POSTSCRIPT

Correspondence

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

S Romano^1,2, F Bajolle^2,3, V Valayannopoulos^1,2, S Lyonnet^1,2, V Colomb¹, C de Baracé⁴, P Vouhe¹, P Pouard¹, S Vuillaumier-Barrot⁵, T Dupré⁵, Y de Keyzer², D Sidi^2,3, N Seta^2,5, D Bonnet^2,3, P de Lonlay^1,2

¹ Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Département de Pédiatrie, Centre de Référence des Maladies Métaboliques; INSERM U-781, Paris, France
² Université Paris Descartes, Paris, France
³ Service de Cardiologie Pédiatrique et Chirurgie Cardiaque, Hôpital Necker-Enfants-Malades, Paris, France
⁴ Pédiatrie, Hôpital de Saint-Brieuc, France
⁵ AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, Paris, France

Correspondence to:
Professor P de Lonlay, Centre de Référence des Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France; pascale.delonlay@nck.aphp.fr

Received 14 January 2008
Revised version received 22 May 2008

Accepted 1 June 2008

The first 150 words of the full text of this article appear below.

Congenital heart defects (CHDs) are a group of structural abnormalities of the heart that have a combined incidence of approximately 1% in humans. It is estimated that 4–5% of CHDs are associated with chromosome abnormalities, 1–2% are associated with single gene syndromes, and 1–2% are due to known teratogens, with the rest presumably determined in a multifactorial fashion.¹

Conotruncal heart defects (CTHD) represent 15–20% of CHDs.² CTHDs share similar morphological architecture, with the presence of ventricular outflow tract anomalies but normal great arteries (without transposition) and include tetralogy of Fallot, pulmonary atresia with ventricular septal defect and truncus arteriosus and interrupted aortic arch.³

The most common causes of CTHDs and CHDs are 22q11.2 microdeletion, often detected in DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. Other chromosomal rearrangements are also been reported.¹

Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders caused by defects . . . [Full text of this article]

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