Electrocardiogram screening programme in detecting sudden cardiac disease in the young: cost efficiency and diagnostic yield—Authors’ reply

EP Europace ◽  
2021 ◽  
Author(s):  
Harshil Dhutia ◽  
Aneil Malhotra ◽  
Gherardo Finocchiaro ◽  
Sameer Parpia ◽  
Raghav Bhatia ◽  
...  
Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Pier D Lambiase ◽  
Juan C Kaski ◽  
Eileen Firman ◽  
Perry M Elliott ◽  
Akbar K Ahmed ◽  
...  

Introduction: Sudden arrhythmic death syndrome (SADS) arises through disorders of ion channel function or structural heart disease. It accounts for over 400 deaths in the UK per annum. To date there has been no comprehensive analysis of the diagnostic yield and efficacy of a family screening approach in SADS index cases where the post mortem heart is structurally normal after expert pathological review. Methods: 118 SADS families where the SADS victim died between 1 and 35 years of age were evaluated in a systematic family screening programme between 2003–2006. All SADS index cases had a structurally normal heart after expert review of all available tissue. All studied relatives underwent resting, signal averaged ECG, 24h Holter, exercise ECG with V0 2 max, transthoracic echocardiography and an ajmaline challenge test after initial clinical screening. Systematic mutation analysis was performed on the known long QT (LQT)genes including SCN5A & ryanodine receptor/ARVC genes when clinically suspected. Results: The most common modes of death were rest in 28%, sleep in 25% and exercise in 18%. Clinical screening identified an inherited electrical cause of SADS in 41 of the 118 families (35%)-20 Brugada, 18 LQT Syndrome, 3 Catecholiminergic Polymorphic Ventricular Tachycardia (CPVT). Structural heart disease was identified in 5 ARVC & 2 DCM families. 26 ICDs have been implanted in affected family members-4 LQTS, 7 Brugada, 2 CPVT, 2 ARVC, 2 DCM and 9 on clinical grounds without a definitive diagnosis. The ECG (37%) and ajmaline challenge test (49%) had the highest diagnostic yield in families with a positive diagnosis. To date, genetic testing has increased the diagnostic yield by 5% (6/118 families-2 KCNQ1, 1 HERG, 2 SCN5A, 1 ARVC ), confirming a clinical diagnosis in 6.6%–3 KCNQ1, 3 SCN5A, 1 HERG, 1 KCNH2. Conclusions: Systematic clinical screening in relatives of SADS victims has a diagnostic yield of 35% increasing to 40% with genetic testing. Electrical causes of SADS predominate in these families. These findings demonstrate that a systematic clinical screening programme in SADS families is both achievable and effective. The full impact of gene testing (including RyR mutations) upon diagnostic yield is awaited.


EP Europace ◽  
2020 ◽  
Vol 22 (6) ◽  
pp. 964-971 ◽  
Author(s):  
Benjamin Lautrup Hansen ◽  
Elisabeth Mütze Jacobsen ◽  
Amalie Kjerrumgaard ◽  
Jacob Tfelt-Hansen ◽  
Bo Gregers Winkel ◽  
...  

Abstract Aims International guidelines recommend cardiogenetic screening in families with sudden cardiac death (SCD) if the suspected cause is an inherited cardiac disease. The aim was to assess the diagnostic yield of inherited cardiac diseases in consecutively referred SCD families. Methods and results In this single-centre retrospective study, we consecutively included families referred to our tertiary unit between 2005 and 2018 for screening due to SCD. Following evaluation of premortem medical records and postmortem findings for the proband, the families underwent a guideline-based screening protocol. Relatives were followed and cardiovascular events registered. In total, 304 families with 695 relatives were included. In probands, mean age at death was 39 years (75% males) and in relatives mean age at screening was 35 years (47% males). The proband-diagnosis was established through autopsy findings (n = 89), genetic analyses (n = 7), or based on premortem findings (n = 21). In the remaining 187 families with borderline/no diagnosis in the proband, screening of relatives yielded a diagnosis in 26 additional families. In total, an inherited cardiac disease was identified in 143 out of 304 families (47%). In relatives, 73 (11%) were diagnosed. Arrhythmogenic right ventricular cardiomyopathy (n = 16) was the most common diagnosis. During follow-up (mean 5.5 years), a low rate of serious cardiac events was observed (no SCD events). Conclusion Forty-seven percent of SCD families were diagnosed. Eleven percent of the screened relatives received a definite diagnosis and were offered treatment according to guidelines. A low rate of serious cardiovascular events was observed among SCD relatives.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Kjerrumgaard ◽  
E M Jacobsen ◽  
B L Hansen ◽  
B G Winkel ◽  
A H Christensen ◽  
...  

