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Doença cardíaca na distrofia muscular de Duchenne : avaliação e seguimento
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A Distrofia Muscular de Duchenne (DMD) exibe o fenótipo mais grave das distrofinopatias iniciando-se precocemente na idade pediátrica. A sua história natural culminava em falência respiratória e morte no final da segunda década de vida, mas o desenvolvimento de novas terapêuticas e a introdução de suporte ventilatório veio aumentar a esperança média de vida. Isto trouxe relevância a outras complicações, nomeadamente cardíacas, que se têm revelado como causa significativa de morbimortalidade, implicando um acompanhamento próximo. Este trabalho teve como objetivo primário a análise do acompanhamento por cardiologia pediátrica dos doentes com DMD seguidos na Unidade de Neuropediatria do Centro Hospitalar Universitário Lisboa Norte – Hospital de Santa Maria (CHULN-HSM). Realizou-se um estudo transversal com revisão do processo clínico de 19 doentes. Eram todos do sexo masculino com idades entre os 3 e os 20 anos (média = 13,9 anos). Identificou-se que nenhum doente foi referenciado para a cardiologia pediátrica no momento do diagnóstico, uma recomendação das guidelines internacionais, e 21,1% (n=4) dos doentes, com idades entre os 3 e os 15 anos, continuavam sem referenciação. Dos doentes com seguimento em cardiologia pediátrica, 81,8% (n=9) teve uma monitorização com eletrocardiograma e ecocardiograma transtorácico, inferior às recomendações atuais, e 55% (n=6) dos doentes não estavam medicados com um inibidor da enzima de conversão da angiotensina (IECA) apesar de ser recomendado a sua iniciação até aos 10 anos. Concluiu-se que, devido à atualização das guidelines, a prática clínica no CHULNHSM não corresponde ao que é recomendado. É necessário um esforço conjunto e multidisciplinar para melhorar os cuidados prestados a estes doentes e consequentemente melhorar a sua qualidade de vida e prognóstico quanto às repercussões cardíacas. Neste âmbito é proposto um protocolo institucional de seguimento cardíaco destes doentes.
Duchenne Muscular Dystrophy (DMD) exhibits the most severe phenotype of dystrophinopathies starting early in pediatric age. Its’ natural history culminated in respiratory failure and death at the end of the second decade of life, but the development of new therapies and the introduction of ventilatory support increased their average life expectancy. This highlighted other complications, notably cardiac complications, which have shown to be a significant cause of morbidity and mortality, requiring a close follow-up. The primary objective of this study was to analyse the pediatric cardiology follow-up of patients with DMD followed at the Neuropediatric Unit of Centro Hospitalar Universitário Lisboa Norte – Hospital de Santa Maria (CHULN-HSM). A cross-sectional study was carried out and the clinical files of nineteen patients were reviewed. The analysed patients were all male, aged between 3 and 20 years old (mean = 13.9 years old). It was identified that no patient was referred to pediatric cardiology at the time of diagnosis, a recommendation in international guidelines. 21.1% (n=4) of patients, aged between 3 and 15 years old, remained without referral. Of the patients with follow-up in pediatric cardiology, 81.8% (n=9) had screening with electrocardiogram and transthoracic echocardiogram below what is expected in current recommendations, and 55% (n=6) of the patients were not medicated with an angiotensin converting enzyme (ACE) inhibitor, although its’ initiation is currently recommended by the age of 10. It was concluded that due to the recent guideline updates, the current clinical practice at CHULN-HSM does not fully meet what is recommended. A joint and multidisciplinary effort is required to improve the care provided to these patients and thus, improve their quality of life and prognosis regarding cardiac repercussions. In this context, an institutional protocol for the cardiac follow-up of these patients is proposed.
Duchenne Muscular Dystrophy (DMD) exhibits the most severe phenotype of dystrophinopathies starting early in pediatric age. Its’ natural history culminated in respiratory failure and death at the end of the second decade of life, but the development of new therapies and the introduction of ventilatory support increased their average life expectancy. This highlighted other complications, notably cardiac complications, which have shown to be a significant cause of morbidity and mortality, requiring a close follow-up. The primary objective of this study was to analyse the pediatric cardiology follow-up of patients with DMD followed at the Neuropediatric Unit of Centro Hospitalar Universitário Lisboa Norte – Hospital de Santa Maria (CHULN-HSM). A cross-sectional study was carried out and the clinical files of nineteen patients were reviewed. The analysed patients were all male, aged between 3 and 20 years old (mean = 13.9 years old). It was identified that no patient was referred to pediatric cardiology at the time of diagnosis, a recommendation in international guidelines. 21.1% (n=4) of patients, aged between 3 and 15 years old, remained without referral. Of the patients with follow-up in pediatric cardiology, 81.8% (n=9) had screening with electrocardiogram and transthoracic echocardiogram below what is expected in current recommendations, and 55% (n=6) of the patients were not medicated with an angiotensin converting enzyme (ACE) inhibitor, although its’ initiation is currently recommended by the age of 10. It was concluded that due to the recent guideline updates, the current clinical practice at CHULN-HSM does not fully meet what is recommended. A joint and multidisciplinary effort is required to improve the care provided to these patients and thus, improve their quality of life and prognosis regarding cardiac repercussions. In this context, an institutional protocol for the cardiac follow-up of these patients is proposed.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2022
Palavras-chave
Distrofia muscular de Duchenne Distrofinopatias Doenças neuromusculares Miocardiopatia dilatada Doença cardíaca Pediatria