Clinical course and outcomes of patients with hypertrophic cardiomyopathy prior to evaluation at a comprehensive hypertrophic cardiomyopathy center
A Leslie, L Rushkin, R Bhatia, N RezaAbstract
Background
Referral to a comprehensive hypertrophic cardiomyopathy (HCM) center is reasonable to aid in complex disease-related management decisions, per guidelines. There are limited data regarding clinical characteristics and trajectories of patients with HCM prior to evaluation at a comprehensive HCM center. We sought to explore the experience of patients with HCM at the time of initial referral to a comprehensive United States HCM center.
Methods
Single center retrospective analysis of consecutive HCM probands seen for an initial clinical visit between March 2017 and July 2025. Data regarding clinical characteristics and treatment course through the time of this visit were extracted. Baseline characteristics were reported as median (interquartile range [IQR]) for non-normally distributed continuous variables and frequencies and percentages for categorical variables.
Results
Of 474 probands, median age at first visit to our comprehensive HCM center was 56.2 years (IQR 44.9, 64.9), 44.9% were female, and 65.4% were self-reported White. 51.1% had obstructive HCM, 46.4% were nonobstructive. Of those with a known cardiomyopathy phenotype, 71.1% had asymmetric septal left ventricular hypertrophy (LVH), 21.1% had apical LVH, and 5.7% had concentric LVH. Most common presenting cardiac sign/symptom was a murmur (27.2%), followed by abnormal electrocardiogram (19.4%), shortness of breath (14.1%), chest pain (13.9%), palpitations (9.7%), syncope (7.2%), or presyncope (3.2%). 10.8% were already known to be genotype-positive for a pathogenic/likely pathogenic HCM variant. First cardiac sign/symptom occurred at median 5.0 years prior to HCM diagnosis (IQR -18.4, -0.2). At least one HCM-related major adverse cardiovascular event (MACE) (defined as atrial or ventricular arrhythmia requiring treatment, syncope, sudden cardiac arrest, stroke, heart failure, or urgent evaluation for chest pain) had occurred in 58.2% by the time of this visit.
Conclusions
In this cohort, the majority of patients experienced HCM-related MACE prior to their evaluation at a comprehensive HCM center. Strategies to optimize care delivery and minimize adverse outcomes in these patients are needed.