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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Misclassification of hypertrophic cardiomyopathy: validation of diagnostic codes

Peter Magnusson1,2, Andreas Palm2,3, Eva Branden2,4

  • 1Cardiology Research Unit, Department of Medicine, Karolinska Institutet, Stockholm.

Clinical Epidemiology
|August 30, 2017
PubMed

Insights

A third of hypertrophic cardiomyopathy (HCM) diagnoses are incorrect, highlighting issues with diagnostic codes. Improved awareness and competence are crucial for accurate HCM care and patient outcomes.

Area of Science:

  • Cardiology
  • Medical Informatics
  • Public Health

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant cardiovascular condition.
  • Accurate diagnosis is essential for effective patient management and treatment.
  • Diagnostic codes in national registries may have varying accuracy.

Purpose of the Study:

  • To validate diagnostic codes for hypertrophic cardiomyopathy (HCM).
  • To analyze misclassifications associated with HCM diagnostic codes.
  • To estimate the prevalence of HCM in a Swedish regional cohort.

Main Methods:

  • Utilized electronic medical records linked to the Swedish National Patient Register.
  • Identified 136 patients with HCM-related International Classification of Diseases codes (142.1, 142.2) between 2006 and 2016.
  • Reviewed medical records to confirm HCM diagnosis and identify misclassifications.

Main Results:

  • Positive predictive value for HCM diagnostic codes was 68.2%, with 31.8% misclassified.
  • Estimated HCM prevalence at 4.0 diagnosed cases per 10,000 adults (aged ≥18).
  • Common misclassifications included hypertension and aortic stenosis; other cardiomyopathies also contributed.

Conclusions:

  • A significant proportion of diagnosed HCM cases are misclassified, necessitating caution with registry data.
  • Accurate HCM diagnosis is critical for appropriate clinical decision-making and care.
  • Enhanced awareness and diagnostic competence are needed within the healthcare system to improve HCM identification.
Abstract

Keywords:
International Classification of Diseasesdiagnosisdiagnostic errorepidemiologyhypertrophic cardiomyopathyregister

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