Impact of the new adjusted criteria on reclassification of families with Hypertrophic Cardiomyopathy
J R Gimeno Blanes, C Salmeron Lopez, M Roldan Medina, S Munteanu, B Garay Mayol, M Sabater Molina, M J Oliva Sandoval, M C Olmo ConesaAbstract
Background and Objectives
Diagnosis of hypertrophic cardiomyopathy (HCM) in adult patients relies on a fixed cut-off of 15 mm for isolated cases or 13 mm in the presence of a family history. Recently, new criteria adjusted for age, sex, and body surface area (BSA) have been proposed. The aim of this study was to compare the new criteria with the classical criteria for reclassification of individuals from families with HCM.
Methods
A total of 4,543 adult individuals (mean age 48.3±16.7 years) from 1,619 families with HCM were included from a registry of inherited cardiac diseases between 2003 and 2025. At first clinical evaluation, 1,864 individuals (41.03%) were classified as affected and 2,679 (58.97%) as non-affected. For case reclassification, age-, sex-, and body surface area (BSA)-adjusted wall-thickness thresholds from the published criteria were applied.
Results
Reclassification was not possible in 351 (7.72%) patients due to either BSA or age above or below the range. Finally, 4,192 individuals were eligible for evaluation using the new HCM criteria (2,257 males [53.8%] and 1,935 females [46.2%]). Overall, 107 affected individuals (6.1%) were reclassified as non-affected with the new criteria, whereas 320 previously non-affected individuals (13.1%) were reclassified as affected. By sex, 225 females (17.0%) and 95 males (8.5%) were reclassified as affected. Conversely, 14 (2.3%) females and 93 (8.2%) males were reclassified as non-affected. Reclassification differed significantly between sexes (p<0.0001). Regarding age, 169 older individuals (≥50 years; 24.5%) and 151 younger individuals (8.8%) were reclassified as affected. Conversely, 51 (4.4%) older and 56 (9.6%) younger were reclassified as non-affected (this difference was not statistically significant, p=0.35).
Conclusion
According to the new age-, sex-, and body surface area-adjusted HCM criteria, up to one in ten individuals may be misclassified as affected or non-affected when using the classical maximal wall thickness cut-off. This may have contributed to historical underdiagnosis in women compared with menReclassification sex ageImpact of new adjust criter HCM