Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy
Dilated cardiomyopathy can be caused by many different gene mutations, and the specific gene involved can influence how the disease develops and how it progresses. However, it hasn’t been clear whether men and women with different genetic forms of DCM have different long-term outcomes. This study sets out to explore exactly that. Researchers looked back at medical records from four major international centers, following patients with DCM over several years (on average about 7 years). The patients included were grouped based on the type of gene involved (for example, some genes affect the heart’s structure while other genes affect movement of the heart muscle). The study included more than 1,700 people with DCM of which two-thirds were men, and one-third of all had a genetic variant. Women showed different patterns of heart recovery depending on which gene was affected. For example, women with mutations in the TTN gene tended to show the most improvement, while those with desmosomal gene changes showed the least. This effect was not so clear in men. When looking at long-term outcomes, men with genetic variants had the highest risk of developing dangerous complications such as hospitalization or a life-threatening heart rhythm compared with women who had no genetic variant. Among men, the gene involved made a big difference on the risk of complications: certain gene groups (especially those affecting the part of a heart muscle cell’s center (nucleus) that helps it contract) were linked to the highest risks. In women, the gene involved did not change long-term prognosis. Overall, the study shows that both sex and genetics play important roles in how DCM progresses. This means that doctors should consider both factors when evaluating patients and predicting their long-term outlook.
Paper: Stroeks SLVM, Merlo M, Mora-Ayestaran N, Jason M, Tayal U, Wang P, Cannatà A, Sikking MA, Dal Ferro M, Peiro B, Willemars M, Hellebrekers DMEI, van Leeuwen REW, Setti M, Gonzalez-Lopez E, Krapels IPC, Pio Loco Detto Gava C, van den Wijngaard A, Henkens MTHM, Iseppi M, Raafs AG, Hoes MF, van Empel VPM, Jones EAV, Nabben M, Taylor M, Brunner HG, Ochoa JP, Dominguez F, Lakdawala NK, Sinagra G, Garcia-Pavia P, Mestroni L, Heymans SRB, Verdonschot JAJ. Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy.
Circ Heart Fail. 2025 Sep 24:e012592. doi:
10.1161/CIRCHEARTFAILURE.124.012592. Epub ahead of print. PMID: 40988625.
Prepared by: JAJ Verdonshot and Ruth Biller