title: Diagnostic miscues in congenital long-QT syndrome.
abstract: BACKGROUND
  Long-QT syndrome (LQTS) is a potentially lethal cardiac channelopathy that can be mistaken for palpitations, neurocardiogenic syncope, and epilepsy. Because of increased physician and public awareness of warning signs suggestive of LQTS, there is the potential for LQTS to be overdiagnosed. We sought to determine the agreement between the dismissal diagnosis from an LQTS subspecialty clinic and the original referral diagnosis.
  
  
  RESULTS
  Data from the medical record were compared with data from the outside evaluation for 176 consecutive patients (121 females, median age 16 years, average referral corrected QT interval [QTc] of 481 ms) referred with a diagnosis of LQTS. After evaluation at Mayo Clinic's LQTS Clinic, patients were categorized as having definite LQTS (D-LQTS), possible LQTS (P-LQTS), or no LQTS (No-LQTS). Seventy-three patients (41%) were categorized as No-LQTS, 56 (32%) as P-LQTS, and only 47 (27%) as D-LQTS. The yield of genetic testing among D-LQTS patients was 78% compared with 34% for P-LQTS and 0% among No-LQTS patients (P<0.0001). The average QTc was greater in either D-LQTS or P-LQTS than in No-LQTS (461 versus 424 ms, P<0.0001). Vasovagal syncope was more common among the No-LQTS subset (28%) than the P-LQTS/D-LQTS group (8%; P=0.04). Determinants for discordance (ie, positive outside diagnosis versus No-LQTS) included overestimation of QTc, diagnosing LQTS on the basis of "borderline" QTc values, and interpretation of a vasovagal fainting episode as an LQTS-precipitated cardiac event.
  
  
  CONCLUSIONS
  Diagnostic concordance was present for less than one third of the patients who sought a second opinion. Two of every 5 patients referred with the diagnosis of LQTS departed without such a diagnosis. Miscalculation of the QTc, misinterpretation of the normal distribution of QTc values, and misinterpretation of symptoms appear to be responsible for most of the diagnostic miscues.
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
authors.forename: Nathaniel W
authors.initials: NW
authors.lastname: Taggart
authors.forename: Carla M
authors.initials: CM
authors.lastname: Haglund
authors.forename: David J
authors.initials: DJ
authors.lastname: Tester
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003951:Diagnostic Errors / Q000706:statistics & numerical data*; D004562:Electrocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011336:Probability; D012016:Reference Values; D012189:Retrospective Studies; D013575:Syncope / Q000209:etiology