Aims: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. Methods and results:The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. Conclusion: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

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Resumen: Este artículo revisa la fundamentación ética (o de normas o valoraciones morales), problema básico del nivel de reflexión designado habitualmente como "normativo". Se exponen las diferentes actitudes desde las cuales se busca esclarecer el por qué de los fenómenos morales, siguiendo una clasificación basada en la distinción entre empirismo (emparentado con el consecuencialismo) y apriorismo (en algún punto ligado con el deontologismo). Asimismo, se subrayan las insuficiencias y debilidades de ambos planteos, proyectando su utilidad para una posterior tarea de fundamentación en el ámbito de la bioética.Palabras clave: ética, fundamentación, empirismo, apriorismo THE PARADIGMS OF BASES IN CONTEMPORARY ETHICSAbstract: This article reviews the task of ethical reasoning (or of norms or moral valuation), the basic problem of the level of reflection typically labeled as "normative." The article shows different attitudes from which to seek to clarify "the why" of moral phenomenon, following a classification based on the distinction between empiricism (related to consequentialism) and a priorism (at some point linked with deontologism). Also, insufficiencies and weaknesses of both statements are highlighted, projecting its usefulness for a future task of statements of reason in the context of bioethics. Key words: ethics, basis, empiricism, apriorism OS PARADIGMAS DE FUNDAMENTAÇÃO NA ÉTICA CONTEMPORÄNEAResumo: Este artigo revisa a fundamentação ética (ou de normas ou valorações morais), problema básico no nível de reflexão designado habitualmente como "normativo". São expostos as diferentes atitudes a partir das quais se busca esclarecer o porquê dos fenómenos morais, seguindo uma classificação baseada na distinção entre empirismo (parecido com o consequencialismo) e apriorismo (em algum ponto ligado com o deontologismo). Desta maneira, são destacados as limitações e debilidades de ambas as posições, projetando sua utilidade para uma tarefa posterior de fundamentação no âmbito da bioética.

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