We read with interest the article by Puchnerova et al entitled “The Long-Term Clinical Progression of Genotype Positive/Phenotype Negative Patients with Hypertrophic Cardiomyopathy”, which provides serial clinical and imaging data in hypertrophic cardiomyopathy (HCM) genotype‑positive/phenotype‑negative (G+/Phen−) individuals.
While the topic is clinically important, progression from a G+/Phen− state to overt HCM has been already documented across longitudinal studies, including our own recent work. , Therefore, consideration of the existing literature is essential to define the incremental novelty of the present study.
We also observed that the study design, cohort characteristics, and echocardiographic parameters evaluated over time closely parallel those examined in our recent longitudinal study, “Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers.” Both studies followed sarcomere mutation carriers and assessed an almost identical set of longitudinal conventional echocardiographic parameters. In addition, our study incorporated advanced echocardiographic techniques, such as global longitudinal strain (GLS) and strain rate during isovolumic relaxation (SRIVR), which proved particularly sensitive for detecting subclinical myocardial dysfunction not captured by standard imaging, years before the development of left ventricular hypertrophy (LVH). Given the established clinical value of strain‑based imaging in detecting early, subclinical disease, these highly sensitive measures provide key additional insight to the conventional echocardiographic findings of Puchnerova et al.
Accordingly, our aim is to place the paper in the context of pertinent prior studies and to highlight the emerging role of sensitive imaging modalities in early disease detection among HCM sarcomere mutation carriers.
CRediT authorship contribution statement
Raffaella Lombardi: Conceptualization. Grazia Canciello: Visualization, Writing– review & editing. Leopoldo Ordine: Visualization.
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