Primary Cardiomyopathies in Children: Research Directions & Strategies

描述（由申请人提供）： 心肌病是一种严重的心肌疾病。近40%的心肌病儿童接受心脏移植或在诊断后的前2年内死亡。在过去的10年里，接受心脏移植的心肌病儿童的比例没有下降，心肌病仍然是一岁以上儿童移植的主要原因。来自NHLBI资助的儿科心肌病登记处（PCMR）的研究表明，心肌病的原因在极少数儿童中确定，但大多数儿童可能存在遗传原因。小儿心肌病的发病率约为每100，000名儿童中有1名。这与淋巴瘤、肾母细胞瘤和神经母细胞瘤等儿童癌症的发病率相当。然而，发表的研究和科学会议集中在小儿心肌病是远远少于这些其他条件。 拟议的科学研讨会，“儿童特发性和原发性心肌病”的目的是审查心肌病遗传和临床研究的现状/知识，以确定应启动和开发哪些新的分子研究，遗传诊断测试或治疗研究，以改善不明原因儿童心肌病的检测和治疗。 本次会议旨在汇集一个多学科的科学家小组，包括分子生物学家，遗传学家，流行病学家和临床医生，以分享最新的研究，预防，病因，诊断和治疗PCM，并塑造未来的研究方向。预计这种知识交流将确定今后的研究方向和新的方法和技术，从而更好地了解这一疾病，改进治疗和预防战略。

DESCRIPTION (provided by applicant): Cardiomyopathy is a serious disease of the heart muscle. Nearly 40 percent of children with cardiomyopathy receive a heart transplant or die within the first 2 years after diagnosis. The percentage of children with cardiomyopathy who received a heart transplant has not declined over the past 10 years and cardiomyopathy remains the leading cause of transplantation for children over one year of age. Studies from the NHLBI-funded Pediatric Cardiomyopathy Registry (PCMR) have shown that the cause of cardiomyopathy is established in very few children yet genetic causes are likely to be present in most. The incidence of pediatric cardiomyopathy is approximately 1 per 100,000 children. This is comparable to the incidence of such childhood cancers such as lymphoma, Wilms' tumor, and neuroblastoma. However, the published research and scientific conferences focused on pediatric cardiomyopathy is much less than for these other conditions. The purpose of the proposed scientific workshop, "Idiopathic and Primary Cardiomyopathy in Children, will be to review the current state/knowledge of genetic and clinical research on cardiomyopathy to determine what new molecular studies, genetic diagnostic tests or therapeutic studies should be initiated and developed to improve detection and treatment in cases of cardiomyopathy in children without a known cause. This meeting is designed to bring together a multidisciplinary group of scientists, including molecular biologists, geneticists, epidemiologists and clinicians in order to share the most up to date research on the prevention, cause, diagnosis, and treatment of PCM and shape the direction of future research on the disease. It is anticipated that this exchange of knowledge will identify future research directions and new approaches and technologies that will lead to a better understanding of this disease and improved treatment and prevention strategies.