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Hypertrophic Cardiomyopathy and Sudden Cardiac Arrest Associated with a PSEN1 Variant: A Case Report
Natsuko Inagaki1,2, Yasuyoshi Takei1, Junichi Kamoshida1
1Department of Cardiology, Tokyo Medical University, Japan.
Internal Medicine (Tokyo, Japan)
|June 3, 2026
Summary
This study reports a rare case of sudden cardiac arrest in a patient with a presenilin 1 (PSEN1) variant, suggesting a novel cardiac manifestation. Cardiovascular issues may appear before neurodegeneration in individuals with PSEN1 variants.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Presenilin 1 (PSEN1) variants are typically linked to early-onset Alzheimer's disease.
- Emerging research indicates a potential role for PSEN1 in cardiomyopathy, separate from amyloid pathology.
- Hypertrophic cardiomyopathy (HCM) is a significant cardiac condition with genetic underpinnings.
Purpose of the Study:
- To document a novel cardiac manifestation of presenilin 1 (PSEN1) dysfunction.
- To explore the potential for cardiovascular symptoms to precede neurodegeneration in PSEN1 variant carriers.
- To expand the understanding of the phenotypic spectrum associated with PSEN1 variants.
Main Methods:
- Case report of a 46-year-old Japanese man with hypertrophic cardiomyopathy.
- Genetic analysis identifying a heterozygous PSEN1 c.367G>A (p.Glu123Lys) variant.
- Clinical assessment of cardiac events and cognitive function.
Main Results:
- The patient experienced sudden cardiac arrest due to ventricular fibrillation at age 56.
- The patient had normal cognition at the time of genetic diagnosis.
- This case highlights a novel cardiac presentation of PSEN1 dysfunction.
Conclusions:
- PSEN1 variants may be associated with cardiac manifestations, including hypertrophic cardiomyopathy and sudden cardiac arrest.
- Cardiovascular symptoms might precede neurological decline in individuals with PSEN1 variants.
- Further research is warranted to investigate cardiac risks in PSEN1 variant carriers.
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