A Case of Noonan Syndrome with the <i>SHOC2</i> Mutation Complicated by Dilation of a Single Left Coronary Artery

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  • Ishikawa Nobuyuki
    Department of Child Health, Faculty of Medicine, University of Tsukuba
  • Horigome Hitoshi
    Department of Child Health, Faculty of Medicine, University of Tsukuba
  • Murakami Takashi
    Department of Child Health, Faculty of Medicine, University of Tsukuba
  • Takahashi-Igari Miho
    Department of Child Health, Faculty of Medicine, University of Tsukuba
  • Nozaki Yoshihiro
    Department of Cardiovascular Surgery, Faculty of Medicine, University of Tsukuba
  • Lin Lisheng
    Department of Cardiovascular Surgery, Faculty of Medicine, University of Tsukuba
  • Shiono Junko
    Department of Cardiovascular Surgery, Faculty of Medicine, University of Tsukuba
  • Hiramatsu Yuji
    Department of Pediatric Cardiology, Ibaraki Children’s Hospital
  • Yanagisawa Hiromi
    Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance, University of Tsukuba

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  • 左単一冠動脈の拡張を伴い，<i>SHOC2</i>遺伝子異常が認められたNoonan症候群の1例

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Abstract

<p>Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphism, short stature, and congenital heart defects. NS is caused by dysregulation of the RAS-MAPK pathway, and multiple gene mutations of this pathway have been identified. Common cardiovascular disorders in NS include pulmonary valve stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Coronary artery abnormalities have also been reported as rare vascular complications. We present the case of a male patient with NS with the SHOC2 mutation. The patient developed progressive dilation of the left coronary artery as well as a ventricular septal defect (VSD) and right ventricular outflow tract stenosis. VSD patch closure was performed at the age of 4 due to progressive aortic regurgitation from prolapse of the non-coronary aortic cusp. Coronary artery dilation was first detected at the age of 11. Gene analysis conducted at the age of 16 identified the SHOC2 mutation. Although 14 cases of NS with coronary artery dilation have been previously reported, this is the first report of NS with the SHOC2 mutation complicated by such a rare coronary arterial abnormality. The clinical characteristics and genetic backgrounds of those cases as well as the mechanism of coronary dilation are discussed.</p>

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