医学
无症状的
先证者
心肌病
心脏病学
内科学
心源性猝死
家族史
疾病
无症状携带者
门诊部
心脏病
心力衰竭
儿科
突变
化学
基因
生物化学
作者
Ewa Kowalik,Elżbieta K. Włodarska,Olgierd Woźniak,Piotr Hoffmań
出处
期刊:Kardiologia Polska
[Polskie Towarzystwo Kardiologiczne]
日期:2007-12-01
卷期号:65 (12): 1442-1446
摘要
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease associated with fibrofatty tissue replacement in heart muscle leading to arrhythmia, heart failure or sudden death (SCD) often being the first manifestation in probands. At least 50% of cases of ARVC are inherited. Aim: To evaluate costs and cost-effectiveness of diagnosis of the disease in asymptomatic relatives in Poland. Methods: 239 asymptomatic subjects (mean age 35 years, 120 male) belonging to 42 families affected with ARVC were examined between May 2003 and May 2005. The costs of outpatient visits and additional diagnostic tests were included. Payer perspective was used. Results: In all individuals ECG and transthoracic echocardiography were performed. Magnetic resonance imaging and signal-averaged ECG were performed in 35 patients suspected of having ARVC. The diagnostic criteria for ARVC were fulfilled in 29 patients and 57 subjects were recognised borderline. Total costs of screening amounted to 71 090 PLN (approximately 20 000 euro). The average cost per one case of detected ARVC was 2451 PLN (approximately 680 euro).
Conclusions: Costs of early detection of ARVC in individuals with a family history of the disease in Polish settings are low. Due the avilability of primary prevention of SCD the family screening in asymptomatic subjects is a cost-effective procedure.
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