentation (73 vs. 32%), lower leucocyte (9.5 vs. 15.5 × 109) and platelet count (174 vs. 423 × 109/L), higher inflammatory markers (C-Reactive Protein 18.5vs. 10.9 mg/dl) and terminal segment of the natriuretic atrial peptide (4,766 vs. 505 pg/ml), less aneurysm development (3.8 vs. 11.1%), and more myocardial dysfunction (30.8 vs. 1.6%) than PreCoV patients. Respiratory symptoms were not increased during the COVID-19 period. Conclusion: The KD CoV+ patients mostly meet pediatric inflammatory multisystem syndrome temporally associated with COVID-19/multisystem inflammatory syndrome in children criteria. Whether this is a novel entity or the same disease on different ends of the spectrum is yet to be clarified.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene. Few prenatal and neonatal cases of LDS have been reported in the literature. We reviewed all cases reported to date with perinatal onset to delineate the clinical manifestations that allow us to prompt diagnosis of this syndrome at an early stage to prevent fatal cardiovascular complications. Furthermore we discuss the multidisciplinary follow up required in these patients.

Evolución ondulante de la miocardiopatía no compactada / Undulating clinical course of noncompaction cardiomyopathy

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Vena cava superior izquierda persistente con agenesia de la vena cava superior derecha / Persistent left superior vena cava with absent right superior vena cava

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Infarto agudo de miocardio en un neonato causado por trombosis coronaria: un gran reto diagnóstico y terapéutico / Acute myocardial infarction in a neonate caused by a coronary thrombosis: A considerable diagnostic and therapeutic challenge

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[Pregnancy and congenital heart disease]. / Embarazo y cardiopatías congénitas.

INTRODUCTION AND OBJECTIVES: Since the creation of the Adult Congenital Heart Disease Units and of the High Obstetric Risk Units, there has been increasing interest in hemodynamic and obstetric outcomes in pregnant woman with congenital heart disease. METHODS: Retrospective descriptive study of 56 women with congenital heart disease aged (mean [range]) 25 (18-40) years, who experienced a total of 84 pregnancies between January 1992 and August 2006. The women were divided into three pregnancy risk groups: A, low-risk; B, moderate-risk, and C, high-risk. RESULTS: The incidence of complications during pregnancy was 1.6%, 15%, and 20% in groups A, B, and C, respectively; the incidence during the puerperium was 2%, 23%, and 50%, respectively; and maternal mortality was 0%, 7.6%, and 25%, respectively. Overall, 69 children were born, and the prematurity rates in the three groups were 11%, 15%, and 100%, respectively. The following risk factors were studied: pulmonary hypertension, cyanosis, arrhythmia, left ventricular outflow tract obstruction, right ventricular dilatation, systemic right ventricle, and anticoagulation therapy. The risk factor most significantly associated with maternal or fetal morbidity or mortality was found to be pulmonary hypertension. CONCLUSIONS: Risk stratification in pregnant women with congenital heart disease provides prognostic information that can help multidisciplinary teams to target care to achieve the best results.

Drepanocitosis. Revisió dels casos controlats en el nostre hospital en els últims 5 anys / Drepanocitosis: revision de los casos controlados en nuestro hospital en los últimos 5 años / Sickle-cell disease: a review of the 5-year experience of a single institution

Fonament. La drepanocitosis és una malaltia emergent a Catalunya, degut a l’augment de la immigració Subsahariana. L’alta prevalença en aquesta població de l’hemoglobonopatia, junt a les múltiples complicacions que se’n deriven fa necessari un control sistemàtic. Objectiu. Revisió dels casos de drepanocitosis controlats en el nostre centre, per a observar el moment del diagnòstic, el seguiment i les complicacions. Mètode. Revisió retrospectiva de les històries clíniques dels pacients afectes de drepanocitosis. S’han recollit dades de filiació, antecedents relatius a la malaltia, complicacions i tractaments. Criteris d’inclusió: Edat inferior a 14 anys, Hb SS, Hb SC i Hb Sbetatalassèmia. Resultats. S’estudien 10 pacients: 5 nens/ 5 nenes. Edat: 3 mesos-13 anys. Origen: 8 Gàmbia i 2 Guinea. Tipus d’hemoglobinopatia: Hb SS en 9 casos i Hb SC en 1 cas. Diagnòstic més precoç als 3 mesos i més tardà als 5 anys. Motiu del diagnòstic: 6 casos per complicacions, 2 casos en el seu país d’origen, 1 cas per estudi familiar, no dades en 1 cas. Complicacions: Ingrés per infeccions pulmonars o bronquials en 7 pacients, crisis vasoclusives en 6 pacients, ITU en 1 pacient, AVC en 1 pacient i sepsis en 1 pacient. Set pacients han requerit transfusions. Mortalitat en 2 pacients. Profilaxis antibiòtica i vacunació en 6 casos. Tractament amb àcid fòlic en 8 nens. Conclusions. La majoria dels nostres pacients s’han diagnosticat arrel d’una complicació. Volem destacar l’alt número d’ingressos per complicacions pulmonars, superiors als ingressos per crisis vasoclusives. Cal ressenyar l’alta incidència de complicacions greus. Considerem la necessitat d’un screening neonatal a la població de risc per a iniciar tractament profilàctic de forma precoç i disminuir la incidència de complicacions (AU)

