Pulmonary atresia with ventricular septal defect

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).

患者の徴候・症状を入力

症例報告を絞り込む

合計: 46 （症例報告）

（表示件数）

対応する徴候・症状遺伝子変異キーワード（MeSH）

順位（類似度）	PMID (PMCID)
1 (40.2%)	9244820	[A rare combination of partial trisomy 9 with pulmonary atresia]. Nekarda T, Kececioglu D, Kehl HG, Gehrmann J, Miny P, Vogt J. Klin Padiatr. 1997;209(3):127-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭目立つ鼻


		トリソミーヒトヒト4番染色体ヒト9番染色体女心エコー心室中隔欠損症心電図検査成人新生児染色体異常男
2 (17.5%)	8572781	Complete repair of PA-VSD with diminutive or discontinuous pulmonary arteries by transverse thoracosternotomy. Moritz A, Marx M, Wollenek G, Domanig E, Wolner E. Ann Thorac Surg. 1996;61(2):646-50. [ 抄録を表示 ] [ 抄録を非表示 ]
		呼吸不全瘢痕


		ヒト再手術女子供子供（未就学）幼児心室中隔欠損症成人生存率病的狭窄血行動態誘導心停止開胸術
3 (4.0%)	30764888	Utilisation of a three-dimensional printed model for the management of coronary-pulmonary artery fistula from left main coronary artery. Misra A, Walters HL, Kobayashi D. Cardiol Young. 2019;29(3):431-434. [ 抄録を表示 ] [ 抄録を非表示 ]
		Coronary-pulmonary artery fistula


		Printing, Three-Dimensional ヒト冠血管動脈動脈瘻女新生児血管外科手術手技
3 (4.0%)	29898907	Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. Sondhi S, Negi PC, Sharma R, Mehta A. BMJ Case Rep. 2018;2018:. [ 抄録を表示 ] [ 抄録を非表示 ]
		心室中隔欠損


		アフタケアヒト大動脈肺動脈中隔欠損大血管転位症女希少疾患心エコー心室中隔欠損症心電図検査
3 (4.0%)	29111286	Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. Markovic LE, Scansen BA, Potter BM. J Vet Cardiol. 2017;19(6):514-522. [ 抄録を表示 ] [ 抄録を非表示 ]
		心室中隔欠損


		CT血管造影ネコネコ疾患動物女心臓中隔欠損男総動脈幹遺残症鑑別診断
3 (4.0%)	29049668	One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. Ide Y, Murata M, Ito H, Sakamoto K. Interact Cardiovasc Thorac Surg. 2018;26(2):343-345. [ 抄録を表示 ] [ 抄録を非表示 ]
		Aortopulmonary collateral arteries


		ヒト三次元イメージング側副血行路女幼児心エコー心臓中隔欠損時間因子男経過観察
3 (4.0%)	28898455	Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. Alkhushi N, Al-Radi OO, Ajlan A, Abdelmohsen G, Attia W. Echocardiography. 2017;34(10):1536-1539. [ 抄録を表示 ] [ 抄録を非表示 ]
		心室中隔欠損


		ヒト側副血行路冠血管冠血管異常女心エコー心臓中隔欠損新生児
3 (4.0%)	28496023	Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. Nagatomo Y, Muneuchi J, Watanabe M, Joo K, Ochiai Y. Int Heart J. 2017;58(3):463-465. [ 抄録を表示 ] [ 抄録を非表示 ]
		Coronary-pulmonary artery fistula


		ヒト冠血管動脈動脈瘻心臓中隔欠損新生児男
3 (4.0%)	28116756	Branch pulmonary artery peel operation in a patient without a native intrapericardial pulmonary artery. Kim H, Sung SC, Choi KH, Lee HD, Ban GH, Kim G, Kim HY. J Card Surg. 2017;32(2):145-147. [ 抄録を表示 ] [ 抄録を非表示 ]
		動脈瘤


		X線コンピュータ断層撮影ヒト女子供（未就学）心室中隔欠損症経過観察肺循環
3 (4.0%)	27733998 (5059124)	Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption. Mun DN, Park CS, Kim YH, Goo HW. Korean J Thorac Cardiovasc Surg. 2016;49(5):374-378. [ 抄録を表示 ] [ 抄録を非表示 ]
		心室中隔欠損

徴候・症状リスト（Orphanetデータベースから取得）

合計: 0

HPO ID	徴候・症状	頻度

徴候・症状リスト（症例報告から取得）

合計: 11

HPO ID	徴候・症状	症例報告数
HP:0031834	Aortopulmonary collateral arteries	10
HP:0000822	高血圧	2
HP:0011641	冠動脈瘻	2
HP:0025516	Coronary-pulmonary artery fistula	2
HP:0001635	うっ血性心不全	1
HP:0001643	動脈管開存症	1
HP:0001650	大動脈弁狭窄	1
HP:0001659	大動脈逆流	1
HP:0001945	発熱	1
HP:0011604	大動脈肺動脈窓	1
HP:0100632	肺分画症	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）