Pediatric Cardiology Unit, Pediatrics department, Faculty of Medicine, Mansoura University , El Gomhouria Street, 35516, Mansoura, Dakahlia Governorate, Egypt.
Resident of Pediatrics, Mansoura University Children Hospital, Mansoura University, Mansoura, Egypt.
BMC Pediatr. 2022 Oct 19;22(1):607. doi: 10.1186/s12887-022-03640-4.
Congenital heart diseases (CHD) are the commonest congenital anomalies with increased risk in children born from families with affected members. However, various recurrence patterns of CHDs have been reported in different populations. Therefore, this work aimed to assess the recurrence patterns of CHDs in a large sample of Egyptian families.
From January 2020 to October 2021, non-syndromic children with confirmed CHDs were recruited. Data were collected from guardians of the recruited children and hospital records, including the index case's cardiac diagnosis and CHD diagnosis of other affected family members with to determine their recurrence pattern, consanguinity, and multi-gestation status.
A total of 130 recurrent cases with CHD were documented in 1960 families of children with CHD, including 66,989 members. Most recurrences were detected among first-degree relatives 50/130 (38.46%), especially siblings. Discordant recurrence was the most detected pattern (45.38%), followed by concordant recurrence (42.31%), and the least was group concordance. Recurrence rate was the highest for septal defects with left ventricular outflow tract obstruction (LVOTO) (11.8%) and anomalous venous drainage (11.1%), followed by septal defect with right ventricular outflow tract obstruction (RVOTO) (9.4%), isolated ventricular septal defect (VSD) category (8.2%) and LVOTO (8%). Familial recurrence was significant in consanguineous marriages [p = 0.0001; OR (95%CI) = 4.5 (2.25-9.01)] and in multi-gestations siblings: [p = 0.036; OR (95%CI) = 12.5(1.03-6.04)].
The recurrence of non-syndromic CHD is evident among first-degree relatives in Egyptian families, with mostly a discordant recurrence pattern. Recurrence was more notable in septal defects with LVOTO, anomalous venous drainage, septal defect with RVOTO, isolated VSD, and isolated LVOTO diagnostic categories. This finding will significantly impact family counseling, emphasizing higher recurrence in consanguineous parents.
先天性心脏病（CHD）是最常见的先天性异常，在有患病成员的家庭中，孩子患该病的风险增加。然而，不同人群报道的 CHD 复发模式各不相同。因此，本工作旨在评估埃及大家庭中 CHD 的复发模式。
2020 年 1 月至 2021 年 10 月，我们招募了患有确诊 CHD 的非综合征患儿。数据来自患儿监护人及医院记录，包括索引病例的心脏诊断及其他患病家族成员的 CHD 诊断，以确定其复发模式、血缘关系和多胎状态。
在 1960 个 CHD 患儿家庭中记录到 130 例 CHD 复发病例，共涉及 66989 名成员。大多数复发发生于一级亲属（50/130，38.46%），尤其是兄弟姐妹。最常见的复发模式为不一致复发（45.38%），其次为一致复发（42.31%），最少为群体一致性。左心室流出道梗阻（LVOTO）伴间隔缺损（11.8%）和异常静脉引流（11.1%）的复发率最高，其次为右心室流出道梗阻（RVOTO）伴间隔缺损（9.4%）、孤立性室间隔缺损（8.2%）和 LVOTO（8%）。血缘婚姻（p=0.0001；OR（95%CI）=4.5（2.25-9.01））和多胎兄弟姐妹（p=0.036；OR（95%CI）=12.5（1.03-6.04））的家族复发有统计学意义。
在埃及家庭中，非综合征性 CHD 的复发明显见于一级亲属，主要为不一致的复发模式。LVOTO、异常静脉引流、RVOTO 伴间隔缺损、孤立性 VSD 和孤立性 LVOTO 诊断类别中，复发更为显著。这一发现将对家庭咨询产生重大影响，强调了血缘关系父母的更高复发风险。
