Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)14-17
Number of pages4
JournalCardiology in the Young
Volume23
Issue number1
DOIs
Publication statusPublished - Feb 2013

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DiGeorge Syndrome
Mothers
Newborn Infant
Truncus Arteriosus
Hypertrophic Cardiomyopathy
Insulin
Phenotype
Pregnancy

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

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title = "Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother",
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.",
keywords = "congenital heart defect, conotruncal malformation, Insulin-dependent diabetes, sacral regression",
author = "Dentici, {Maria L.} and Silvia Placidi and Paola Francalanci and Rossella Capolino and Gabriele Rinelli and Bruno Marino and Digilio, {Maria C.} and Bruno Dallapiccola",
year = "2013",
month = "2",
doi = "10.1017/S1047951112000194",
language = "English",
volume = "23",
pages = "14--17",
journal = "Cardiology in the Young",
issn = "1047-9511",
publisher = "Cambridge University Press",
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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

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