The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis

Homans, Jelle F.; Reuver, Steven de; Heung, Tracy; Silversides, Candice K.; Oechslin, Erwin; Houben, Michiel L.; McDonald‐McGinn, Donna M.; Kruyt, Moyo C.; Castelein, René M.; Bassett, Anne S.

doi:10.1016/j.spinee.2020.01.006

Cited by 9 publications

(5 citation statements)

References 38 publications

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“…A total of 28 articles met the selection criteria as described above, according to the PRISMA guidelines [5,6,. Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis, whereas 64.3% of individuals had CHD, which represented the most common clinical presentation in all studies reported [18,25,26,32]. Studies reported that the occurrence of scoliosis was not associated with the presence of CHD [25].…”

Section: Resultsmentioning

confidence: 99%

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

Montemurro

Ricciardi

Scerrati

et al. 2022

JPM

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Background: Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features in individuals with 22q11.2 deletion syndrome (DS), scoliosis can occur with a higher incidence than in the general population. Methods: A PubMed and Ovid Medline search was performed for idiopathic scoliosis in the setting of 22q11.2DS and miRNA according to PRISMA guidelines. Results: Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis. Conclusions: 22q11.2DS could be used as a model for the study of AIS. The DGCR8 gene seems to be essential for microRNA biogenesis, which is why we propose that a possible common pathological mechanism between scoliosis and 22q11.2DS could be the dysregulation of microRNA expression. In the current study, we identified two miRNAs that were altered in both 22q11.2DS and AIS, miR-93 and miR-1306, thus, corroborating the hypothesis that the two diseases share common molecular alterations.

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Section: Resultsmentioning

confidence: 99%

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

Montemurro

Ricciardi

Scerrati

et al. 2022

JPM

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“…Among the 13 cases of pathogenic CNVs detected by CMA, eight possessed microdeletion/microduplication syndrome, of which 22q11.2 and 16p11.2 microdeletions were more common. At present, there are many reports on the microdeletion of 22q11.2 and 16p11.2 being related to congenital heart disease; however, these diseases primarily constitute ventricular septal defects, and reports of PS are rare [ 17 – 20 ]. The findings of this study suggest that the 22q11.2 microdeletion and 16p11.2 microdeletion are related to PS.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

Cai

Guo

et al. 2023

BMC Med Genomics

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Background The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in human fetuses. Methods A retrospective analysis was performed on 84 fetuses with congenital PS in southern China. Fetal amniotic fluid and umbilical cord blood samples were obtained for chromosomal karyotype analysis and CMA. Results The rate of pathogenic copy number variation (CNV) was 15.5% (13/84) after karyotyping and CMA. An abnormal karyotype was detected in five cases (6.0%, 5/84) via karyotyping, whereas pathogenic CNVs were detected in 13 cases (15.5%, 13/84) via CMA. In addition to the five abnormal karyotypes detected using karyotype analysis, eight additional chromosomal microduplications and microdeletions were detected using CMA, comprising three cases of 22q11.21 microdeletion; two cases of 16p11.2 microdeletion; one case of simultaneous 18q23 microdeletion and 22q13.33 microduplication; one case of 15q24.1q24.2 microdeletion; and one case of 1q21.1q21.2 microduplication. The rate of pathogenic CNV occurrence was 11.5% in fetuses with isolated PS and 17.2% in fetuses with PS combined with other ultrasound abnormalities. This difference between the two experimental groups was statistically significant. Among 84 fetuses with PS, 39 pregnancies were terminated, and five were lost to follow-up. Conclusions CMA was not only conducive to detect PS-related pathogenic genomic abnormalities but also to accurately evaluate fetal prognosis in genetic counseling. The early detection of PS and genomic abnormalities will exerta positive impact on fetal intervention and the related prognosis of PS in perinatal infants.

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“…No differences were seen in risk for cardiac complications, including pulmonary valve replacement ventricular arrhythmias (VA), pacemaker implantation (PM), Implantable cardioverter-defibrillator (ICD). Genetic analysis is indicated in all patients, as 22q11.2DS is a risk factor for important outcomes (18) (19). TOF cases routinely have chest radiographs; in addition, based on the rapid growth of infants, scoliosis progression induces curve tends during this period.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Congenital Scoliosis and Tetralogy of Fallot With Neurodevelopment Delay: A Case Study and Literature Review

Ghandi

Karimi²,

Karimi³

2022

JPR

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As the most common congenital heart malformation, tetralogy of Fallot (TOF) produces cyanosis. Patients with TOF suffer from a higher frequency of major noncardiac congenital disorders. Its association with congenital scoliosis influences vital and functional overcomes, restricting physical activity and lowering life expectancy. An 8-month-old female child was reported with admitted cough, fever, and ruled-out pneumonia. The child was diagnosed with heart disease at 2-month-old when cyanosis was apparent. After being admitted to a hospital, history and physical examination showed mild neurodevelopmental delays, such as an inability in rolling and crawling. Her chest x-rays revealed congenital spine abnormalities thoracic vertebral at T3-T8 levels and bilateral segmented-bar sacral vertebrae. Given that patients with TOF routinely undergo chest radiographs, physicians examining TOF patients’ chest radiographs should be aware of the potential for congenital scoliosis to provide early diagnosis and referral for orthopedic evaluation and treatment.

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The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis

Cited by 9 publications

References 38 publications

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

Congenital Scoliosis and Tetralogy of Fallot With Neurodevelopment Delay: A Case Study and Literature Review

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