Abstract
Background: Multifactorial inheritance is probably involved in most cases of nonsyndromic conotruncal heart defects (CHDs), but Mendelian transmission is often suspected. Results: We report on a family with recurrence of nonsyndromic CTHD in two double first cousins; i.e., two brothers married two sisters. One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had truncus arteriosus (TA) with atrioventricular canal defect (AVCD). Conclusions: Our family further supports monogenic inheritance of CTHDs. In addition, the presence of TA associated with AVCD in one of the patients confirms the higher occurrence of CTHD in families with complex TA. The absence of 22q11 microdeletion [del22q11] in our patients, as in several literature reports of familial CTHDs, supports the existence of genes different to those located on chromosome 22q11 which could be implicated in the pathogenesis of CTHDs. (C) 2000 Wiley-Liss, Inc.
| Original language | English |
|---|---|
| Pages (from-to) | 329-331 |
| Number of pages | 3 |
| Journal | Teratology |
| Volume | 61 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2000 |
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ASJC Scopus subject areas
- Developmental Biology
- Health, Toxicology and Mutagenesis
- Embryology
- Toxicology
Cite this
Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal. / Digilio, M. Cristina; Marino, Bruno; Musolino, Anna Maria; Giannotti, Aldo; Dallapiccola, Bruno.
In: Teratology, Vol. 61, No. 5, 2000, p. 329-331.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal
AU - Digilio, M. Cristina
AU - Marino, Bruno
AU - Musolino, Anna Maria
AU - Giannotti, Aldo
AU - Dallapiccola, Bruno
PY - 2000
Y1 - 2000
N2 - Background: Multifactorial inheritance is probably involved in most cases of nonsyndromic conotruncal heart defects (CHDs), but Mendelian transmission is often suspected. Results: We report on a family with recurrence of nonsyndromic CTHD in two double first cousins; i.e., two brothers married two sisters. One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had truncus arteriosus (TA) with atrioventricular canal defect (AVCD). Conclusions: Our family further supports monogenic inheritance of CTHDs. In addition, the presence of TA associated with AVCD in one of the patients confirms the higher occurrence of CTHD in families with complex TA. The absence of 22q11 microdeletion [del22q11] in our patients, as in several literature reports of familial CTHDs, supports the existence of genes different to those located on chromosome 22q11 which could be implicated in the pathogenesis of CTHDs. (C) 2000 Wiley-Liss, Inc.
AB - Background: Multifactorial inheritance is probably involved in most cases of nonsyndromic conotruncal heart defects (CHDs), but Mendelian transmission is often suspected. Results: We report on a family with recurrence of nonsyndromic CTHD in two double first cousins; i.e., two brothers married two sisters. One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had truncus arteriosus (TA) with atrioventricular canal defect (AVCD). Conclusions: Our family further supports monogenic inheritance of CTHDs. In addition, the presence of TA associated with AVCD in one of the patients confirms the higher occurrence of CTHD in families with complex TA. The absence of 22q11 microdeletion [del22q11] in our patients, as in several literature reports of familial CTHDs, supports the existence of genes different to those located on chromosome 22q11 which could be implicated in the pathogenesis of CTHDs. (C) 2000 Wiley-Liss, Inc.
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U2 - 10.1002/(SICI)1096-9926(200005)61:5<329::AID-TERA3>3.0.CO;2-C
DO - 10.1002/(SICI)1096-9926(200005)61:5<329::AID-TERA3>3.0.CO;2-C
M3 - Article
VL - 61
SP - 329
EP - 331
JO - Teratology
JF - Teratology
SN - 0040-3709
IS - 5
ER -