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NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol 28 No 1 (2019)

Introdução: A deleção cromossómica 8p23 apresenta um espectro clínico variável que se deve à extensão da deleção ou da região do ponto de quebra do material genético. Caso clínico: Grávida de 23 semanas de gestação referenciada ao Centro de Diagnóstico Pré Natal por bradiarritmia fetal. A ecocardiografia fetal revelou anel pulmonar estreito e foramen oval grande. Parto eutócico às 40 semanas de gestação de um feto do sexo masculino e com peso abaixo do percentil 10. A ecocardiografia pós-natal revelou: defeito perimembranoso do septo ventricular, comunicação interauricular e estenose moderada da válvula pulmonar. Durante as consultas de seguimento verificaram-se características dismórficas, atraso de desenvolvimento e alterações do comportamento. Foram realizados estudos citogenéticos e de citogenética molecular; o cariótipo de ambos os progenitores não revelou alterações. O cariótipo final da criança foi definido como : 46,XY,del(8)(p23.1p23.2)dn. Conclusão: As alterações cardíacas estão relacionadas com a haploinsuficiência do gene GATA4. A deleção desta região crítica está também associada a atraso mental ligeiro, alterações do comportamento e dismorfia facial ligeira, características presentes no espectro clínico do caso apresentado. ABSTRACT Introduction: The features of an 8p23 deletion are likely to be a result of the loss of a number of different genes found in this region. The variable clinical features could be explained by the extent of the deletion or variation in the breakpoints. Case report: A pregnant patient was referred for fetal echocardiography at 23 weeks gestation, because of fetal bradyarrhythmia, which showed a large foramen oval and mild pulmonary stenosis. A fetal male was born at 40 weeks, with a birth weight below the 10th centile. Postnatal echocardiography revealed: perimembranous ventricular septal defect, atrial septal defect and mild pulmonary valvar stenosis. During follow-up, dysmorphic features, development delay and behavioural issues were noticed. Cytogenetic and molecular cytogenetic analysis were performed. Parental chromosomes were normal, so the child’s final karyotype was defined as 46,XY,del(8)(p23.1p23.2)dn. Conclusion: Congenital heart defects are related with haploinsufficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.

Kawasaki disease (KD) is an acute, self-limiting, idiopathic form of vasculitis. The preventive effect of early therapy on coronary artery aneurysms, the hallmark of the disease, is well established. The spectrum of complication includes not only cardiac involvement but also central nervous system lesions. We report a 4-year-old boy with a clinical presentation suggestive of KD treated with intravenous immunoglobulin and acetylsalicylic acid. Clinical manifestations regressed within 24 hours and cardiac anomalies were not seen. Two weeks later, the parents noticed a sudden absence of response to sound stimuli. Investigations confirmed bilateral severe sensorineural hearing loss for which oral steroid therapy was given. This resulted in an improvement only on the right side, with severe hearing loss persisting on the left. Conclusion: Sensorineural hearing loss is an uncommonly reported complication of KD. Pediatricians should be aware of this potential complication to allow for early intervention.

Anomalous pulmonary venous connection is an uncommon congenital anomaly in which all (total form) or some (partial form) pulmonary veins drain into a systemic vein or into the right atrium rather than into the left atrium.The authors present one case of total anomalous pulmonary venous connection and two cases of partial anomalous pulmonary venous connection, one of supracardiac drainage into the brachiocephalic vein, and the other of infracardiac anomalous venous drainage (scimitar syndrome).Through the presentation of these cases, this article aims to review the main pulmonary venous developmental defects, highlighting the role of imaging techniques in the assessment of these anomalies. Resumo: A conexão anómala das veias pulmonares é uma anomalia congénita rara na qual todas as veias pulmonares (forma total) ou algumas (forma parcial) drenam numa veia sistémica ou na aurícula direita, em vez da aurícula esquerda.Os autores apresentam um caso de conexão anómala total das veias pulmonares e dois casos de retorno anómalo parcial das veias pulmonares, uma drenagem supracardíaca ao nivel da veia braquiocefálica e uma infracardíaca (síndrome da cimitarra).Através da apresentação destes casos, este artigo pretende fazer uma revisão dos principais defeitos do desenvolvimento venoso pulmonar e realçar a importância das técnicas de imagem na avaliação destas anomalias. Keywords: Anomalous pulmonary venous connection, Congenital anomaly, Scimitar syndrome, Palavras-chave: Conexão anómala das veias pulmonares, Anomalia congénita, Síndrome de cimitarra

