Background:The clinical characteristics and prognostic outcomes of dilated cardiomyopathy (DCM) with a familial history (FHx) via pedigree analysis are unclear.

Methods and Results:We conducted a prospective observational study of 514 consecutive Japanese patients with DCM. FHx was defined as the presence of DCM in ≥1 family member within 2-degrees relative based on pedigree analysis. The primary endpoint was a composite of major cardiac events (sudden cardiac death and pump failure death). The prevalence of FHx was 7.4% (n=38). During a median follow-up of 3.6 years, 77 (15%) patients experienced a major cardiac event. Multivariable Cox regression analysis identified FHx as independently associated with major cardiac events (hazard ratio [HR] 4.32; 95% confidence interval [CI], 2.04–9.19; P<0.001) compared with conventional risk factors such as age, QRS duration, and left ventricular volume. In the propensity score-matched cohort (n=38 each), the FHx group had a significantly higher incidence of major cardiac events (HR, 4.48; 95% CI, 1.25–16.13; P=0.022). In addition, the FHx group had a higher prevalence of a diffuse late gadolinium enhancement (LGE) pattern than the no-FHx group (32% vs. 17%, P=0.022).

Conclusions:DCM patients with FHx had a worse prognosis, which was associated with a higher prevalence of a diffuse LGE pattern, than patients without FHx.

背景：通过血统分析，具有家族史（FHx）的扩张型心肌病（DCM）的临床特征和预后尚不清楚。

方法和结果：我们对514名日本连续性DCM患者进行了前瞻性观察研究。根据谱系分析，FHx被定义为DCM中相对于≥1个家庭成员存在2度以内。主要终点是主要心脏事件（心脏猝死和泵衰竭死亡）的综合。FHx的患病率为7.4％（n = 38）。在3.6年的中位随访期间，有77名（15％）患者经历了严重的心脏事件。与常规风险因素（例如年龄，QRS持续时间和年龄）相比，多变量Cox回归分析确定FHx与主要心脏事件（危险比[HR] 4.32； 95％置信区间[CI]，2.04–9.19； P <0.001）独立相关。左心室容积。在倾向得分匹配的队列中（每组n = 38），FHx组的主要心脏事件（HR，4.48; 95％CI，1.25–16.13；P = 0.022）。此外，FHx组的弥散晚期late增强（LGE）模式的患病率高于非FHx组（32％vs. 17％，P = 0.022）。

结论：与没有FHx的患者相比，患有FHx的DCM患者的预后较差，这与弥散LGE模式的患病率更高有关。