A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.
A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.
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DOI：
10.1111/chd.12413
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发表时间：
2017-01
影响因子：
0.3
通讯作者：
Morris SA
中科院分区：
文献类型：
--
作者：
Lara DA;Ethen MK;Canfield MA;Nembhard WN;Morris SA
左心发育不良综合征（HLHS）与特纳综合征（TS）密切相关;当这些情况共存时，结局数据很少。我们的目标是调查该人群的长期生存和死亡原因。在德克萨斯州出生缺陷登记处查询了1999-2007年期间所有患有HLHS的活产婴儿。我们使用Kaplan-Meier和考克斯回归分析比较了伴有TS的HLHS患者（HLHS/TS+）与没有遗传性疾病或心外出生缺陷的HLHS患者（HLHS/TS-）的生存率。在542例HLHS患者中，11例患有TS（2.0%），71例患有其他心外出生缺陷或遗传性疾病，463例两者都没有。中位随访时间为4.2年（四分位距[IQR] 2.1-6.5）。比较HLHS/TS+和HLHS/TS-，100%和35%是女性（P < .001），中位出生体重分别为2140 g（IQR 1809-2650）和3196 g（IQR 2807-3540，P < .001）。HLHS/TS+组新生儿死亡率为36%，HLHS/TS-组为27%（对数秩= 0.431）。11例TS+患者中有10例在研究期间死亡，累积死亡率为91% vs 50%（TS+的风险比（HR）：2.90，95% CI 1.53-5.48）。6例患者在手术前死亡，5例接受1期姑息治疗（S1 P），3例在S1 P后死亡，2例在S2 P后存活，其中1例在19个月时死亡。在HLHS/TS+患者的所有死亡证明中，死亡的根本原因均被列为先天性心脏病。在控制低出生体重（<2500 g）的多变量分析中，TS仍然与累积死亡率显著增加相关，尽管无TS的女性死亡率高于男性（TS+与男性的HR：2.42，95% CI 1.24-4.73; TS-女性与男性的HR：1.41，95% CI 1.08-1.83）。TS伴HLHS与显著死亡率相关。没有记录TS的女性死亡率增加，这让人质疑TS是否在部分HLHS女性中未检测到。
Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999–2007. We used Kaplan–Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS−). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1–6.5). Comparing those with HLHS/TS+ to HLHS/TS−, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809–2650) versus 3196 g (IQR 2807–3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS− (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53–5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24–4.73; HR for TS− females versus males: 1.41, 95% CI 1.08–1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS.
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影响因子：
5.2
作者：
Massa, G;Verlinde, F;Heinrichs, C
通讯作者：
Heinrichs, C
影响因子：
5.3
作者：
KAJII, T;FERRIER, A;AVIRACHAN, S
通讯作者：
AVIRACHAN, S
DOI：
10.1002/tera.1420120103
发表时间：
1975-01-01
期刊：
TERATOLOGY
影响因子：
--
作者：
BOUE, J;BOUE, A;LAZAR, P
通讯作者：
LAZAR, P
影响因子：
4.6
作者：
Jacobs, Jeffrey P.;O'Brien, Sean M.;Quintessenza, James A.
通讯作者：
Quintessenza, James A.
影响因子：
37.8
作者：
Marelli, Ariane;Gauvreau, Kimberlee;Jenkins, Kathy
通讯作者：
Jenkins, Kathy