Janzen Mikyla L, Cheung Christopher, Sanatani Shubhayan, Cunningham Taylor, Kerr Charles, Steinberg Christian, Sherwin Elizabeth, Arbour Laura, Deyell Marc W, Andrade Jason G, Lehman Anna M, Gula Lorne J, Krahn Andrew D
Heart Rhythm Services, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
British Columbia Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Can J Cardiol. 2017 Jun;33(6):814-821. doi: 10.1016/j.cjca.2016.12.009. Epub 2016 Dec 20.
Inherited heart rhythm disorders (IHRDs) are complex and uncommon arrhythmogenic conditions that can lead to sudden unexpected death in seemingly healthy individuals. Multidisciplinary programs can assist in the diagnostic testing of potentially affected individuals and their family members.
Patients evaluated in a specialized adult and pediatric IHRD clinic between April 2013 and February 2015 were characterized. The total costs per evaluation and diagnosis were calculated. Patients were divided according to referral indication (primary referral or family member).
A total of 618 patients were evaluated (age 36 ± 21 years; 52% male), of which 274 (44%) were primary referrals and 344 (56%) were family members referred for cascade screening. Overall, 47% had at least 1 follow-up visit. Patients had a median of 3 tests; primary referrals required more tests (4 vs 2; P < 0.01). The median cost per patient was $1340 CAD. Evaluation of the primary referrals was costlier than family members ($3096 vs $983; P < 0.01). A definite or probable diagnosis was determined in 464 patients (77%), with no difference according to patient type (P = 0.18). The total cost per diagnosis was $4021 in primary referrals compared with $1277 in family members (P < 0.01).
Clinical evaluation of patients with suspected IHRD results in a high diagnostic yield and costs aligned with other complex disorders involving multidisciplinary clinics. Evaluation costs are expectedly higher in primary referrals compared with targeted family screening.
遗传性心律失常（IHRD）是复杂且罕见的致心律失常疾病，可导致看似健康的个体突然意外死亡。多学科项目有助于对潜在受影响个体及其家庭成员进行诊断检测。
对2013年4月至2015年2月期间在一家专门的成人及儿科IHRD诊所接受评估的患者进行特征描述。计算每次评估和诊断的总成本。根据转诊指征（首次转诊或家庭成员）对患者进行分组。
共评估了618例患者（年龄36±21岁；52%为男性），其中274例（44%）为首次转诊，344例（56%）为因级联筛查而转诊的家庭成员。总体而言，47%的患者至少进行了1次随访。患者平均进行了3次检查；首次转诊患者需要更多检查（4次对2次；P<0.01）。每位患者的中位成本为1340加元。首次转诊患者的评估成本高于家庭成员（3096加元对983加元；P<0.01）。464例患者（77%）确定了明确或可能的诊断，根据患者类型无差异（P=0.18）。首次转诊患者每次诊断的总成本为4021加元，而家庭成员为1277加元（P<0.01）。
对疑似IHRD患者的临床评估具有较高的诊断率，成本与涉及多学科诊所的其他复杂疾病相符。与有针对性的家族筛查相比，首次转诊患者的评估成本预计更高。
