Cardiovascular anomalies associated with chromosome 22q11.2 deletion

Momma, Kazuo

doi:10.1016/j.ijcard.2006.02.002

Cited by 20 publications

(18 citation statements)

References 12 publications

(18 reference statements)

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“…The prevalence of congenital heart disease in fetuses with 22q11.2 deletion was 96% (53/55), which was much higher than the 75% to 80% reported in other series [18]. All study cases were referred to our tertiary center because of suspected cardiac defects, and therefore were not a random sample.…”

Section: Discussionmentioning

confidence: 87%

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

et al. 2014

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ObjectiveTo analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally.MethodsThis retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea.ResultsMain cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.ConclusionA variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.

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Section: Discussionmentioning

confidence: 87%

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

et al. 2014

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“…Studies have identified a 22q11del in a subset of patients with conotruncal defects including: tetralogy of Fallot (TOF), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defects (VSD), and have identified a higher prevalence of a 22q11del among those with a concurrent aortic arch anomaly [7–14]. In contrast, a 22q11del is uncommonly reported in patients with other conotruncal defects such as double outlet right ventricle (DORV) and transposition of the great arteries (TGA) [8, 14, 15]. …”

Section: Introductionmentioning

confidence: 99%

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

et al. 2013

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Background The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better define the cardiac phenotype associated with a 22q11del to help direct genetic testing. Methods 1,610 patients with conotruncal defects were sequentially tested for a 22q11del. Counts and frequencies for primary lesions and cardiac features were tabulated for those with and without a 22q11del. Logistic regression models investigated cardiac features that predicted deletion status in tetralogy of Fallot (TOF). Results Deletion frequency varied by primary anatomic phenotype. Regardless of the cardiac diagnosis, a concurrent aortic arch anomaly (AAA) was strongly associated with deletion status (OR 5.07, 95% CI: 3.66–7.04). In the TOF subset, the strongest predictor of deletion status was an AAA (OR 3.14, 95% CI: 1.87–5.27, p <0.001), followed by pulmonary valve atresia (OR 2.03, 95% CI: 1.02–4.02, p= 0.04). Among those with double outlet right ventricle and transposition of the great arteries, only those with an AAA had a 22q11del. However, five percent of patients with an isolated conoventricular ventricular septal defect and normal aortic arch anatomy had a 22q11del, while no one with an IAA-A had a 22q11del. Conclusion A subset of patients with conotruncal defects are at risk for a 22q11del. A concurrent AAA increases the risk regardless of the intracardiac anatomy. These findings help direct genetic screening for the 22q11.2 deletion syndrome in the cardiac patient.

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“…22q11.2 Deletion Syndrome (22q11.2DS) (OMIM #188400/#192430) is one of the most important genetic syndromes in cardiology due to its high prevalence in conotruncal and other cardiac anomalies -especially those of the cardiac outflow tract [1,2]. The phenotype encompasses several clinical genetic syndromes, including International Journal of Cardiology 131 (2008) 51 -58 www.elsevier.com/locate/ijcard velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome [3,4].…”

Section: Introductionmentioning

confidence: 99%

“…It may also be found in patients with truncus arteriosus, transposition of the great vessels, ventricular septal defect alone, and many other defects [8,[11][12][13]. Ancillary cardiovascular features, e.g., right aortic arch, are common [1,8,12,14]. Common extracardiac features include dysmorphic facial features, hypernasal speech, learning and behavioural difficulties, as well as other congenital anomalies.…”

Section: Introductionmentioning

confidence: 99%

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

Fung

Chow

Webb

et al. 2008

International Journal of Cardiology

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Cardiovascular anomalies associated with chromosome 22q11.2 deletion

Cited by 20 publications

References 12 publications

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

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