Evidence map›Paper›PMID 36258181›Full record

ArticleBMC pediatrics2022

Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.

Shaimaa Rakha, Rehab Mohy-Eldeen, Mohammad Al-Haggar, Mohammed Attia El-Bayoumi

Open access · goldAbstract read
In one paragraph

Article in BMC pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 40% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Shaimaa RakhaPediatric Cardiology Unit, Pediatrics department, Faculty of Medicine, Mansoura University , El Gomhouria Street, 35516, Mansoura, Dakahlia Governorate, Egypt. drshimaarhaka@mans.edu.eg.
Rehab Mohy-EldeenResident of Pediatrics, Mansoura University Children Hospital, Mansoura University, Mansoura, Egypt.
Mohammad Al-HaggarGenetics Unit, Pediatrics department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Mohammed Attia El-BayoumiIntensive care Unit, Pediatrics department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Mansoura University · EGChildren's Hospital Mansoura University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital 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.

methodsFrom 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.

resultsA 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)].

conclusionThe 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.

Indexed as

Heart Defects, CongenitalHeart Septal DefectsHeart Septal Defects, VentricularChildCohort StudiesEgyptHumansCongenital Heart DiseasesEgyptianFamiliesNon-syndromicRecurrence

Identifiers

PMID36258181
PMCPMC9580194
OpenAlexW4306749951

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.