Fundamento. La drepanocitosis es una enfermedad emergente en Cataluña, debido al aumento de la immigración Subsahariana. La alta prevalencia en esta población de la hemoglobinopatía, junto a las múltiples complicaciones derivadas hace necesario un control sistemático. Objetivo. Revisión de los casos de drepanocitosis controlados en nuestro centro, para observar el momento del diagnóstico, el seguimiento y las complicaciones. Método. Revisión retrospectiva de las historias clínicas de los pacientes afectos de drepanocitosis. Se han recogido datos de filiación, antecedentes relativos a la enfermedad, complicaciones y tratamientos. Criterios de inclusión: Edad inferior a 14 años, Hb SS, Hb SC y Hb Sbetatalasemia. Resultados. Se estudian 10 pacientes: 5 niños/5 niñas. Edad: 3 meses-13 años. Origen: 8 Gambia y 2 Guinea. Tipo de hemoglobinopatía: Hb SS en 9 casos y Hb SC en 1 caso. Diagnóstico más precoz a los 3 meses y más tardío a los 5 años. Motivo del diagnóstico: 6 casos por complicaciones, 2 casos en su país de origen, 1 caso por estudio familiar, no datos en 1 caso. Complicaciones: Ingreso por infecciones pulmonares o bronquiales en 7 pacientes, crisis vasoclusivas en 6 pacientes, ITU en 1 paciente, AVC en 1 paciente y sepsis en 1 paciente. Siete pacientes han precisado transfusiones. Mortalidad en 2 pacientes. Profilaxis antibiótica y vacunación en 6 casos. Tratamiento con ácido fólico en 8 niños. Conclusiones. La mayoría de nuestros pacientes se han diagnosticado a raíz de una complicación. Queremos destacar el alto número de ingresos por complicaciones pulmonares, superiores a los ingresos por crisis vasoclusivas. Hemos tenido una alta incidencia de complicaciones graves. Consideramos necesaria la realización de un screening neonatal en la población de riesgo para poder iniciar tratamiento profilàctico de forma precoz y disminuir la incidencia de complicaciones (AU)

Background. The incidence of sickle cell disease is increasing in Catalonia, due to the increase in the population of subsaharian origin. The high prevalence of sicklecell disease (and its complications) in this population makes necessary a systematic evaluation. Objective. To review the cases of sickle cell disease seen in our institution, and to describe the diagnosis, follow-up and complications of this disease. Method. Retrospective review of the clinical records of the children diagnosed with sickle cell disease. Data obtained included patient demographics, family history of hemoglopbinopathy, complications, and treatment. Inclusion criteria were age less than 14 years, and diagnosis of Hb SS, Hb SC or Hb S-Beta-thalassemia. Results. Ten patients were included in the study. There were 5 boys and 5 girls, and age range was 3-13 years. Country of origin was Gambia in 8 cases, and Guinea in 2 cases. Nine patients had Hb SS disease, and 1 patient had Hb Sc disease. The diagnosis of sickle cell disease was made after a vaso-occlusive complication in 6 cases. In 2 cases, the diagnosis had already been made in the country of origin, in 1 case after a family diagnostic work-up, and in one case the date and reason for the diagnosis were not available. Seven patients required admission for acute chest syndrome, 6 patients developed vaso-occlusive crises, one patient had a urinary tract infection, one patient had a cerebro-vascular accident, and one patient had sepsis. Seven patients have required transfusions. Six patients were given antibiotic prophylaxis and were also immunized, and 8 patients received folic acid supplementation. Two patients died of sickle-cell related complications. Conclusions. Most of our patients were diagnosed following a sickle cell related complication. The number of admissions for pulmonary complications were higher than for vaso-occlusive crises, and we observed a high number of severe complications. There is a need for an adequate newborn screening of the population at risk in order to start early antibiotic prophylaxis and decrease the incidence of complications (AU)