We describe the case of a teenager with a structurally normal heart that presented with torsades de pointes and cardiac arrest. He had a history of epilepsy in childhood, mild cognitive impairment and cognitive visual dysfunction. The baseline electrocardiogram had prominent J waves and a marked early repolarization pattern in all the leads, with normal QT interval. We discuss the differential diagnosis for this interesting case, as well as the patient's management. info:eu-repo/semantics/publishedVersion

INTRODUCTION Pulmonary hypertension (PH) was until recently an obscure pathology which frequently went unidentified as it lacked a precise diagnostic strategy. Recent years have seen advances in the knowledge of the pathogenesis and mechanisms of vascular lesion of PH. This has led to the scientific community's growing interest in this area, an interest manifested in appreciable progress in the pathology's clinical characterisation, diagnostic strategies and the development of effective drugs. All of this together has been fundamental in changing the previously unfavourable prognosis of this disease. This evolution implies the need to rationalise the use of available resources through organisation of healthcare services, defining the role of each level of care, and developing norms for good clinical management practices in keeping with best medical practice guidelines. These twin aspects have attracted the interest of the scientific community, as shown by the wealth of literature, and have led healthcare authorities to introduce regulatory mechanisms. In order to improve clinical practice, the Pulmonary Vascular Disease Study Group (NEDVP) of the Portuguese Society of Internal Medicine (SPMI), the Pulmonary Hypertension Study Group (GEHTP) of the Portuguese Society of Cardiology and the boards of the Portuguese Societies of Pulmonology and Paediatric Cardiology created an interdisciplinary working group. The group's remit was to draft this document, "Guidelines for the management of pulmonary hypertension patients", based on a review of the literature and the authors' clinical expertise. These guidelines aim to present all the relevant evidence on the diagnostic and treatment strategy of PH and the definition of requirements for referral centres. The organisation of care is fundamental for an appropriate and rational use of the available resources and for the better care of the patient.

Background/aim Congenital heart disease (CHD) is the most common congenital disorder in newborns (prevalence ranges from 6 to 13 per 1000 live births). Transversal study of the newborns diagnosed with CHD at Maternidade Julio Dinis between 2012–2013. Methods Patients were identified by searching the hospital’s electronic discharge records of the ICD-9 for each CHD (745.0–747.11). The following data were analysed: gender;gestational age;birth weight;pregnancy and delivery type; need of resuscitation;family history and maternal conditions that increase the risk for CHD; echocardiography reason and source of referral; clinical manifestations; paediatric cardiology agreement on the diagnosis; treatment and follow-up. Results A total of 161 patients were documented, corresponding 24,8% to preterm newborns. The prevalence of echocardiographic findings was 26,8 per 1000 live births. At birth, resuscitation was needed in 20,5% patients. Cardiovascular findings suggestive of CHD were the reason to request echocardiogram in 75,8% cases and prenatal suspicion was responsible for 19,9%. Ventricular septal defect was the most prevalent (53,4%) CHD. Complex heart defects were found in 6,8% patients. A total of 101 patients were referred to paediatric cardiology and the concordance in diagnosis was around 99%. Surgical repair was performed in 5,6% patients. During this 2 years period, mortality related to CHD was 0,67 per 1000 infants (< 1 year age). Conclusion This portuguese CHD study shows a high prevalence of these disorders. Congenital heart defects are common conditions that have significant impact on morbidity, mortality and healthcare costs. A multidisciplinary team able to detect most of them in the neonatal period is crucial to minimise it.