European Heart Journal Advance Access originally published online on April 28, 2005
European Heart Journal 2005 26(18):1882-1886; doi:10.1093/eurheartj/ehi276
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Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy
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1Service de Cardiologie, Hôpital Ambroise Paré, AP-HP, 9 Avenue Charles De Gaulle, Boulogne, France
2Département de Génétique, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France
3Service de Biostatistique et d'Information Médicale, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France
4Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France
5Service de Cardiologie, Hôpital Européen Georges Pompidou, AP-HP, Paris, France
6Inserm U582, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France
7Service de Biochimie B, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France
8Service de Cardiologie, Hôpital Laënnec, Nantes, France
Received 29 July 2004; revised 4 March 2005; accepted 18 March 2005; online publish-ahead-of-print 28 April 2005.
* Corresponding author. Tel: +33 1 49 09 56 20; fax: +33 1 49 09 53 44. E-mail address: olivier.dubourg{at}apr.ap-hop-paris.fr
Aims To study the diagnostic value of a new 2D left ventricle hypertrophy (2D LVH) score in families with hypertrophic cardiomyopathy (HCM) in comparison with the conventional maximal wall thickness (MWT) measurement (>13 mm in adults), which is limited by a low sensitivity in relatives.
Methods and results The study was performed in 237 adults from genotyped families with HCM. Population A (derivation sample) comprised 109 adults and population B (validation sample) comprised 128 adults. MWT and 2D LVH scores (sum of thicknesses of four segments) were determined by echocardiography. Genotyping was the gold standard for diagnosis. In population A, a theoretical value for LVH score was determined in the healthy population by a multiple linear regression model including age, sex, and body surface area. An abnormal cut-off value was defined as an LVH score above a maximum theoretical value according to receiver operating characteristic analysis. Sensitivity and specificity were, respectively, 73 and 96% for 2D LVH score and 62.5 and 100% for MWT. Improvement of sensitivity was particularly important in adults <50 years of age (69 vs. 54%, respectively, P<0.04). These results were validated in population B: sensitivity and specificity of LVH score were, respectively, 75 and 96% in this sample and 67 and 97%, in the subgroup <50 years. In the latter, sensitivity of LVH score increased when compared with that of MWT (67 vs. 53%, P<0.03).
Conclusions The LVH score has a higher diagnostic value for HCM than the conventional criterion of MWT, particularly in young adults. This echographic parameter may be proposed as an alternative diagnostic criterion for familial screening.
Key Words: Hypertrophic cardiomyopathy • Left ventricular mass • Echocardiography • Gene • Diagnosis
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