Corrigendum to: Diagnostic yield and financial implications of a nationwide electrocardiographic screening program to detect cardiac disease in the young [Europace 2021; doi:10.1093/europace/euab021]

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. FUNDunding Acknowledgement Type of funding sources: Public hospital(s). Main funding source(s): Beating Hearts MaltaResearch, Innovation and Development Trust (University of Malta)

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Diagnostic yield in victims of sudden cardiac death and their relatives

EP Europace ◽

10.1093/europace/euaa056 ◽

2020 ◽

Vol 22 (6) ◽

pp. 964-971 ◽

Cited By ~ 2

Author(s):

Benjamin Lautrup Hansen ◽

Elisabeth Mütze Jacobsen ◽

Amalie Kjerrumgaard ◽

Jacob Tfelt-Hansen ◽

Bo Gregers Winkel ◽

...

Keyword(s):

Sudden Cardiac Death ◽

Cardiac Disease ◽

Cardiac Death ◽

Cardiovascular Events ◽

Diagnostic Yield ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Cardiac Events ◽

Common Diagnosis ◽

Inherited Cardiac Disease ◽

Low Rate

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.

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P2830Clinical and genetic findings in relatives to young sudden cardiac death victims without post-mortem examination (autopsy)

European Heart Journal ◽

10.1093/eurheartj/ehz748.1140 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

A Kjerrumgaard ◽

E M Jacobsen ◽

B L Hansen ◽

B G Winkel ◽

A H Christensen ◽

...

Keyword(s):

Sudden Cardiac Death ◽

Cardiac Disease ◽

Cardiac Death ◽

Diagnostic Yield ◽

Cardiac Diseases ◽

Post Mortem ◽

Definite Diagnosis ◽

Cardiac Work ◽

Borderline Diagnosis ◽

Work Up

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.

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P5026Diagnostic yield in victims of sudden cardiac death and their relatives

European Heart Journal ◽

10.1093/eurheartj/ehz746.0204 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

B L Hansen ◽

E M Jacobsen ◽

A Kjerrumgaard ◽

B G Winkel ◽

A C Christensen ◽

...

Keyword(s):

Sudden Cardiac Death ◽

Cardiac Disease ◽

Cardiac Death ◽

Diagnostic Yield ◽

Family Screening ◽

Screening Protocol ◽

Borderline Diagnosis ◽

Cardiac Diagnosis ◽

Work Up ◽

Inherited Cardiac Disease

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.

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Diagnostic yield of early repeat colonoscopy after suboptimal bowel preparation in a fecal immunochemical test-based screening program

Endoscopy ◽

10.1055/a-1191-3011 ◽

2020 ◽

Vol 52 (12) ◽

pp. 1093-1100 ◽

Cited By ~ 1

Author(s):

Sandra Baile-Maxía ◽

Carolina Mangas-Sanjuan ◽

Lucía Medina-Prado ◽

Juan Martínez-Sempere ◽

Oscar Murcia ◽

...

Keyword(s):

Bowel Preparation ◽

Screening Program ◽

Diagnostic Yield ◽

Fecal Immunochemical Test ◽

High Rate ◽

Screening Colonoscopy ◽

Advanced Adenoma ◽

Adenoma Detection ◽

Immunochemical Test ◽

Repeat Colonoscopy

Abstract Background Current guidelines regarding surveillance after screening colonoscopy assume adequate bowel preparation. However, follow-up intervals after suboptimal cleansing are highly heterogeneous. We aimed to determine the diagnostic yield of early repeat colonoscopy in patients with suboptimal bowel preparation in fecal immunochemical test (FIT)-based screening colonoscopy. Methods An observational study including patients who underwent colonoscopy with suboptimal bowel preparation after positive FIT screening and then repeat colonoscopy within 1 year. Suboptimal preparation was defined as a Boston Bowel Preparation Scale (BBPS) score of 1 in any segment. Patients with a BBPS score of 0 in any segment or incomplete examination were excluded. The adenoma detection rate (ADR), advanced ADR (AADR), and colorectal cancer rate were calculated for the index and repeat colonoscopies. Results Of the 2474 patients with FIT-positive colonoscopy at our center during this period, 314 (12.7 %) had suboptimal preparation. Of the 259 (82.5 %) patients who underwent repeat colonoscopy, suboptimal cleansing persisted in 22 (9 %). On repeat colonoscopy, the ADR was 38.7 % (95 %CI 32.6 % to 44.8 %) and the AADR was 14.9 % (95 %CI 10.5 % to 19.4 %). The per-adenoma miss rate was 27.7 % (95 %CI 24.0 % to 31.6 %), and the per-advanced adenoma miss rate was 17.6 % (95 %CI 13.3 % to 22.7 %). After repeat colonoscopy, the post-polypectomy surveillance recommendation changed from 10 to 3 years in 14.7 % of the patients with previous 10-year surveillance recommendation. Conclusions Patients with suboptimal bowel preparation on FIT-positive colonoscopy present a high rate of advanced adenomas in repeat colonoscopy, with major changes in post-polypectomy surveillance recommendations.

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Relationship between the Number of Positive Fecal Occult Blood Tests and the Diagnostic Yield of Colonoscopy

Canadian Journal of Gastroenterology ◽

10.1155/2013/612314 ◽

2013 ◽

Vol 27 (2) ◽

pp. 90-94 ◽

Cited By ~ 2

Author(s):

Ahmad Muinuddin ◽

Ramona Aslahi ◽

Wilma M Hopman ◽

William G Paterson

Keyword(s):

Colon Cancer ◽

Cancer Screening ◽

Screening Program ◽

Diagnostic Yield ◽

Occult Blood ◽

Colon Cancer Screening ◽

Fecal Occult Blood ◽

Blood Tests ◽

Fecal Occult ◽

Cancer Screening Program

BACKGROUND: In 2007, Ontario launched a colon cancer screening program for average-risk individuals based on biennial fecal occult blood tests (FOBTs) on three fecal samples, followed by colonoscopy for individuals who tested positive.OBJECTIVE: To determine whether >1 positive screening FOBT was predictive of finding advanced neoplasia at colonoscopy.METHODS: A retrospective chart review of outpatient colonoscopic procedures performed at Hotel Dieu Hospital (Kingston, Ontario) in the first two years of the colon cancer screening program was conducted, focusing on endoscopic and pathological findings.RESULTS: Of 5556 individuals undergoing colonoscopy, 346 were referred for positive FOBT. Overall, 41 (11.8%) patients with a positive FOBT had colon cancer. In 16 (4.6%) cases, the number of positive FOBTs was not reported. For the 330 individuals in whom the number of positive tests was specified, 198, 71 and 61 cases had one, two and three positive results, respectively. Cancer was found at colonoscopy in 11 (5.6%), 11 (15.5%) and 18 (29.5%) of individuals with one, two and three positive FOBT results, respectively (OR 3.0 [95% CI 1.2 to 7.3] and 6.5 [95% CI 2.8 to 15.0] for two or three positive FOBTs compared with one; P=0.015 and P<0.001, respectively). High-risk adenomas (>1 cm in diameter, villous component and/or high-grade dysplasia) were found in 41 (20.8%), 29 (42.0%) and 25 (41.0%) individuals with one, two and three positive FOBTs, respectively (OR 2.8 [95% CI 1.5 to 5.0] and 2.4 [95% CI 1.3 to 4.5] for two or three positive FOBTs compared with one; P=0.001 and P=0.006, respectively).CONCLUSIONS: The diagnostic yield of colonoscopy varied directly with the number of positive FOBTs. This information may be useful in assigning scheduling priority for patients with positive FOBTs.

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