ReviewCardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
Section snippets
Incidence
It should be noted that the overall estimate of how many patients with 22q11.2 deletions have congenital heart defects is likely biased with respect to (1) the degree to which asymptomatic patients with chromosomal deletions have been screened for associated aortic arch anomalies and (2) the biased ascertainment of affected infants but with the probable lack of ascertainment of minimally affected adults, that is, until they have affected children.
The largest series of 22q11.2 DS was reported by
Acknowledgment
Editorial help with this report from Joel S. Branch, Shonan Kamakura General Hospital, is much appreciated.
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Long-term Outcomes After Interrupted Aortic Arch Repair
2024, Annals of Thoracic SurgeryThe Genetics of Canine Pulmonary Valve Stenosis
2023, Veterinary Clinics of North America - Small Animal PracticeCardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
2023, European Journal of Medical GeneticsCitation Excerpt :Functional echocardiographic evaluation has been performed in patients with Down syndrome, Marfan syndrome and Turner syndrome (Balli et al., 2016; Abd El Rahman et al., 2015; Tancredi et al., 2011). Although morphology and cardiac surgery treatment of CHDs associated with 22q11.2DS have been well described (Marino et al., 2001; Carotti et al., 2008; Momma, 2010; Goldmuntz et al., 1998), no study on the cardiac function of these patients has ever been reported until now. In recent years, scientific evidence has extensively demonstrated the feasibility of a new echocardiographic method, Speckle Tracking Echocardiography (STE), in the clinical practice and its high sensitivity in detecting changes in cardiac contractility, earlier than conventional echocardiography, and before an established myocardial dysfunction occurs (Dohi et al., 2016).
Neonates With Right Aortic Arch Requiring Arch Reconstruction: A Single-Institution Experience
2022, Annals of Thoracic SurgeryCitation Excerpt :In our study, 47% of patients had DiGeorge syndrome; all of them had an IAA, which is a known association.13 Deletion of the 22q11.2 region leads to dysfunction of the neural crest cells and anterior heart field, which can result in conotruncal anomalies, typically tetralogy of Fallot, truncus arteriosus, and IAA.14 Studies report rates of 25% to 60% of 22q11.2 deletion in patients with IAA, and also RAA and aberrant subclavian artery.12,14-16
Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
2022, The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and TreatmentClinical Manifestations of 22q11.2 Deletion Syndrome
2022, Heart Failure Clinics
This study was supported by a grant from the Japanese Promotion Society for Cardiovascular Diseases, Tokyo, Japan.