Abstract
Purpose: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. Methods: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). Results: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. Conclusion: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infudibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.
| Original language | English |
|---|---|
| Pages (from-to) | 45-48 |
| Number of pages | 4 |
| Journal | Genetics in Medicine |
| Volume | 3 |
| Issue number | 1 |
| Publication status | Published - 2001 |
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Keywords
- Cardiovascular malformation
- Congenital heart disease
- Conotruncal heart defects
- Deletion 22q11
- DiGeorge/velocardiofacial syndrome
- Genotype-phenotype correlation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Anatomic patterns of conotruncal defects associated with deletion 22q11. / Marino, Bruno; Digilio, Maria Cristina; Toscano, Alessandra; Anaclerio, Silvia; Giannotti, Aldo; Feltri, Cristiana; De Ioris, Maria Antonietta; Angioni, Adriano; Dallapiccola, Bruno.
In: Genetics in Medicine, Vol. 3, No. 1, 2001, p. 45-48.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Anatomic patterns of conotruncal defects associated with deletion 22q11
AU - Marino, Bruno
AU - Digilio, Maria Cristina
AU - Toscano, Alessandra
AU - Anaclerio, Silvia
AU - Giannotti, Aldo
AU - Feltri, Cristiana
AU - De Ioris, Maria Antonietta
AU - Angioni, Adriano
AU - Dallapiccola, Bruno
PY - 2001
Y1 - 2001
N2 - Purpose: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. Methods: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). Results: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. Conclusion: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infudibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.
AB - Purpose: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. Methods: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). Results: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. Conclusion: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infudibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.
KW - Cardiovascular malformation
KW - Congenital heart disease
KW - Conotruncal heart defects
KW - Deletion 22q11
KW - DiGeorge/velocardiofacial syndrome
KW - Genotype-phenotype correlation
UR - http://www.scopus.com/inward/record.url?scp=0035746361&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035746361&partnerID=8YFLogxK
M3 - Article
C2 - 11339377
AN - SCOPUS:0035746361
VL - 3
SP - 45
EP - 48
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 1
ER -