霍尔特-奥勒姆综合征：一项基于欧洲登记处的研究。
Holt Oram syndrome: a registry-based study in Europe.
作者信息
Barisic Ingeborg, Boban Ljubica, Greenlees Ruth, Garne Ester, Wellesley Diana, Calzolari Elisa, Addor Marie-Claude, Arriola Larraitz, Bergman Jorieke Eh, Braz Paula, Budd Judith Ls, Gatt Miriam, Haeusler Martin, Khoshnood Babak, Klungsoyr Kari, McDonnell Bob, Nelen Vera, Pierini Anna, Queisser-Wahrendorf Annette, Rankin Judith, Rissmann Anke, Rounding Catherine, Tucker David, Verellen-Dumoulin Christine, Dolk Helen
出版信息
Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y.
BACKGROUND
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries.
METHODS
The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS.
RESULTS
A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births.
CONCLUSIONS
HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.
背景
霍尔特-奥拉姆综合征（HOS）是一种常染色体显性疾病，其特征为上肢异常和先天性心脏缺陷。我们利用欧洲先天性异常监测（EUROCAT）登记处的数据，展示了HOS患者的流行病学和临床情况。
方法
该研究基于34个登记处在1990年至2011年期间收集的数据。这些登记处以人群为基础，使用多种信息来源，通过标准化定义、方法和编码收集各类出生数据。纳入该研究的诊断标准为存在桡骨射线异常和先天性心脏病（CHD），或存在桡骨射线异常或CHD，且有HOS家族史。
结果
共确定73例HOS病例，其中11例（15.1%）为死胎，62例（84.9%）为活产。在73例HOS病例中，30.8%（20/65）在产前被怀疑，55.4%（36/65）在出生时被怀疑，10.7%（7/65）在出生后第一周被怀疑，3.1%（2/65）在出生后第一年内被怀疑。产前检出率为39.2%（20/51），在研究期间无显著变化。在产前检出的病例中，55%（11/20）的父母决定终止妊娠。所有病例均报告有拇指异常。49.2%（30/61）的患者存在桡骨发育不全/发育不良，24.6%（15/61）存在尺骨发育不全/发育不良，42.6%（26/61）存在肱骨发育不良/短肢畸形。78.7%（48/61）的患者记录有先天性心脏缺陷（CHD）。54.2%（26/48）的患者存在单纯性间隔缺损，而25%（12/48）的患者患有复杂/严重CHD。欧洲登记处产前或生命早期诊断的HOS平均患病率为每100,000例出生中有0.7例，即1:135,615例出生。
结论
HOS是一种罕见的遗传病，其患病率存在区域差异。尽管存在主要结构异常，但产前常被漏诊。当被发现时，45%（9/20）的病例中父母选择继续妊娠。虽然四分之一的患者患有严重CHD，但总体出生后第一周存活率非常高，这是咨询时的重要信息。
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