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The Long-Term Clinical Progression of Genotype-Positive/Phenotype-Negative Patients With Hypertrophic Cardiomyopathy
Veronika Puchnerova1, Michael Jensovsky1, Veronika Zoubkova2
1Department of Cardiology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
The American Journal of Cardiology
|February 27, 2026
Summary
Individuals with genetic variants for hypertrophic cardiomyopathy (HCM) but no symptoms (G+/P-) showed increased heart wall thickness over time. A significant percentage (26%) progressed to HCM, highlighting the need for regular monitoring.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
- Identifying pathogenic variants (G+) in relatives is possible, but the risk for genotype-positive/phenotype-negative (G+/P-) individuals is unclear.
Purpose of the Study:
- To track the long-term clinical progression of G+/P- individuals.
- To assess the risk of developing left ventricular hypertrophy (LVH) or HCM-related events in this cohort.
Main Methods:
- Recruited G+/P- individuals from HCM patient relatives.
- Conducted regular clinical assessments, ECGs, and transthoracic echocardiography (TTE) over a mean follow-up of 6.6 years.
- Defined G+/P- status by maximal left ventricular wall thickness (MLVWT) <13 mm and confirmed variants via Sanger sequencing.
Main Results:
- Mean MLVWT increased significantly from 9.6 mm to 10.7 mm (p=0.01) over follow-up.
- 26% of G+/P- individuals developed LVH after a mean of 5.1 years.
- Most participants remained asymptomatic with normal ECGs, but one experienced ventricular tachycardia.
Conclusions:
- G+/P- individuals, often young and asymptomatic, have a substantial risk (26%) of progressing to HCM.
- Regular TTE and ECG surveillance are crucial for early detection of disease progression and risk stratification in G+/P- individuals.
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