講演情報
[P13-3]先天性心疾患とRNF213バリアントの両方を有する、重症肺動脈性肺高血圧症の一例
○永井 礼子1, 辻野 一三2, 八鍬 聡3, 赤川 浩之4, 辻岡 孝郎1, 谷口 宏太1, 佐々木 理1, 泉 岳1, 山澤 弘州1, 武田 充人1 (1.北海道大学病院 小児科, 2.北海道大学病院 呼吸器内科, 3.帯広厚生病院 小児科, 4.東京女子医科大学 統合医科学研究所)
【Case presentation】An adult patient previously presented with asymptomatic left axis deviation and right bundle branch block at age 7, which was identified on an electrocardiogram at the compulsory regular medical check-ups. He was diagnosed with intermediate atrioventricular septal defect, spontaneously closed ventricular septal defect, and pulmonary arterial hypertension (PAH). The patient promptly underwent intracardiac repair, but severe PAH remained after the surgery. At the age of 22, he lost consciousness after exercise. After cardiopulmonary resuscitation and therapeutic hypothermia, he showed no neurological sequelae. Subsequent chest contrast computed tomography and cardiac catheterization revealed compression of the left main coronary trunk (LMT) by a markedly enlarged pulmonary artery and severe PAH. Stenting of the LMT was performed. In addition, whole-exome sequencing was performed. Although no pathogenic variants were found in genes responsible for PAH, RNF213 (NM_001256071.3) c.14429 G＞A p.Arg4810Lys was identified. Other abnormal vascular lesions, including Moyamoya disease, were not detected.【Discussion】RNF213 p.Arg4810Lys variant detected in this patient is known as a risk allele for PAH, and a poor prognosis was reported in carriers of the variant with idiopathic PAH. The significance of this variant in patients with congenital heart disease-associated PAH is unknown but should be investigated in the future.