Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome

Johnson, Mark C.; Strauss, Arnold W.; Dowton, S. Bruce; Spray, Thomas L.; Huddleston, Charles B.; Wood, Mary K.; Slaugh, Rachel; Watson, Michael S.

doi:10.1016/s0002-9149(99)80803-0

Cited by 71 publications

(43 citation statements)

References 23 publications

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“…Using the same logic, data also support the testing of all infants with tetralogy of Fallot and one of the following associated features: absent pulmonary valve syndrome, aortic arch anomalies (including right aortic arch), pulmonary artery anomalies, or aortopulmonary collaterals (Table 1). [53][54][55] A high frequency of 22q11 deletion also supports testing of patients with both perimembranous VSD and associated aortic arch abnormalities 58 or those with isolated aortic arch abnormalities 55 (Table 1).…”

Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 63%

“…Individuals with both a cardiac defect and an aortic arch anomaly (right aortic arch, cervical location, or abnormal branching pattern) are more likely to have a 22q11 deletion, as are a subset of patients with tetralogy of Fallot associated with absent pulmonary valve syndrome or aortopulmonary collaterals. [53][54][55] Children with double-outlet right ventricle or transposition of the great arteries are rarely found to have a 22q11 deletion (Table 1). 51,[55][56][57][58][59][60][61][62] It is important to identify the cardiac patient with a 22q11 deletion by FISH testing to evaluate for associated noncardiac features of the syndrome in a timely fashion and to offer accurate genetic counseling.…”

Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 99%

See 1 more Smart Citation

Genetic Basis for Congenital Heart Defects: Current Knowledge

Pierpont¹,

Basson²,

Benson³

et al. 2007

Circulation

750

377

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Abstract-The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease. (Circulation. 2007;115:3015-3038.)

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Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 63%

Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 99%

Genetic Basis for Congenital Heart Defects: Current Knowledge

Pierpont¹,

Basson²,

Benson³

et al. 2007

Circulation

750

377

View full text Add to dashboard Cite

show abstract

“…14 Furthermore, right aortic arch, pulmonary atresia, or absent pulmonary valve syndrome are common morphological features among TOF patients with 22q11 deletion. 16,17 This high incidence of right aortic arch (50%) and pulmonary atresia (19%) in our patients with marked aortic root dilatation and the relatively common coexistence of absent pulmonary valve syndrome may suggest a possible link between aortic root dilatation and chromosome 22 q11deletion. However, this is purely speculative and we do not have data on phenotypes or chromosomal analysis for our patients.…”

Section: Potential Factors Relating To Late Aortic Root Dilatation Inmentioning

confidence: 67%

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

et al. 2002

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Background-Aortic valve or aortic root (AoRo) replacement is occasionally required because of AoRo dilatation and aortic regurgitation (AR) in repaired tetralogy of Fallot (TOF). We evaluated AoRo size and possible factors associated with its dynamic nature in adults with repaired TOF. Methods and Results-Of 216 patients with TOF repair who underwent echocardiography in 1997, we identified 32 patients (mean age, 36Ϯ8.0 years) with AoRo dilatation, defined as ratio of observed to expected AoRo size by standard nomogram Ͼ1.5 (group A), and 54 TOF controls, matched for age with AoRo ratio Ͻ1.5 (group B), who underwent at least 1 previous echocardiogram in the preceding 10 years. Mean indexed AoRo size (cm/m

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“…Right aortic arch has been reported in 25% of patients with TOF and is more common in patients with TOF and pulmonary atresia [45]. Furthermore, right aortic arch, pulmonary atresia, or absent pulmonary valve syndrome are common morphological features among TOF patients with 22q11 deletion [46]. We found statistically significant correlation between right arch and aortic root dilatation in our study, right arch has been reported in 28% of our TOF patients before intra-cardiac repair and in 37.14% in those with dilated aorta.…”

Section: Aortic Root Dilatation In Unrepaired Tetralogy Of Fallotmentioning

confidence: 99%

Predictors for Dilated Aorta in Repaired and Unrepaired Tetralogy of Fallot

Meguid¹,

Mahmoud²,

Mohammad³

2015

WJCD

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Aortic root pathology has been described in patients with Tetralogy of Fallot, although the most common reason for repeat surgery in the adult after TOF repair relates to problems in the right ventricular outflow tract, the aortic root is often forgotten. Objective: We sought to determine those patients with known Fallot tetrallogy at risk for progressive dilatation of the thoracic aorta and explore the common predictors present in this patient group. Methods and Results: A multicenter observational study which enrolled 100 patients (50 surgically repaired and 50 before surgical repair of TOF) with standardized reassessment of echocardiographic parameters and multislice CT angiography of the heart and great vessels data. The data were reviewed and analyzed according to the demographic, morphological, surgical and clinical details. We used standard nomograms and Z score for aortic root dimensions at the level of aortic annulus, sino- 23422% of patients after intra-cardiac repair of TOF. Older age at repair, long shunt to repair interval and residual ventricular septal defect are the most common variables associated with aortopathy and aortic regurgitation in such group of patients. The second important finding is the occurrence of aortic root dilatation in 70% of patients before surgical repair of TOF; whereas male sex and TOF with pulmonary atresia appeared to be the most common variables associated with aortopathy and aortic regurgitation in this group of patients.

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Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome

Cited by 71 publications

References 23 publications

Genetic Basis for Congenital Heart Defects: Current Knowledge

Genetic Basis for Congenital Heart Defects: Current Knowledge

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

Predictors for Dilated Aorta in Repaired and Unrepaired Tetralogy of Fallot

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