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Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency
Clarisse Billon1, Gilles Millat2,3, Adeline Goudal4
1Service de Médecine Génomique Des Maladies Rares, Groupe Hospitalier Universitaire Centre, Hôpital Européen Georges Pompidou, 75015APHP, Paris, France. clarisse.billon@aphp.fr.
Journal of Molecular Medicine (Berlin, Germany)
|September 11, 2025
Summary
Loss-of-function variants in the PRDM16 gene cause dilated cardiomyopathy and cardiac hypertrabeculation. Females with these genetic variants show more severe symptoms and earlier onset, suggesting PRDM16 screening for cardiomyopathies.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- PRDM16 loss-of-function (LoF) variants are implicated in cardiomyopathies.
- Previous reports highlight several cases linked to PRDM16 LoF variants.
Purpose of the Study:
- To present the largest cohort of dilated cardiomyopathy (DCM) patients with PRDM16 LoF variants.
- To investigate the clinical phenotype and prognosis associated with PRDM16 haploinsufficiency.
Main Methods:
- Multi-centric study involving 4900 index cases with DCM and/or hypertrabeculation.
- Targeted next-generation sequencing of 59 genes, including PRDM16.
- Analysis of genetic variants and clinical data from affected families.
Main Results:
- Eleven previously unreported cases of cardiomyopathy associated with PRDM16 LoF variants were identified in nine families.
- Patients presented with DCM (10 cases) and hypertrabeculation (6 cases), with median ages of 18.5 years for females and 49 years for males.
- Females, particularly pediatric cases, exhibited a poorer prognosis with earlier onset and more severe phenotypes.
Conclusions:
- PRDM16 haploinsufficiency is a significant cause of dilated cardiomyopathy and cardiac hypertrabeculation.
- Females present with more severe phenotypes and earlier disease onset.
- Systematic screening of PRDM16 is recommended for patients with DCM or symptomatic cardiac hypertrabeculation.
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