PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results.
PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results.
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DOI：
10.3389/fped.2021.763060
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发表时间：
2021
影响因子：
2.6
通讯作者：
Zühlke L
中科院分区：
文献类型：
--
作者：
Aldersley T;Lawrenson J;Human P;Shaboodien G;Cupido B;Comitis G;De Decker R;Fourie B;Swanson L;Joachim A;Magadla P;Ngoepe M;Swanson L;Revell A;Ramesar R;Brooks A;Saacks N;De Koning B;Sliwa K;Anthony J;Osman A;Keavney B;Zühlke L
目的：先天性心脏病伙伴关系（PROTEA）项目旨在为南部非洲建立一个密集表型和基因型先天性心脏病（CHD）队列。这将促进对该地区冠心病流行病学和遗传决定因素的研究。本文介绍了PROTEA项目，描述了其来自南非西开普省的初始队列，并将冠心病亚型的比例或“队列患病率”与国际研究结果进行了比较。方法：PROTEA是一个前瞻性的多中心冠心病登记和生物库。最初的队列是在2017年4月1日至2019年3月31日期间从南非西开普省的七家医院招募的。所有结构性冠心病患者均符合纳入条件。给出了初步队列的描述性数据。此外，将PROTEA儿科队列中26种冠心病亚型的队列患病率（即具有特定冠心病亚型的队列中患者的比例）与两项全球出生患病率研究中冠心病亚型的队列患病率进行了比较。结果：研究纳入1473名参与者，年龄超过2年，中位年龄为1.9岁（IQR 0.4-7.1）岁。主要亚型包括室间隔缺损（VSD）（339,20%）、房间隔缺损（ASD）（174,11%）、动脉导管未闭（185,11%）、房室间隔缺损（AVSD）（124,7%）和法洛四联症（121,7%）。与PROTEA的儿科队列相比，全球患病率估计VSDs是1.8倍（95% CI, 1.6-2.0）， ASDs是1.4倍（95% CI, 1.2-1.6）。avsd在PROTEA中的发生率是其2.1倍（95% CI, 1.7-2.5），肺动脉狭窄和双出口右心室的发生率也明显高于全球估计。产妇分娩年龄中位数为28岁（IQR 23-34）。82%（347/425）的母亲没有使用孕前补充剂，42%（105/250）的母亲没有使用妊娠早期补充剂。结论：某些轻度冠心病亚型的队列患病率低于国际估计，而某些严重亚型的队列患病率较高。PROTEA不是一项流行病学研究，这些不一致不太可能是流行病学真正差异的结果。然而，这些发现可能表明轻中度冠心病的诊断不足，以及冠心病管理和结局的差异。这再次强调了在该地区开展强有力的冠心病流行病学研究的必要性。
Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for southern Africa. This will facilitate research into the epidemiology and genetic determinants of CHD in the region. This paper introduces the PROTEA project, characterizes its initial cohort, from the Western Cape Province of South Africa, and compares the proportion or “cohort-prevalences” of CHD-subtypes with international findings. Methods: PROTEA is a prospective multicenter CHD registry and biorepository. The initial cohort was recruited from seven hospitals in the Western Cape Province of South Africa from 1 April 2017 to 31 March 2019. All patients with structural CHD were eligible for inclusion. Descriptive data for the preliminary cohort are presented. In addition, cohort-prevalences (i.e., the proportion of patients within the cohort with a specific CHD-subtype) of 26 CHD-subtypes in PROTEA's pediatric cohort were compared with the cohort-prevalences of CHD-subtypes in two global birth-prevalence studies. Results: The study enrolled 1,473 participants over 2 years, median age was 1.9 (IQR 0.4–7.1) years. Predominant subtypes included ventricular septal defect (VSD) (339, 20%), atrial septal defect (ASD) (174, 11%), patent ductus arteriosus (185, 11%), atrioventricular septal defect (AVSD) (124, 7%), and tetralogy of Fallot (121, 7%). VSDs were 1.8 (95% CI, 1.6–2.0) times and ASDs 1.4 (95% CI, 1.2–1.6) times more common in global prevalence estimates than in PROTEA's pediatric cohort. AVSDs were 2.1 (95% CI, 1.7–2.5) times more common in PROTEA and pulmonary stenosis and double outlet right ventricle were also significantly more common compared to global estimates. Median maternal age at delivery was 28 (IQR 23–34) years. Eighty-two percent (347/425) of mothers used no pre-conception supplementation and 42% (105/250) used no first trimester supplements. Conclusions: The cohort-prevalence of certain mild CHD subtypes is lower than for international estimates and the cohort-prevalence of certain severe subtypes is higher. PROTEA is not a prevalence study, and these inconsistencies are unlikely the result of true differences in prevalence. However, these findings may indicate under-diagnosis of mild to moderate CHD and differences in CHD management and outcomes. This reemphasizes the need for robust CHD epidemiological research in the region.
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DOI：
10.7196/samj.6622
发表时间：
2013-03-01
期刊：
SAMJ: South African Medical Journal
影响因子：
--
作者：
Benatar, S
通讯作者：
Benatar, S
DOI：
10.1177/2150135117725457
发表时间：
2017-11-01
影响因子：
0.9
作者：
Ekure, Ekanem N.;Bode-Thomas, Fidelia;Ogunkunle, Oluwatoyin O.
通讯作者：
Ogunkunle, Oluwatoyin O.
DOI：
10.1161/circgen.120.003108
发表时间：
2021-03
期刊：
Circulation. Genomic and precision medicine
影响因子：
--
作者：
Ekure EN;Adeyemo A;Liu H;Sokunbi O;Kalu N;Martinez AF;Owosela B;Tekendo-Ngongang C;Addissie YA;Olusegun-Joseph A;Ikebudu D;Berger SI;Muenke M;Han Z;Kruszka P
通讯作者：
Kruszka P
影响因子：
37.8
作者：
Kwan, Gene F.;Mayosi, Bongani M.;Bukhman, Gene
通讯作者：
Bukhman, Gene
影响因子：
2.2
作者：
Hose, D. Rodney;Lawford, Patricia V.;van de Vosse, Frans N.
通讯作者：
van de Vosse, Frans N.