title: Differences in diagnostic value of four electrocardiographic voltage criteria for hypertrophic cardiomyopathy in a genotyped population.
abstract: The diagnostic value of various classic electrocardiographic (ECG) voltage criteria for hypertrophic cardiomyopathy (HC) has not been established in a genotyped population. This study aimed to determine the most accurate diagnostic definition of classic ECG voltage criteria for detecting carriers of HC. ECG and echocardiographic findings were analyzed in 161 genotyped subjects (97 genetically affected, 64 unaffected) from 20 families with disease-causing mutations in 4 genes. The diagnostic value of 4 voltage criteria (Cornell, Sokolow-Lyon, Romhilt-Estes, and 12-lead QRS voltage) for detecting carriers of HC was investigated. In all subjects, the Romhilt-Estes (point score > or =4) criterion and 12-lead QRS voltage (> or =240 mm) were most sensitive (37% and 36%, respectively), with high specificity (95% each), resulting in the greatest accuracy (60% and 59%, respectively). Using these criteria, in subjects without echocardiographic evidence of left ventricular hypertrophy, voltage abnormalities were found in 22.6% of carriers and 4.7% of noncarriers (p <0.01). In conclusion, these findings suggest that the Romhilt-Estes and the 12-lead QRS voltage criteria may be the most accurate diagnostic definitions for HC on the basis of molecular genetic diagnoses. Furthermore, this study demonstrated that voltage abnormalities may be found in prehypertrophic carriers. Even when genetic testing becomes widely available, it will be difficult to make genetic diagnoses in all patients with HC because of its genetic heterogeneity. Therefore, understanding the diagnostic value of classic ECG voltage criteria may be important in detecting carriers, including those without left ventricular hypertrophy.
authors.affiliation: Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan. kontetsu@im2.m.kanazawa-u.ac.jp
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Konno
authors.forename: Masami
authors.initials: M
authors.lastname: Shimizu
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Ino
authors.forename: Noboru
authors.initials: N
authors.lastname: Fujino
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
authors.forename: Katsuharu
authors.initials: K
authors.lastname: Uchiyama
authors.forename: Tomoya
authors.initials: T
authors.lastname: Kaneda
authors.forename: Masaru
authors.initials: M
authors.lastname: Inoue
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujita
authors.forename: Eiichi
authors.initials: E
authors.lastname: Masuta
authors.forename: Akira
authors.initials: A
authors.lastname: Funada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: D000328:Adult; D000367:Age Factors; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004247:DNA / Q000032:analysis; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D019210:Troponin I / Q000235:genetics; D020107:Troponin T / Q000235:genetics
chemical_list: D019210:Troponin I; D020107:Troponin T; D004247:DNA