이달의 증례
| Genotype-Driven Prognostication in Dilated Cardiomyopathy | |||
|---|---|---|---|
| 년도 | 2026년 5월 | ||
| 카테고리 | 이달의 kcj Hot Article | ||
| 저자 | David Hong, MD,1,* Young-Gon Kim, MD,2,* Seung Hyeok Bang, MD,1 Minseok Hong, MD,1 Heayoung Shin, MD,1 Ju Hyeon Shin, MD,2 Oksoon Jeong, MBA,3 Minjung Bak, MD,1 Darae Kim, MD, PhD,1 Jihoon Kim, MD, PhD,1 Mi-Ae Jang, MD, PhD,2 and Jin-Oh Choi, MD, PhD1 | ||
| 소속 | 1Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. 3Department of Data Service Team, Office of Data & Digital Transformation, Samsung Medical Center, Seoul, Korea. | ||
| 첨부파일 1 | kcj-56-422-abf001.jpg | ||
- 관리자
- 등록일 : 2026.06.08
- Hit 250
Background and Objectives
Dilated cardiomyopathy (DCM) has a variable prognosis and generally poor outcomes. Genetic testing could identify high-risk patients. This study aimed to evaluate the prognostic impact of genetic testing in patients with DCM.
Methods
This retrospective study included consecutive patients with DCM who underwent targeted panel sequencing or whole genome sequencing at Samsung Medical Center from 2018 to 2023. Patients were divided into genotype-positive and genotype-negative groups based on the presence of pathogenic or likely pathogenic variants. The primary outcome was a composite of cardiac death, heart transplantation, and left ventricular assist device implantation at 5 years. The primary outcome was compared according to the results of genetic testing.
Results
In total, 239 patients were analyzed and followed for a median of 2.6 years. Among the patients, 79 (33.1%) were genotype-positive, and 160 (66.9%) were genotype-negative. The genotype-positive group had a significantly higher risk of the primary outcome than the genotype-negative group (hazard ratio, 1.80; confidence interval, 1.10–2.95; p=0.020). Further dividing genotype-negative patients based on the presence of a variant of uncertain significance (VUS) revealed a stepwise increase in the incidence of the primary outcome among the 3 groups (no variant 22.3%, VUS 43.9%, genotype-positive 42.9%; overall log-rank p=0.032). Also, the incidence of the primary outcome differed significantly in genotype-positive patients according to the affected functional gene group (overall log-rank p=0.003).
Conclusions
Patients with DCM exhibited varying prognoses according to genotype. Further research is needed to refine risk stratification and the clinical application of genetic testing in DCM.
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