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Timothy syndrome (TS) is a rare multisystem disease has a characterized association of long QT syndrome (LQTS) type-8 with the congenital cardiac and extracardiac malformations (neurological and dysmorphic facial features, syndactyly). It is caused by heterozygous mutations in the CACNA 1C gene, which participates in decoding the calcium channels. In this study, we describe a case of TS, which has systemic phenotypic characteristics associated with a long QT interval on the electrocardiogram.. The LQTS predisposes to a characteristic life-threatening ventricular arrhythmia known as Torsades de pointes or "twisting of the points". In this scenario, the authors describes the main clinical characteristics in a case of TS focusing on improve the ability of early diagnosis and better management of LTQS type-8.

To establish reference values for the systolic-to-diastolic duration ratio (SDR) of the left ventricle (LV) using spectral Doppler, as well as for the SDR' of the interventricular septum (SEP), LV, and right ventricles (RV) using tissue Doppler of the fetal heart.This prospective and cross-sectional study evaluated 374 low-risk singleton pregnancies from 20 to 36 + 6 weeks of gestation. The ventricular filling time (FT) was obtained from LV inflow using spectral Doppler. Tissue Doppler was used to assess the FT of each ventricle by placing the cursor at the atrioventricular junction marked by the mitral and tricuspid valves, respectively. SDR was calculated as the sum of the isovolumic contraction time (ICT) and the ejection time (ET) divided by the sum of the isovolumic relaxation time (IRT) and the ventricular FT. We used regression analysis to obtain the best-fit model polynomial equation for the parameters. The concordance correlation coefficient (CCC) was used to assess intra- and inter-observer reproducibility.SDR and SDR' LV showed a progressive decrease with gestational age (GA); the SDR' RV and SDR' SEP did not show a significant decrease with advancing GA. The SDR LV (r = 0.29, p 0.0001), SDR' RV (r = 0.21, p 0.0001), SDR' LV (r = 0.20, p = 0.0001), and SDR' SEP (r = 0.25, p 0.0001) showed a significant weak positive correlation with fetal heart rate. The inter-observer SDR' SEP measurements demonstrated poor reproducibility (CCC: 0.50), whereas intra-observer SRD LV measurements demonstrated moderate reproducibility (CCC: 0.78).Reference values for SDR SEP, LV, and RV using spectral and tissue Doppler of fetal heart were established between 20 and 36+6 weeks of gestation.

[This corrects the article on p. 148 in vol. 11, PMID: 29922012.].

Made available in DSpace on 2019-09-12T16:53:25Z (GMT). No. of bitstreams: 0 Previous issue date: 2013 This paper reports a rare case of elevated lipoproteinemia(a) that evolved into thrombosis during the neonatal period. During the first days of life, the patient presented with an intracardiac thrombus, pulmonary thromboembolism and a hemorrhagic stroke. Initially, the results of the blood tests performed to screen for thrombophilic diseases were normal for the patient's age. The maternal dyslipidemia and the family's positive history of thromboembolism drew attention to an underlying, inherited, thrombophilic defect. Upon further investigation of the thrombophilia, the increase in lipoprotein(a) levels found in the mother and infant enabled the diagnosis of hyperlipoprotein(a) and the administration of appropriate therapy. [Magioli Bravo-valenzuela, Nathalie Jeanne] Universidade de Taubaté (Unitau), BR-12020130 Taubate, SP, Brazil [Magioli Bravo-valenzuela, Nathalie Jeanne] PEDICOR, BR-12230000 Sao Jose Dos Campos, SP, Brazil

Made available in DSpace on 2019-09-12T16:53:25Z (GMT). No. of bitstreams: 0 Previous issue date: 2013 The study reported here is a rare case of fetal sinus bradycardia that evolved into symptomatic bradycardia after birth, at which time the implantation of a cardiac pacemaker was indicated. Fetal echocardiography was used to diagnose the type of cardiac rhythm that caused the intra-uterine bradycardia, which enabled the initiation of the appropriate therapy approach and avoided an unnecessary interruption of the pregnancy. However, the details of the sinus bradycardia were impossible to determine in utero in this case due to sinus node dysfunction. After birth, the electrocardiogram results drew attention to a potentially unusual cause of sinus bradycardia, and enabled the diagnosis of this rare disease in this infant. [Magioli Bravo-valenzuela, Nathalie Jeanne] Universidade de Taubaté (Unitau), BR-12020130 Taubate, SP, Brazil [Magioli Bravo-valenzuela, Nathalie Jeanne] PEDICOR, BR-12230000 Sao Jose Dos Campos, SP, Brazil

