Yield from family screening in a national adolescent cardiac screening program. (14th October 2021)

• Record Type: Journal Article
• Authors: Abela, M; Debattista, J; Yamagata, K; Felice, T; Burg, M; Sammut, M A; Xuereb, R G; Grech, V; Monserrat, L; Papadakis, M
• Is Part Of: European heart journal. Volume 42(2021)Supplement 1
• Publication Date: 2021-10-14
• Subjects: Sports Cardiology; Cardiology -- Periodicals; Heart -- Diseases -- Periodicals; 616.12005
• DOI: 10.1093/eurheartj/ehab724.2704
• Languages: English
• ISSNs: 0195-668X

Abstract

Abstract: Introduction: Cascade family screening in patients with confirmed or suspected inherited cardiac disorders is now well established. This may refute or confirm a familial clinical diagnosis and is particularly relevant in young adolescent individuals as it may be too early to manifest a distinct phenotype. Objectives: A large cohort of 2708 adolescents aged 14–16 years gave consent to participate in a national cardiac screening program (BEAT-IT). Individuals with suspected inherited cardiac disorders were extensively evaluated. Their relatives were also invited to undergo screening. This study reports the yield of this family cardiac screening program. Methodology: Family members of probands with suspected or confirmed inherited cardiac conditions were offered cardiac screening. A standard clinical screening protocol for all first-degree family members included a resting 12-lead ECG and echocardiogram. Those with a channelopathy suspicion also underwent postural ECGs and exercise testing. Screening second-degree relatives was also performed in a cascade fashion when clinically indicated. Relatives with a normal baseline screen were offered surveillance if younger than 25 years or a proband clinical diagnosis. Those with an abnormal ECG and/or echocardiogram were referred for further evaluation. Results: 17 probands (63% females) were suspected of harbouring inherited heart disease. Another 2 were diagnosed with a clinical phenotype. The mean age was 15.3±0.58 years. All were Caucasian. 77 family members underwent cardiac screening, with a mean age of 42.5±16.43 at first evaluation. The majority were female (n=44, 57.1%). 12 (15.6%) had an abnormal ECG. 6 (7.8%) had an abnormal echocardiogram, with 2 (2.6%) consistent with cardiomyopathy. 8 (10.4%) were diagnosed with an inherited cardiac condition (n=2 HCM, n=1 DCM, n=5 LQTS). Another 7 (9.1%) are under surveillance because of a pathological ECG in the absence of a clinical phenotype. The highest clinical yield was in the Long QT group (n=5, 55.6%). Family members (n=25) referred because of proband lateral TWI were the second most likely to require clinical follow-up because of a pathological ECG or a clinical diagnosis (n=7, 28.0%). Relatives referred because of isolated anterior TWI on the proband's ECG had the lowest diagnostic yield (n=17, 0%). After excluding families of probands with isolated anterior TWI (n=18), the overall clinical yield increased to 13.6%. Another 11.9% are under surveillance because of a pathological ECG. Conclusion: The yield of family screening as part of a national cardiac screening program was 10.4%. This increases to 13.6% when excluding probands with anterior TWI, with 11.9% under surveillance because of a pathological ECG. To our knowledge, this is the first such study of its kind. Funding Acknowledgement: Type of funding sources: Public hospital(s). Main funding source(s): Beating Hearts MaltaResearch, Innovation and Development Trust (University of Malta)