Abstract Background Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims (<50 years) to protect the surviving relatives by pre-symptomatic interventions, in case the SCD was due to an inherited cardiac disorder. The etiology is an inherited cardiac disease in about 50% of young SCD cases. The work-up of relatives is generally guided by findings in the SCD victim. If post-mortem examinations (autopsies) have not been performed the work-up of relatives is challenged. The diagnostic hit-ratio of screening of relatives under these circumstances is unclear. Purpose To assess the diagnostic yield of inherited cardiac diseases of cardiac work-up in relatives of SCD victims, where no autopsy had been performed. Methods This retrospective study consecutively included families referred to our tertiary referral centre, specialised in hereditary cardiac diseases, during the period 2005 to 2018 due to SCD in the family. No autopsy had been performed in any of the SCD victims. The relatives underwent standard cardiac work-up according to guidelines. Based on the findings in the relatives the families were categorised into: 1) definite diagnosis, 2) borderline diagnosis or 3) undiagnosed. Results We assessed 149 relatives (43±16 age, 48% men) to 84 SCD un-autopsied cases (44±11 age, 79% men). In 11 (13%) families a definite diagnosis was established, in 8 (10%) families a borderline diagnosis was found and the remaining 65 (77%) families remained undiagnosed. The most common diagnosis was premature IHD (36%) followed by cardiomyopathies (27%) and channelopathies (27%). A disease-causing mutation was identified in 3 families out of 15 genetically examined families. Conclusion Systematic cardiac work-up of relatives to not-autopsied SCD victims, revealed a definite hereditary cardiac disease in 13% of the referred families, and a borderline diagnosis in additionally 10% of the families. Despite a reduced diagnostic yield in family members of non-autopsied SCD victims, work-up of relatives is clearly still justified.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
B L Hansen ◽  
E M Jacobsen ◽  
A Kjerrumgaard ◽  
B G Winkel ◽  
A C Christensen ◽  
...  

Abstract Background International guidelines recommend screening of relatives in families with sudden cardiac death (SCD) if the cause of death is suspected to be an inheritable cardiac disease. The inheritable cardiac diagnosis may either have been known before the death, established at the autopsy or identified through screening of relatives. Purpose To provide an estimate of the diagnostic yield of inherited cardiac disease in SCD victims. Methods In an observational study, we included all families consecutively referred to our tertiary unit for inheritable cardiac diseases in the period from 2005 to 2018 due to SCD. Families with SCD victims under 1 year of age were excluded. In total, 697 relatives from 305 families were included and all relatives underwent a standard screening protocol, which included clinical and genetic work-up. Premortem medical records and postmortem findings on the SCD victim were ascertained whenever possible. Results A definite inheritable cardiac disease was identified in 113 out of 305 SCD families prior to family screening. The diagnosis was established through autopsy findings (n=89), genetic analysis (n=3) or was established prior to death (n=21). In the remaining 192 families with no or a borderline diagnosis only, screening of the relatives yielded a diagnosis in additional 28 families (15%). On a family-basis, a total of 141 out of 305 families (46%) were diagnosed. Seventy-seven (11%) out of the 697 screened relatives received either a phenotype-positive and/or genotype-positive inheritable diagnosis and 70 (10%) relatives received a borderline diagnosis. The most common diagnoses in the relatives were ARVC (n=17) followed by DCM (n=10) (see figure). Conclusion Almost half of SCD families were diagnosed with an inheritable cardiac disease of which one fifth of the families were diagnosed as a result of family screening. In 11% of the screened relatives a probable inheritable diagnosis was identified.


2013 ◽  
Vol 49 (12) ◽  
pp. 2727-2733 ◽  
Author(s):  
S. Hamza ◽  
V. Dancourt ◽  
C. Lejeune ◽  
J.M. Bidan ◽  
C. Lepage ◽  
...  

2020 ◽  
Vol 122 (12) ◽  
pp. 1865-1871
Author(s):  
Victorine H. Roos ◽  
Frank G. J. Kallenberg ◽  
Manon van der Vlugt ◽  
Evelien J. C. Bongers ◽  
Cora M. Aalfs ◽  
...  

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