We assessed the value of existing guidelines for the evaluation of suspected congenital heart disease (CHD) in term neonates and propose a revised algorithm. Retrospective chart review of newborns referred for cardiac evaluation at a tertiary care center was performed. A total of 777 newborns qualified for the study. Among these, 3 critical and 8 major CHD were identified. The sensitivity of the combination of abnormal physical examination and pulse oximetry screening for major and critical CHD was 100%. The cost to detect a case of critical CHD, based on echocardiograms done for all abnormal electrocardiograms, was 3.4 times more than that incurred for performing this test on the basis of abnormal pulse oximetry and physical examination. Adding electrocardiogram to CHD screening increases cost without adding diagnostic yield. Based on our findings, we propose a revised algorithm for a systematic cost-effective approach to cardiac evaluation of term newborns with suspected CHD.
Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.
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