2026-05-11 アメリカ国立衛生研究所（NIH）
- https://www.nih.gov/news-events/news-releases/researchers-develop-innovative-model-risk-assessment-hypertrophic-cardiomyopathy
- https://jamanetwork.com/journals/jama/article-abstract/2848800
肥大型心筋症における長期予後予測因子 NHLBI HCMレジストリ Predictors of Long-Term Outcomes in Hypertrophic Cardiomyopathy The NHLBI HCM Registry
The HCMR Investigators
Journal of the American Medical Association Published:May 11, 2026
DOI:10.1001/jama.2026.5633
Key Points
Question What are the important historical, imaging, genetic, and blood biomarker predictors of risks in hypertrophic cardiomyopathy?
Findings In this prospective registry-based study of 2698 patients with hypertrophic cardiomyopathy, primary composite outcomes in hypertrophic cardiomyopathy were predicted by cardiac magnetic resonance (CMR) imaging measures of left ventricular (LV) structure including mass and scar extent, LV function, heart failure history, and N-terminal pro–B-type natriuretic peptide (NT-proBNP). Sudden cardiac death outcomes, including appropriately treated ventricular arrhythmias, were predicted by LV structure and function and NT-proBNP.
Meaning These results provide prospective evidence for incorporating CMR and NT-proBNP in the evaluation of patients with hypertrophic cardiomyopathy.
Abstract
Importance Current risk prediction guidelines for hypertrophic cardiomyopathy predict only sudden cardiac death and are imperfect, leading to avoidable deaths and unnecessary implantable cardioverter defibrillators.
Objective To combine prospectively collected clinical history, imaging, genetic, and biomarker data to improve risk prediction of adverse events in hypertrophic cardiomyopathy.
Design, Setting, and Participants A total of 2750 patients with hypertrophic cardiomyopathy were prospectively enrolled in the registry-based study from 44 sites in North America and Europe with expertise in hypertrophic cardiomyopathy and cardiac magnetic resonance (CMR) imaging. Participants were enrolled from April 1, 2014, to April 7, 2017.
Exposures Patients underwent a health history questionnaire, blood sampling for biomarkers and genotyping, and contrast-enhanced CMR. Patients were followed up yearly by telephone and through records review regarding event documentation.
Main Outcomes and Measures The predefined composite adjudicated primary end point was time to first event for hypertrophic cardiomyopathy–related deaths; nonfatal sustained ventricular arrhythmias (VAs) requiring cardioversion or defibrillation; and left ventricular (LV) assist device implant or heart transplant. A secondary end point was a composite of sudden cardiac death and nonfatal VA events. The elastic-net method identified the most important predictors. Cox proportional hazards regression assessed associations with time to the first end point.
Results Of the 2750 prospectively enrolled patients, 2698 (98%) had analyzable data after 9 were excluded because they had hypertrophic cardiomyopathy phenocopies and 43 withdrew. Of these remaining patients, 1919 (71%) were male, mean age was 50 years (SD, 11 years), and 423 (16%) were from underrepresented racial and minority groups. The mean follow-up was 6.9 years (SD, 2.1 years). The primary event model in 104 patients included LV scar as a percentage of LV mass by late gadolinium enhancement (LGE%; hazard ratio [HR], 1.86; 95% CI, 1.58-2.20; P < .001), LV mass index (HR, 1.09; 95% CI, 1.01-1.17; P = .03), LV end-systolic volume index (HR, 1.28; 95% CI, 1.12-1.46; P < .001 ), all per 10-unit increase, history of heart failure at study entry (HR, 2.89; 95% CI, 1.75-4.77; P < .001), and log N-terminal pro–B-type natriuretic peptide (NT-proBNP; HR, 1.41; 95% CI, 1.17-1.70; P < .001) level per log unit, (C index for all, 0.77). An LGE percentage of the LV mass of 9% or higher substantially increased the primary composite event rate (P = .001). The secondary sudden cardiac death and VA risk factor model (in 69 patients) included LGE%, LV mass index, LV ejection fraction, and log(NT-proBNP) (C index, 0.76).
Conclusions and Relevance These results provide prospective evidence for incorporating cardiac magnetic resonance and NT-proBNP in the evaluation of patients with hypertrophic cardiomyopathy.
Trial Registration ClinicalTrials.gov Identifier: NCT01915615
