547 Case Table 1 Patient Profi les Chromosomal Gestational Body weight Prenatal Cardiovascular Sex diagnosis age (weeks) at birth diagnosis anomalies
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1 PEDIATRIC CARDIOLOGY and CARDIAC SURGERY VOL. 4 NO. 4 ( ) Four Cases of Open-heart Surgery in Infants with Trisomy 13 or Trisomy 18 Emiko Suzuki, 1) Yoshihiro Oshima, 1) Yoshio Doi, 1) Shingo Ohtaka, 1) Ikuo Hashimoto, ) Fukiko Ichida, ) Toshio Miyawaki, ) and Takuro Misaki 1) 1) First Department of Surgery, ) Department of Pediatrics, Toyama University School of Medicine, Toyama, Japan Because surgical repair of congenital heart lesions in children with trisomy 13 or 18 has been outside of surgical indication, the effectiveness of cardiac surgery has not been clarified. We describe 4 cases of open-heart surgery in infants with these syndromes, one with trisomy 13 and three with trisomy 18. Two survivors are at home. Another survivor who underwent palliative open-heart surgery is in preparation for at-home nursing. Surgical intervention prolonged the lives and improved the clinical symptoms of these patients. As for the infant who died in hospital, the family could share quality time with her after surgery despite her short lifespan. We therefore postulate that intracardiac repair as well as palliative surgery for infants with trisomy 13 or 18 helps to improve the quality of life for both the patient and the family QOL Graham QOL Table
2 547 Case Table 1 Patient Profi les Chromosomal Gestational Body weight Prenatal Cardiovascular Sex diagnosis age (weeks) at birth diagnosis anomalies Other fi ndings Cleft lip and palate, 1 Trisomy 13 M 39,545 g None VSD, PDA Polydactylia MA, Restrictive ASD, Anal atresia, Trisomy 18 F 39,044 g None CoA, Arch hypoplasia, Obstructive apnea PDA, SAS 3 Trisomy 18 F 41,430 g None VSD, ASD, PDA Upper airway obstruction Syndactyly, Multiple VSDs, 4 Trisomy 18 F 4,116 g At 34 weeks Bronchomalacia, Valv. AS (bicuspid valve) Obstructive apnea VSD: ventricular septal defect, ASD: atrial septal defect, PDA: patent ductus arteriosus, MA: mitral atresia, SAS: subaortic stenosis, CoA: coarctation of the aorta, Valv. AS: valvular aortic stenosis Table Outcome of patients with trisomy 13 or trisomy 18 who underwent open-heart surgery Case Palliative surgery (age) Open-heart corrective surgery (age) Results 1 VSD closure, Gastrostomy for GER, PDA ligation (3 mo) alive at home 1) Bilateral PAB (86 d) Alive, Tracheostomy, ) PA debanding, on ventilator in hospital ASD enlargement (8 mo) 3 PAB, PDA clipping (6 d) VSD closure, VSD closure, Alive at home, ASD closure (8 mo) with nasal airway 4 PAB (1 mo) Aortic valvotomy, Died at 8 mo PA anterior relocation (4 mo) d: days of age, mo: months of age, PAB: pulmonary artery banding, PA: pulmonary artery, GER: gastroesophageal reflux Table ,545g neonatal intensive care unit NICU 13 ventricular septal defect VSD patent ductus arteriosus PDA 1 X 55 VSD 6mm Pp/ Ps = 0.38Qp/Qs = 1.59 Rp =.99U m kg VSD 1 gastroesophageal reflux GER kg
3 548 Table 3 Overall patients with trisomy 13 or trisomy 18 from November 000 to March 004 Chromosomal diagnosis Cardiovascular surgery Yes No Total Trisomy CHD ( ) 4 Trisomy CHD (+) Total 4 6 CHD: congenital heart disease ,044g NICU coarctation of the aorta CoA PDA mitral atresia MAatrial septal defect ASD subaortic stenosis SAS 18 Norwood PDA E 1 PGE 1 ASD balloon atrial septostomy BAS SpO kg pulmonary artery banding PAB ASD SpO 5 30 SpO SpO kg ASD SpO kg 53 SAS 1.0m/ 0.5m/ 0.55m/ Eisenmenger ,430g NICU 6 18 VSD ASD PDA PDAindomethacin
4 NICU 7.5mm VSD ASD PDA 6 1.7kg 3 PAB PDA clipping 5 4m/ 8.8kgVSD ASD VSD outlet extension kg 9 4.3kg echo free space ,116g NICU large VSD 9mm CoA 5 7 mm VSDvalvular aortic stenosis valv. AS 1 1.8kg PAB 3 CT 4.8kg VSD VSD raphe 1 mm Hegar 7 valv. AS valv. AS 4.kg 8 valv. AS
5 Wyllie Embleton Carter Table 4 5 Graham 16 Baty 14 Wyllie Embleton 3 4 Rasmussen 13 18populationbased analysis VSD PDA CoA 1 PGE 1 Fontan 18 hypoplastic left heart syndrome HLHS medical decision making 0 1 C
