Sílvia Álvares

Recomendações para a abordagem clínica do doente com hipertensão pulmonar

Resumen pt: A Hipertensao Pulmonar (HP) era, ate ha bem pouco tempo, uma entidade obscura, frequentemente nao identificada, porque omissa nos processos comuns de dia...

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

Anomalous pulmonary venous connection: An underestimated entity

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.

Prevention of cardiovascular diseases starts in childhood

Atherosclerotic cardiovascular disease is still the major cause of death worldwide. The understanding of the development of atherosclerosis is essential to define prevention strategies. Autopsy and epidemiological studies have shown that this process starts early in childhood. Also the Bogalusa Heart Study and the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) confirmed the presence of atherosclerotic plaques in adolescents and an association with risk factors namely increased body mass index(BMI), blood pressure, LDL-Cholesterol(C), low level of HDL-Cholesterol, diabetes mellitus and cigarette smoking. Non-invasive measures of atherosclerosis in pediatric population (carotid-intima-medial thickness and arterial distensibility) reached similar conclusions. These results appoint to the need of prevention strategies starting in childhood. There is growing evidence that health status and well-being are influenced by several aspects, namely genetics factors (30%), health care (10%), social and environmental factors (20%), and individual behaviours (40%). This means that the development of cardiovascular disease has its origins in families, and that approaches to prevention should address the developing child and adolescent and their family environment, namely health life styles. Interventions in paediatric age, especially in children with identifiable risk factors (e.g., obesity, hypertension, diabetes mellitus, Kawasaki disease) are important in promoting cardiovascular health. Paediatric cardiologists, paediatricians and family physicians should be aware of their responsibility in cardiovascular prevention and play an active role in interventions to reduce risk factors fostering behaviour changes in an integrated perspective. Risk factors for atherosclerotic disease include dietary habits, physical activity, blood pressure, smoking/tobacco exposure, lipid and lipoprotein levels. Recently, other factors like sleep habits, stress management or depression have emerged as conditions associated with accelerated atherosclerosis. We also know that adult behaviour is conditioned by habits acquired during childhood and that use of medication will not fully eliminate cardiovascular risk, thus interventions in paediatric age are an important issue in the promotion of health and well-being. Strategies for a better health status in adulthood include general measures to achieve health life styles, and identification and management of the child at risk for early atherosclerosis. Screening for cardiovascular risk is recommended during routine health supervision, concerning: 1. family history, 2. diet, 3. physical activity, 4. leisure time TV/video/ computer use, 5. tobacco exposure. Blood pressure (BP) should be measured in every visit in children older than 3 years; younger children need a regular BP assessment if there is a positive history of neonatal complications, congenital heart disease, urinary/ renal abnormality, solid-organ transplant, malignancy, medications, or condition known to raise BP or increase intracranial pressure. Promotion of breast feeding and a diet low in saturated fat starting at age 1 year is recommended. Advocate a diet rich in fruits, vegetables, whole grains, low-fat/fat-free milk and milk products; lower in sugar and salt; with a total fat 30% of daily kcal/EER1, saturated fat 8-10% of daily kcal/EER,

Ulcerative infantile hemangioma: is there an alternative to propranolol?

Introducao: Os hemangiomas infantis (HI) afetam cerca de 5% das criancas caucasianas, sendo a ulceracao a sua principal complicacao. Nos ultimos anos, os beta-bloqueadores sistemicos ou topicos surgiram como primeira linha no tratamento dos HI, sendo ainda controverso o uso do timolol topico nos HI complicados. Caso clinico: Lactente de seis meses orientado para a consulta de Pediatria por lesao eritematosa ulcerada, dolorosa, localizada a nivel da regiao lombar. A ecografia de partes moles confirmou o diagnostico de tumefacao hemangiomatosa (31x19x20mm) com extensao aos grupos musculares. Iniciado tratamento com timolol topico 0.5% - gotas oftalmicas e apos tres meses de tratamento foi verificada cicatrizacao da regiao ulcerada do hemangioma, cujas dimensoes permaneceram estaveis. Discussao/Conclusoes: Os autores pretendem realcar o potencial uso de timolol nos HI ulcerados, como alternativa aos agentes sistemicos. No caso presente mostrou ser eficaz, nao se tendo registado efeitos adversos.

A good excuse for skipping the test: electrical storm in a teenager

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 patients management.

PO-0502 Congenital Heart Disease At Maternidade JÚlio Dinis 2012–2013

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 Júlio 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.