Is cardiac surgery warranted in children with Down syndrome? A case-controlled review.

OBJECTIVES: To compare children with Down syndrome and children without Down syndrome and investigate whether there is a significant difference in the burden that is placed on the health care system between these two groups only in respect of the repair of congenital heart disease at Red Cross War Memorial Children's Hospital, Cape Town, South Africa. DESIGN: This study is a retrospective case control review. SETTING: Red Cross War Memorial Children's Hospital, Cape Town, South Africa. SUBJECTS: The sample group of 50 Down syndrome children who had received cardiac surgery between January 1998 and June 2003 was compared with a control group of 50 nonsyndromic children who had received cardiac surgery during the same period. OUTCOME MEASURES: Sex and diagnoses (cardiac and noncardiac), number of days spent in hospital and in ICU, complication rates, re-operation rates, early mortality rates, planned further cardiac surgery. Costs of these outcomes were not quantified in exact monetary terms. RESULTS: There was no significant difference between the two groups in terms of the burden that was placed on the health care system. Similar complication rates, re-operation rates and early mortality rates were recorded for both groups. The Down syndrome group appeared to benefit more from cardiac surgery than the non-Down syndrome group. CONCLUSION: Denying cardiac surgery to children with Down syndrome does not improve the efficiency of resource allocation. It is therefore not reasonable to suggest that the problem of scarce resources can be ameliorated by discriminating against children with Down syndrome.

The 22q11.2 deletion: from diversity to a single gene theory.

The 22q11 deletion syndromes are a group of conditions in which a characteristic spectrum of congenital cardiac defects may be associated with a wide range of noncardiological congenital anomalies. These syndromes are all linked by a deletion in the long arm of chromosome 22. Although it is a large deletion, containing many genes, recent advances have led to the belief that the etiology of the diverse abnormalities of these syndromes may be a single gene deletion. This review outlines the historical development of the various "22q deletion syndromes," including the DiGeorge, velocardiofacial, Takao, Cayler, and CATCH-22 syndromes, briefly describes the relevant cardiac embryogenesis, and then explains how a single gene deletion may encompass the full phenotypic spectrum.