6 551 Table 4 Reported cases of cardiovascular surgery in infants with trisomy 13 or trisomy 18 in Japan Author Year of Chromosomal Open-heart corrective CHD Palliative surgery (age) report diagnosis surgery (age) Results Kinoshita, CoA, VSD, PDA ligation, repair of Died of infective endocarditis 1990 Trisomy 18 VSD closure (1 d) et al 8) PDA aortic coarctation (8 d) at 116 d Nakamura et al 9) 199 Trisomy 18 VSD, PDA ICR (unknown) Alive Teraguchi VSD, ASD, 1998 Trisomy 18 et al 10) PDA PDA ligation (17 d) Died of heart failure at 111 d PDA ligation, repair of Teraguchi CoA, VSD, Died of hepatoblastoma et al 10) 1998 Trisomy 18 aortic coarctation, VSD closure (6 mo) PDA at 563 d PAB (10 d) Teraguchi et al 10) 1998 Trisomy 18 VSD, PDA PDA ligation, PAB (0 d) VSD closure (6 mo) Alive Ichino et al 11) 004 Trisomy 18 VSD, PDA PAB, PDA ligation (0 d) Unknown 4 cases of PAB for VSD, Kanetaka VSD, PDA ligation, Alive, at home, 1 in hospital, 005 Trisomy 18 et al 1) and/or PDA repair of aortic coarctation, and 1 preparing for discharge and/or CoA respectively ICR: intracardiac repair (used for cases whose details are not mentioned) Table 5 Reported cases of cardiovascular surgery in infants with trisomy 13 or trisomy 18 abroad Author Year of Chromosomal Open-heart corrective CHD Palliative surgery (age) report diagnosis surgery (age) Results Van Dyke DC Died of irreversible congestive 1990 Trisomy 18 VSD, PS ICR ( y) et al 13) heart failure post-surgery Alive for more than 5 years after Van Dyke DC et al 13) 1990 Trisomy 18 VSD, PDA ICR ( y) surgery, attending school, able to stand with support and to feed self PDA ligation, repair of Baty BJ CoA, DORV, et al 14) 1994 Trisomy 18 aortic coarctation repair of DORV (14 mo) Died during surgery PDA (4 mo) Strømme P VSD, ASD, Survived at home for 7 months, but et al 15) 000 Trisomy 13 ICR (3 mo) PDA died of fever unexpectedly at 10 mo VSD 1 patients; complete hemodynamic repair 3 patients; discharged alive 35 patients or (1 w/vsd, 3 w/coa, 3 w/pda, w/tof, (8 to home and 4 to referring with TOF 1 w/cavc) institutions) trisomy 18 or 4 patients; palliative surgery w/subsequent Graham EM 3 patients died et al 16) 004 (4 patients) CoA complete repair (4 w/vsd) (11d; just after VSD repair, 5 y; 46 and or 10 patients; palliative surgery only days after complete repair of TOF, trisomy 13 Isolated PDA (5 PABs for 3 w/vsd, 1 w/coa and VSD, 6y; 9 days after palliative surgery (11 patients) or 1 w/cavc, 4 SP shunts for 4 w/tof, of TOF) CAVC 1 PDA ligation for 1 w/vsd and PDA) PS: pulmonary artery stenosis, DORV: double outlet right ventricle, TOF: tetralogy of Fallot, CAVC: common atrioventricular canal, SP shunt: systemic-to-pulmonary artery shunt, w/: with 4 Fig
7 55 Body weight (kg) Surgery 3m 6m 1y 1y6m y y6m 3y 3y6m 4y Age Body weight (kg) st surgery nd surgery 3m 6m 1y 1y6m y y6m 3y 3y6m 4y Age Fig. 1 Body weight gain in case 1 (trisomy 13) before and after cardiac surgery. Fig. 3 Body weight gain in case 3 (trisomy 18) before and after cardiac surgery Body weight (kg) st surgery nd surgery Initiation of ventilation 3m 6m 1y 1y6m y y6m 3y 3y6m 4y Age Body weight (kg) nd surgery 1 st surgery Death 3m 6m 1y 1y6m y y6m 3y 3y6m 4y Age Fig. Body weight gain in case (trisomy 18) before and after cardiac surgery. Fig. 4 Body weight gain in case 4 (trisomy 18) before and after cardiac surgery. QOL NICU VSD VSD 3kg VSD kgpab VSD 13 1 GER 3 4 PAB HLHS PDA PAB Glenn Fontan
8 553 PAB ASD BAS ASD Norwood PDA PGE 1 PDA PAB ASD ASD 1318 QOL QOL pp Jones KL: Trisomy 18 syndrome, in Smith s recognizable patterns of human malformation, 6th edition, Philadelphia, Elsevier Saunders WB, 006, pp Wyllie JP, Wright MJ, Burn J, et al: Natural history of trisomy 13. Arch Dis Child 1994; : Embleton ND, Wyllie JP, Wright MJ, et al: Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 1996; : F Carter PE, Pearn JH, Bell J, et al: Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin Genet 1985; : http://18trisomy.com/ 001 on-line trisomy 1 Jpn Circ J 199Suppl IV Van Dyke DC, Allen M: Clinical management considerations in long-term survivors with trisomy 18. Pediatrics 1990; : Baty BJ, Blackburn BL, Carey JC: Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 1994; : Strømme P, Thaulow E, Geiran O: Cardiac surgery in a girl with trisomy 13. Cardiol Young 000; : Graham EM, Bradley SM, Shirali GS, et al: Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol 004; : Rasmussen SA, Wong LY, Yang Q, et al: Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 003; :
9 medical decision making Kosho T, Nakamura T, Kawame H, et al: Neonatal management of trisomy 18: Clinical details of 4 patients receiving intensive treatment. Am J Med Genet A 006; : Neonatal Care
244 HLHS HLHS はじめに HLHS HLHS ASD BAS ASD 2 Bil-PAB PGE1 Bil-PAB 3 BAS Norwood-Glenn 症例 1 29 HLHS ,536 g NICU 2 44 cm 2,536 g 54/34 mmh
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