A rare association of interrupted aortic arch type C and microdeletion 22q11.2

Čuturilo, Goran; Drakulić, Danijela; Stevanović, Milena; Jovanovic, Ida; Djukic, Milan; Miletic-Grkovic, Slobodanka; Atanasković-Marković, Marina

doi:10.1007/s00431-007-0632-7

Cited by 8 publications

(4 citation statements)

References 13 publications

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“…In our series, a 22q11.2 deletion was only observed in cases with type B but not type A interruption of the aortic arch regardless of other associated cardiac anomalies (i.e., simple or complex intracardiac anatomy), though rare patients with interrupted aortic arch type A and a 22q11.2 deletion have been reported (Volpe, Gentile, & Marasini, ). We and others have identified a 22q11.2 deletion in rare patients with type C interruption of the aortic arch (unpublished findings and (Cuturilo et al, ; Fujii, Ueno, Kurano, & Goto, )).…”

Section: The 22q112 Deletion Syndrome In the Chd Populationsupporting

confidence: 52%

22q11.2 deletion syndrome and congenital heart disease

Goldmuntz

2020

American J of Med Genetics Pt C

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The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4–6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital heart disease. Approximately 60–80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies. Cardiac patients with a 22q11.2 deletion do not generally experience higher mortality upon surgical intervention but suffer more peri‐operative complications than their non‐syndromic counterparts. New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septal defects as well as those with an isolated aortic arch anomaly. Early identification of a 22q11.2 deletion in the neonate or infant when other syndromic features may not be apparent allows for timely parental screening for reproductive counseling and anticipatory evaluation of cardiac and noncardiac features. Screening the at‐risk child or adult allows for important age‐specific clinical, neurodevelopmental, psychiatric, and reproductive issues to be addressed.

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Section: The 22q112 Deletion Syndrome In the Chd Populationsupporting

confidence: 52%

22q11.2 deletion syndrome and congenital heart disease

Goldmuntz

2020

American J of Med Genetics Pt C

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“…Affected parents may experience mild phenotype. For this reason, testing for 22q11 deletion should be offered to all parents of affected children for the purpose of genetic counseling 23 , 24 . In the patient in this study, the parents were also surveyed, and the MLPA in both resulted normal.…”

Section: Discussionmentioning

confidence: 99%

Investigation of copy number variation in children with conotruncal heart defects

Campos¹,

Zanardo²,

Dutra³

et al. 2014

Arquivos Brasileiros De Cardiologia

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BackgroundCongenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations.ObjectivesInvestigate gene copy number variation (CNV) in children with conotruncal heart defect.MethodsMultiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated.ResultsGene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents.ConclusionsOur results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

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“…He has a rare form of interrupted aortic arch type C and facial dysmophia with slightly deranged contour of the ear. The FISH analysis demonstrated 22q11.2 microdeletion in this Patient (CUTURILO et al, 2008) (Figure 2a). His parents underwent genetic testing and, by applying the FISH, 22q11.2 microdeletion was detected in patient's mother ( Figure 2b).…”

Section: Detection Of 22q112 Microdeletion In Patients With Phenotypmentioning

confidence: 82%

“…Clinical presentation of Patient 2 was described in our previous report (CUTURILO et al, 2008). He has a rare form of interrupted aortic arch type C and facial dysmophia with slightly deranged contour of the ear.…”

Section: Detection Of 22q112 Microdeletion In Patients With Phenotypmentioning

confidence: 88%

Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

Rakonjac¹,

Čuturilo

Stevanović

et al. 2016

Genetika

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The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.

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A rare association of interrupted aortic arch type C and microdeletion 22q11.2

Cited by 8 publications

References 13 publications

22q11.2 deletion syndrome and congenital heart disease

22q11.2 deletion syndrome and congenital heart disease

Investigation of copy number variation in children with conotruncal heart defects

Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

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