Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: A comparative study

Atallah, Joseph; Joffe, Ari R.; Robertson, Charlene M.T.; Leonard, Norma; Blakley, Patricia M.; Nettel-Aguirre, Alberto; Sauvé, Reg; Ross, David B.; Rebeyka, Ivan M.

doi:10.1016/j.jtcvs.2007.03.007

Cited by 53 publications

(34 citation statements)

References 26 publications

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“…Although some studies indicate 22q11DS patients have worse outcome due to their multiple medical problems, 54 most studies have found the surgical results are not significantly different. 55,56 Once the diagnosis is made, immunologic evaluation is also recommended. Only the most severely immune deficient patients (Ͻ0.5%) require bone marrow or thymus transplantation, which seems to be effective in restoring normal immune function.…”

Section: Treatment Of the Diseasementioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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Abstract:The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects in 80% (with 20% having no outward signs to aid detection), hypocalcemia that can lead to seizures in 20% (though hypocalcemia is routinely investigated in sick newborns), and severe immune deficiency in Ͻ1% (which would be identified by some states' severe combined immunodeficiency screens). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey." Although universal screening may prove the incidence to be Ͼ1:5000, undetected life-threatening effects occur in a minority of 22q11 deletion syndrome patients. Concerns include an untested screening technique, difficulty obtaining results in time for cardiac intervention, the chance of "vulnerable child syndrome" in mild cases, and possibly detecting congenital heart disease more efficiently by other means. Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered. Genet Med 2010:12(3):135-144.

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Section: Treatment Of the Diseasementioning

confidence: 99%

Newborn screening programs: Should 22q11 deletion syndrome be added?

Bales

Zaleski

McPherson

2010

Genetics in Medicine

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“…The global delays and variations in intelligence and/or psychomotor development found in patients with del22q11.2 are not attributed to the cardiac condition or its treatment alone: they probably represent an independent component of the syndrome itself or result from the interaction between the syndrome and its treatment [Maharasingam et al, 2003;Gerdes et al, 1999]. It has been reported that comparison of neurodevelopmental outcome following cardiac surgery between children with del22q11.2 and peers without del22q11.2 shows significantly lower mental and psychomotor developmental indices scores, significantly higher rates of motor and mental delay, and lower intelligence quotient (IQ) scores in those with del22q11.2 [Forbess et al, 2002;Swillen et al, 2005;Atallah et al, 2007]. Furthermore, such difference is independent of the age at surgery, and it has been reported also in patients undergoing surgery as neonates [Atallah et al, 2007].…”

Section: Neurodevelopmental Outcomementioning

confidence: 99%

“…It has been reported that comparison of neurodevelopmental outcome following cardiac surgery between children with del22q11.2 and peers without del22q11.2 shows significantly lower mental and psychomotor developmental indices scores, significantly higher rates of motor and mental delay, and lower intelligence quotient (IQ) scores in those with del22q11.2 [Forbess et al, 2002;Swillen et al, 2005;Atallah et al, 2007]. Furthermore, such difference is independent of the age at surgery, and it has been reported also in patients undergoing surgery as neonates [Atallah et al, 2007]. These data suggest that the adverse outcomes for patients with del22q11.2 are strongly associated with the chromosomal abnormality and are associated to a lesser extent with the cardiac surgery and related events.…”

Section: Neurodevelopmental Outcomementioning

confidence: 99%

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

Carotti

Digilio

Piacentini

et al. 2008

Dev Disabil Res Revs

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Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. These conotruncal heart defects are frequently associated in this syndrome with additional cardiovascular anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves complicating cardiac anatomy and surgical treatment. In this review we describe the surgical anatomy, the operative treatment, and the prognostic results of the cardiac defects associated with 22q11.2 deletion syndrome. According to the current literature, in patients with tetralogy of Fallot with/without pulmonary atresia and truncus arteriosus, in spite of the complex cardiac anatomy, the presence of 22q11.2 deletion syndrome does not worsen the surgical prognosis. On the contrary in children with pulmonary atresia with ventricular septal defect and probably in those with interrupted aortic arch the association with 22q11.2 deletion syndrome is probably a risk factor for the operative treatment. The complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and broncospasm, laryngeal web, and tendency to airway bleeding must be considered at the time of diagnosis and surgical procedure. Specific diagnostic, surgical, and perioperative protocols should be applied in order to provide appropriate treatment and to reduce surgical mortality and morbidity.

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“…29 The chromosome 22q11.2 deletion syndrome has been demonstrated to be a significant risk factor for diminished neurodevelopmental outcome. 30 More subtle genetic variations such as apolipoprotein E genotype may also be important determinants of neurological and behavioral outcomes. 31 These findings help explain the well-described clinical scenario in which 2 patients with identical congenital heart defects and identical risk factors respond differently during the perioperative period.…”

Section: Challenge: Genetic and Genomic Factorsmentioning

confidence: 99%