Key result
Adjusted HCM diagnostic criteria reclassify ~13% of non-affected relatives as affected, with marked sex differences.
Why the study?
New diagnostic criteria for HCM adjusted for age, sex, and BSA have been proposed, and their impact on reclassifying individuals from families with HCM compared with classical fixed wall-thickness cut-offs needed evaluation.
Does applying age-, sex-, and body surface area-adjusted wall-thickness criteria alter the diagnostic classification of individuals from families with hypertrophic cardiomyopathy compared to classical fixed cut-off criteria?
Observational (n=4,543)
Does applying age-, sex-, and body surface area-adjusted wall-thickness criteria alter the diagnostic classification of individuals from families with hypertrophic cardiomyopathy compared to classical fixed cut-off criteria?
Using age-, sex-, and BSA-adjusted wall-thickness criteria reclassifies approximately one in ten individuals from HCM families and suggests that fixed cut-offs have historically contributed to the underdiagnosis of HCM in women.
Supports personalized wall-thickness thresholds to reduce HCM underdiagnosis in women; leaves open the long-term prognostic impact of these reclassifications.
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
No takes yet. Share an insight, caveat, or question.
Blanes et al. (2026) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=4,543). Age-, sex-, and body surface area (BSA)-adjusted wall-thickness HCM diagnostic criteria vs. Classical fixed maximal wall-thickness cut-off criteria (15 mm or 13 mm) was evaluated on Reclassification of HCM disease status (affected vs. non-affected) (p=<0.0001). Age-, sex-, and BSA-adjusted HCM criteria reclassified 13.1% of non-affected individuals as affected and 6.1% of affected as non-affected, with significant sex differences (p<0.0001).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: