Cardiology in the Young

Original Article

The importance of nomenclature for congenital cardiac disease: implications for research and evaluation

Matthew J. Stricklanda1a2 c1, Tiffany J. Riehle-Colarussoa1, Jeffrey P. Jacobsa3, Mark D. Rellera4, William T. Mahlea5, Lorenzo D. Bottoa6, Paige E. Tolberta2, Marshall L. Jacobsa7, Francois G. Lacour-Gayeta8, Christo I. Tchervenkova9, Constantine Mavroudisa10 and Adolfo Correaa1

a1 National Center on Birth Defects and Developmental Disabilities, US Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America

a2 Rollins School of Public Health, Emory University, Atlanta, Georgia, United States of America

a3 The Congenital Heart Institute of Florida (CHIF), Division of Thoracic and Cardiovascular Surgery, All Children’s Hospital and Children’s Hospital of Tampa, University of South Florida College of Medicine, Cardiac Surgical Associates (CSA), Saint Petersburg and Tampa, Florida, United States of America

a4 Oregon Health & Science University, Portland, Oregon, United States of America

a5 Children’s Healthcare of Atlanta, Emory University, Atlanta, Georgia, United States of America

a6 Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America

a7 St Christopher’s Hospital for Children, Drexel University, Philadelphia, Pennsylvania, United States of America

a8 Denver Children’s Hospital, University of Colorado, Denver, Colorado, United States of America

a9 Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada

a10 Children’s Memorial Hospital, Northwestern University, Chicago, Illinois, United States of America

Abstract

Background Administrative databases are often used for congenital cardiac disease research and evaluation, with little validation of the accuracy of the diagnostic codes.

Methods Metropolitan Atlanta Congenital Defects Program surveillance records were reviewed and classified using a version of the International Pediatric and Congenital Cardiac Code. Using this clinical nomenclature as the referent, we report the sensitivity and false positive fraction (1 – positive predictive value) of the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for tetralogy of Fallot, transposition of the great arteries, and hypoplastic left heart syndrome.

Results We identified 4918 infants and foetuses with congenital cardiac disease from the surveillance records. Using only the International Classification of Diseases diagnosis codes, there were 280 records with tetralogy, 317 records with transposition, and 192 records with hypoplastic left heart syndrome. Based on the International Pediatric and Congenital Cardiac Code, 330 records were classified as tetralogy, 163 records as transposition, and 179 records as hypoplastic left heart syndrome. The sensitivity of International Classification of Diseases diagnosis codes was 83% for tetralogy, 100% for transposition, and 95% for hypoplastic left heart syndrome. The false positive fraction was 2% for tetralogy, 49% for transposition, and 11% for hypoplastic left heart syndrome.

Conclusions Analyses based on International Classification of Diseases diagnosis codes may have substantial misclassification of congenital heart disease. Isolating the major defect is difficult, and certain codes do not differentiate between variants that are clinically and developmentally different.

Correspondence:

c1 Correspondence to: Matthew J. Strickland, Centers for Disease Control and Prevention, 1600 Clifton Rd. NE, Mailstop E-86 Atlanta, GA 30333, United States of America. Tel: 404-421-3183; Fax: 404-498-3040; E-mail: MStrickland@cdc.gov

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