努南综合征
医学
扩张
PTPN11型
心脏病学
内科学
肥厚性心肌病
心肌病
肺动脉狭窄
狭窄
心力衰竭
癌症
结直肠癌
克拉斯
作者
Giulio Calcagni,Anwar Baban,Enrica De Luca,Benedetta Leonardi,Giacomo Pongiglione,María Cristina Digilio
摘要
Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association.
科研通智能强力驱动
Strongly Powered by AbleSci AI