Chew Joshua D, Soslow Jonathan H, Thurm Cary, Hall Matt, Dodd Debra A, Feingold Brian, Simmons Jill, Godown Justin
Department of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt University, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37232-9119, USA.
Children's Hospital Association, Lenexa, KS, USA.
Pediatr Cardiol. 2018 Mar;39(3):610-616. doi: 10.1007/s00246-017-1801-8. Epub 2018 Jan 3.
Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not allow for identification of TS. This study describes experiences and outcomes of HTx in TS using a unique linkage between the Scientific Registry of Transplant Recipients and the Pediatric Health Information System databases. All pediatric HTx recipients (2002-2016) with TS were identified in the database using ICD-9 code 758.6 (gonadal dysgenesis) in conjunction with female sex. Patient characteristics and outcomes were described. Fourteen patients with TS were identified who underwent 16 HTx procedures at eight centers. For initial HTx, HLHS was the most common indication (10/14) with a median age of 10 months (IQR 3-73 months). Median transplant-free survival following initial HTx was 4.1 years (IQR 16 days-10.5 years), with all deaths occurring in the first year post-HTx. For patients that survived past 1 year (8/14), follow-up ranged from 4.1 to 10.9 years (median 8.0 years) with no deaths observed. Our cohort demonstrates that while there is a clear risk for early mortality, there is the potential for favorable outcomes following HTx in patients with TS. Therefore, TS should not be viewed as an absolute contraindication to HTx, but careful assessment of candidate risk is needed. Primary palliation with HTx for HLHS and TS may be a reasonable consideration given the poor outcomes of single ventricle palliation in this group. Further research is needed to fully delineate the outcomes and characteristics of this unique population.
患有左心发育不全综合征（HLHS）的特纳综合征（TS）患者单心室姑息治疗效果不佳；因此，考虑其他潜在的治疗策略很重要。由于标准的心脏移植（HTx）数据库无法识别TS患者，所以对于这一群体的心脏移植情况了解甚少。本研究利用移植受者科学注册库与儿科健康信息系统数据库之间的独特关联，描述了TS患者心脏移植的经验和结果。在数据库中，通过使用ICD-9编码758.6（性腺发育不全）并结合女性性别，识别出所有2002年至2016年接受儿科心脏移植的TS患者。描述了患者的特征和结果。共识别出14例TS患者，他们在8个中心接受了16次心脏移植手术。对于初次心脏移植，HLHS是最常见的适应证（14例中的10例），中位年龄为10个月（四分位间距3 - 73个月）。初次心脏移植后的中位无移植生存时间为4.1年（四分位间距16天 - 10.5年），所有死亡均发生在心脏移植后的第一年。对于存活超过1年的患者（14例中的8例），随访时间为4.1至10.9年（中位8.0年），未观察到死亡。我们的队列研究表明，虽然早期死亡风险明显，但TS患者心脏移植后仍有可能获得良好的结果。因此，不应将TS视为心脏移植的绝对禁忌证，但需要仔细评估候选者的风险。鉴于该组单心室姑息治疗效果不佳，对于HLHS合并TS患者，采用心脏移植进行初次姑息治疗可能是一个合理的考虑。需要进一步研究以全面描述这一独特人群的结果和特征。
