Calcagni Giulio, Adorisio Rachele, Martinelli Simone, Grutter Giorgia, Baban Anwar, Versacci Paolo, Digilio Maria Cristina, Drago Fabrizio, Gelb Bruce D, Tartaglia Marco, Marino Bruno
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy.
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy.
Heart Fail Clin. 2018 Apr;14(2):225-235. doi: 10.1016/j.hfc.2017.12.005.
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy.
RAS病是一组异质性的遗传综合征，其特征是调节细胞过程（包括增殖、分化、存活、迁移和代谢）的基因突变。除先天性心脏缺陷外，肥厚型心肌病是受RAS病影响患者中最常见的心血管缺陷。在患有早发性、严重肥厚型心肌病并伴有心力衰竭的特定RAS病患者亚组中，已描述了更差的预后（就手术风险和/或死亡率而言）。最近，一种新型的雷帕霉素靶蛋白抑制剂短期疗法已被用于预防这些患有严重肥厚型心肌病患者的心力衰竭。
