Yield from family screening in a national adolescent cardiac screening program
Authors: Abela M , Debattista J , Yamagata K , Felice T , Burg M , Sammut M A , Xuereb R G , Grech V , Monserrat L , Papadakis M 
Published: October 2021

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)