Heart failure & cardiomyopathies
Genetics, Cardiac Phenotype and Cardiovascular Outcomes in Fabry Disease Patients in Finland
Authors' conclusion
In Finland, FD is caused by multiple GLA variants. Classic phenotype is more common. Contrasting previous studies, most women are symptomatic. Cardiomyopathy is very common also in women since their 40s and associates with atrial fibrillation, HF, stroke and death, emphasizing the malignant natural course of FC.
Study context
- Population
- Patients with Fabry disease diagnosed in Finland by 2018of 109 diagnosed
- Participants
- 97 patients
- Exposure
- Males vs Females
- Malesn = 32
- Femalesn = 65
- Outcome
- Fabry cardiomyopathy (max LV wall thickness ≥13 mm, or increased cardiac mass and decreased T1, or typical late gadolinium enhancement (LGE) in CMR)
- Follow-up
- Mean 12 years
Methodological detailsnationwide registry and medical records
- Nationwide registry and medical records
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
| Outcome | Males |
|---|---|
| Male phenotype | |
| Classic | 19 (59%) |
| Late-onset | 10 (31%) |
| Intermediate | 3 (9%) |
- Symptomatic females
- 95% · 62 of 65
GLA variants
- 26 families harboured 22 different GLA variants, most commonly p.R227X, p.A143T or p.P409A
CV outcomes in patients with fabry cardiomyopathy (FC) (n = 53)
- AF
- 16 (30%)
- Stroke
- 17 (32%)
- Heart failure (HF)
- 14 (26%)
- End-stage renal disease
- 3 (6%)
Deaths during follow-up
- Deaths (mean age 48 y males, 75 y females)
- 9
- Died from HF
- 3
- Died from stroke
- 3
- Deaths with cardiomyopathy
- 8
Original publication
Genetics, Cardiac Phenotype and Cardiovascular Outcomes in Fabry Disease Patients in Finland. ESC Heart Fail. Published 21 July 2025. doi:10.
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