2013年美国心力衰竭管理指南(心衰指南)-英文

development and progression of HF in patients with cardiomyopathies; we do not wish to redefine new classification strategies for cardiomyopathies.

5.1.2. Epidemiology and Natural History of DCM

The age-adjusted prevalence of DCM in the United States averages 36 cases per 100,000 population, and DCM accounts for 10,000 deaths annually (106). In most multicenter RCTs and registries in HF, approximately 30% to 40% of enrolled patients have DCM (107-109). Compared with whites, African Americans have almost a 3-fold increased risk for developing DCM, irrespective of comorbidities or socioeconomic factors (108-110). Sex-related differences in the incidence and prognosis of DCM are conflicting and may be confounded by differing etiologies (108, 109, 111). The prognosis in patients with symptomatic HF and DCM is relatively poor, with 25% mortality at 1 year and 50% mortality at 5 years (112). Approximately 25% of patients with DCM with recent onset of HF symptoms will improve within a short time even in the absence of optimal GDMT (113), but patients with symptoms lasting >3 months who present with severe clinical decompensation generally have less chance of recovery (113). Patients with idiopathic DCM have a lower total mortality rate than patients with other types of DCM (114). However, GDMT is beneficial in all forms of DCM (78, 109, 115-117).

5.2. Familial Cardiomyopathies

Increasingly, it is recognized that many (20% to 35%) patients with an idiopathic DCM have a familial

cardiomyopathy (defined as 2 closely related family members who meet the criteria for idiopathic DCM) (118, 119). Consideration of familial cardiomyopathies includes the increasingly important discovery of

noncompaction cardiomyopathies. Advances in technology permitting high-throughput sequencing and

genotyping at reduced costs have brought genetic screening to the clinical arena. For further information on this topic, the reader is referred to published guidelines, position statements, and expert consensus statements (118, 120-123) (Table 5).

Table 5. Screening of Family Members and Genetic Testing in Patients With Idiopathic or Familial DCM Condition

Familial DCM Screening of Family Members First-degree relatives not known to be

affected should undergo periodic, serial

echocardiographic screening with assessment

of LV function and size.

Frequency of screening is uncertain, but

every 3-5 y is reasonable (118).

Patients should inform first-degree relatives

of their diagnosis.

Relatives should update their clinicians and

discuss whether they should undergo

screening by echocardiography. Genetic Testing Genetic testing may be considered in conjunction with genetic counseling (118, 121-123). Idiopathic DCM The utility of genetic testing in this setting remains uncertain. Yield of genetic testing may be higher in patients with significant cardiac conduction disease and/or a family

history of premature sudden cardiac

death (118, 121-123).

DCM indicates dilated cardiomyopathy; and LV, left ventricular.