Abstract
Aim/objective Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis. Methods We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes. Results The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy. Conclusion Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.
| Original language | English |
|---|---|
| Pages (from-to) | 14-17 |
| Number of pages | 4 |
| Journal | Cardiology in the Young |
| Volume | 23 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 2013 |
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Keywords
- congenital heart defect
- conotruncal malformation
- Insulin-dependent diabetes
- sacral regression
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Pediatrics, Perinatology, and Child Health
Cite this
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother. / Dentici, Maria L.; Placidi, Silvia; Francalanci, Paola; Capolino, Rossella; Rinelli, Gabriele; Marino, Bruno; Digilio, Maria C.; Dallapiccola, Bruno.
In: Cardiology in the Young, Vol. 23, No. 1, 02.2013, p. 14-17.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
AU - Dentici, Maria L.
AU - Placidi, Silvia
AU - Francalanci, Paola
AU - Capolino, Rossella
AU - Rinelli, Gabriele
AU - Marino, Bruno
AU - Digilio, Maria C.
AU - Dallapiccola, Bruno
PY - 2013/2
Y1 - 2013/2
N2 - Aim/objective Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis. Methods We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes. Results The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy. Conclusion Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.
AB - Aim/objective Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis. Methods We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes. Results The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy. Conclusion Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.
KW - congenital heart defect
KW - conotruncal malformation
KW - Insulin-dependent diabetes
KW - sacral regression
UR - http://www.scopus.com/inward/record.url?scp=84873383315&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84873383315&partnerID=8YFLogxK
U2 - 10.1017/S1047951112000194
DO - 10.1017/S1047951112000194
M3 - Article
C2 - 22391434
AN - SCOPUS:84873383315
VL - 23
SP - 14
EP - 17
JO - Cardiology in the Young
JF - Cardiology in the Young
SN - 1047-9511
IS - 1
ER -