Made available in DSpace on 2019-09-12T16:25:42Z (GMT). No. of bitstreams: 0 Previous issue date: 2011 OBJETIVO: Revisar, de forma sistemática, as curvas de crescimento de crianças e adolescentes com síndrome de Down de diferentes países publicadas entre 1978 e 2008. FONTES DOS DADOS: Revisão sistemática baseada em dados eletrônicos (Medline, Lilacs e algumas referências de artigos citados), sendo selecionados títulos científicos publicados no intervalo de 30 anos. Analisadas as principais características dessas curvas de crescimento nos diferentes países. Excluídos estudos exclusivos de perímetro cefálico e os que não incluíam a construção de curvas de peso e/ ou estatura na síndrome de Down. As variáveis de peso e estatura/comprimento foram expressas em kg, centímetros e/ou escores Z. SÍNTESE DOS DADOS: Baixo peso e comprimento ao nascimento, baixa estatura final, prevalência de sobrepeso/ obesidade e reduzida velocidade de crescimento são caracte-rísticas importantes do crescimento na síndrome de Down. Cardiopatias congênitas e outras comorbidades podem ocorrer na síndrome, contribuindo para comprometer mais o crescimento deficiente. Nos estudos revisados, a média de estatura final variou entre 141,9 e 155cm para o gênero feminino e entre 150 e 165cm para o masculino (desvio padrão: -2,0 a -4,0). CONCLUSÕES: Reduzida velocidade de crescimento esta-tural, baixa estatura final e crescimento puberal total mais curto e precoce foram observados. Após o final da infância, ocorreu prevalência de sobrepeso/obesidade. É importante o uso de curvas específicas para a síndrome de Down para o reconhecimento precoce e adequado de doenças adicionais e/ou de sobrepeso/obesidade incipiente. OBJECTIVE: To systematic review studies of growth charts in children and teenagers with Down syndrome from differ-ent countries published between 1978 and 2008. DATA SOURCES: Electronic databases (Medline, Lilacs) and references of the selected citations of papers published be-tween 1972-2008. The growth charts of Down syndrome in different countries were analyzed. Studies related only to head circumference charts and Down syndrome growth studies without curves were excluded. In order to describe the variables of weight and length, kilograms, centimeters and Z scores were used. DATA SYNTHESIS: Lower birth length and weight, final short stature, higher prevalence of overweight/obesity in late childhood/adolescence (about 30%) and a reduced growth velocity are cardinal features of growth in Down syndrome. Congenital heart defects and other major dis-eases frequently occur and are possible causes of growth delay. Individual mean final height varied between 141.9 to 155cm for girls and 150 to165cm for boys (-2.0 to -4.0 standard deviations). CONCLUSIONS: A delay in growth velocity, a shorter fi-nal stature and a shorter and earlier pubertal growth were observed in this review. There was a higher prevalence of overweight/obesity after late childhood. The use of specific growth charts can help the early recognition of additional diseases and/or incipient obesity/overweight in patients with Down syndrome. [Bravo-Valenzuela, Nathalie Jeanne M.] Universidade de Taubaté, Brazil Passarelli, Maria Lucia B.; Coates, Maria Veronica] Faculdade de Ciências Médicas da Santa Casa de São Paulo, Brazil

To evaluate the impact of congenital heart diseases in growth of children with Down syndrome (DS) and the weight-height recovery after surgical correction.Retrospective study of the DS patients between 1984 and 2007. Excluding the mosaics and/or patients with associated morbidities (n=165). Calculated Z scores for weight (Zwb) and length (Zlb) at birth. Those patients submitted to surgical correction (n= 60) these scores (Zw/Zh) were evaluated before surgery and in subsequent periods to five years. Malnutrition was defined as weight/height Z-score2.5. Used Chi-square test to verify the relation between weight/length and age at the time of surgery and Student T test to evaluate the postoperative (PO) time of recovery (P0.05).Means Zwb (n = 162) and Zlb (n = 156) were -0.95 ± 1.27 and -1.348 ± 1.02. From the total data (n = 165), 65.5% (n = 108) presented heart disease. Those submitted to cardiac surgery (n = 60), Zw was below -2.5 in 55% (n = 33) and Zh in 60% (n = 36). After six months PO, 67.4% achieved Zw2.5. In one year, 85.7% achieved Zh2.5. Dividing this group by age in tertiles at time of surgery no difference was found.We concluded that malnutrition common in children with DS since birth. DS children with congenital heart and surgical indication were smaller and lighter than those without or with mild disease. PO recovery occurred in 6 months for weight and one year for height, with no difference in the age at the time of surgery.

Objetivo: Relatar o caso de um recém-nascido com anel vascular completo causado por artéria subclávia esquerda retroesofágica em arco aórtico à direita, associado a um divertículo de Kommerell. Relato de Caso: Paciente do gênero feminino, prematuro (36 semanas e 3 dias), baixo peso (1670g), nasceu de parto via cesária e com Apgar 7/8. Ao exame físico notava-se dispneia, cianose, estridor inspiratório e sopro sistólico (2/6) em borda esternal esquerda alta. A paciente foi levada para unidade de terapia intensiva neonatal com melhora imediata do padrão respiratório e da cianose após intubação orotraqueal. A radiografia de tórax demonstrou alargamento do mediastino e arco aórtico à direita. O ecocardiograma transtorácico evidenciou: forame oval pérvio, arco aórtico à direita e tortuoso, dilatação da aorta ascendente, canal arterial pérvio grande, shunt esquerda-direita pelo septo interatrial e canal arterial e sinais de obstrução ao fluxo da artéria pulmonar direita por provável compressão vascular. A angiotomografia confirmou o anel vascular e esclareceu sua anatomia: arco aórtico à direita com artéria subclávia esquerda retroesofágica originando-se de um divertículo (Kommerell) associada à um canal arterial patente à esquerda. A artéria subclávia esquerda anômala ocasionava compressão extrínseca esofagotraqueal, do fluxo da artéria pulmonar direita e do brônquio fonte à direita. À esquerda, o grande canal arterial patente completava o anel vascular, o que ocasionou sintomas precoces. Conclusões: O anel vascular é uma malformação congênita que deve ser suspeitada em todos os pacientes com anomalias do arco aórtico que apresentam sintomas respiratórios (dispneia/estridor inspiratório e/ou sibilância crônica).