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Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims

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@article{d4cb8e6eaf0e4ae7aab7e90564512d67,
title = "Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims",
abstract = "BACKGROUND: Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims in case the SCD was due to an inherited cardiac disorder. Work-up of relatives is guided by findings in the SCD victim. If post-mortem examinations have not been performed the work-up of relatives is challenged.METHOD: In this retrospective study we included families referred to our tertiary referral centre between 2005 and 2018 due to a possible SCD (pSCD) in the family. Autopsy had not been performed in any of the pSCD victims. The relatives underwent cardiac work-up focusing on putative presence of inherited cardiac disorders and genetic analysis in selected cases. A family diagnosis was only established if≥1 relative was diagnosed. The families were categorised as: 1) definite inherited cardiac diagnosis, 2) borderline diagnosis, or 3) undiagnosed.RESULTS: We assessed 149 relatives (43 ± 16 years, 48% men) from 84 pSCD non-autopsied cases (44 ± 11 years, 79% men). In 11 (13%) families a definite inherited cardiac diagnosis was established, a borderline diagnosis in 8 (10%) families, and 65 (77%) families remained undiagnosed. One third of the diagnosed relatives were offered pharmaco- or device-based therapy. During follow-up for 4.7 ± 3.6 years no relatives from the families with definite diagnoses died. No events were seen in the groups with borderline or no diagnoses.CONCLUSION: The diagnostic yield and need for treatment in diagnosed relatives warrant work-up, also of families with non-autopsied pSCD victims. No or reduced follow-up of relatives without signs or symptoms of heart diseases may be safe.",
keywords = "Cardiomyopathy, Family screening, Ion channel disease, Ischemic heart disease, Sudden cardiac death",
author = "Amalie Kjerrumgaard and Jacobsen, {Elisabeth M{\"u}tze} and Hansen, {Benjamin Lautrup} and Jacob Tfelt-Hansen and Winkel, {Bo Gregers} and Christensen, {Alex H{\o}rby} and Henning Bundgaard",
note = "Copyright {\textcopyright} 2020 Elsevier B.V. All rights reserved.",
year = "2020",
month = nov,
day = "1",
doi = "10.1016/j.ijcard.2020.06.012",
language = "English",
volume = "318",
pages = "61--66",
journal = "International Journal of Cardiology",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",

}

RIS

TY - JOUR

T1 - Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims

AU - Kjerrumgaard, Amalie

AU - Jacobsen, Elisabeth Mütze

AU - Hansen, Benjamin Lautrup

AU - Tfelt-Hansen, Jacob

AU - Winkel, Bo Gregers

AU - Christensen, Alex Hørby

AU - Bundgaard, Henning

N1 - Copyright © 2020 Elsevier B.V. All rights reserved.

PY - 2020/11/1

Y1 - 2020/11/1

N2 - BACKGROUND: Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims in case the SCD was due to an inherited cardiac disorder. Work-up of relatives is guided by findings in the SCD victim. If post-mortem examinations have not been performed the work-up of relatives is challenged.METHOD: In this retrospective study we included families referred to our tertiary referral centre between 2005 and 2018 due to a possible SCD (pSCD) in the family. Autopsy had not been performed in any of the pSCD victims. The relatives underwent cardiac work-up focusing on putative presence of inherited cardiac disorders and genetic analysis in selected cases. A family diagnosis was only established if≥1 relative was diagnosed. The families were categorised as: 1) definite inherited cardiac diagnosis, 2) borderline diagnosis, or 3) undiagnosed.RESULTS: We assessed 149 relatives (43 ± 16 years, 48% men) from 84 pSCD non-autopsied cases (44 ± 11 years, 79% men). In 11 (13%) families a definite inherited cardiac diagnosis was established, a borderline diagnosis in 8 (10%) families, and 65 (77%) families remained undiagnosed. One third of the diagnosed relatives were offered pharmaco- or device-based therapy. During follow-up for 4.7 ± 3.6 years no relatives from the families with definite diagnoses died. No events were seen in the groups with borderline or no diagnoses.CONCLUSION: The diagnostic yield and need for treatment in diagnosed relatives warrant work-up, also of families with non-autopsied pSCD victims. No or reduced follow-up of relatives without signs or symptoms of heart diseases may be safe.

AB - BACKGROUND: Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims in case the SCD was due to an inherited cardiac disorder. Work-up of relatives is guided by findings in the SCD victim. If post-mortem examinations have not been performed the work-up of relatives is challenged.METHOD: In this retrospective study we included families referred to our tertiary referral centre between 2005 and 2018 due to a possible SCD (pSCD) in the family. Autopsy had not been performed in any of the pSCD victims. The relatives underwent cardiac work-up focusing on putative presence of inherited cardiac disorders and genetic analysis in selected cases. A family diagnosis was only established if≥1 relative was diagnosed. The families were categorised as: 1) definite inherited cardiac diagnosis, 2) borderline diagnosis, or 3) undiagnosed.RESULTS: We assessed 149 relatives (43 ± 16 years, 48% men) from 84 pSCD non-autopsied cases (44 ± 11 years, 79% men). In 11 (13%) families a definite inherited cardiac diagnosis was established, a borderline diagnosis in 8 (10%) families, and 65 (77%) families remained undiagnosed. One third of the diagnosed relatives were offered pharmaco- or device-based therapy. During follow-up for 4.7 ± 3.6 years no relatives from the families with definite diagnoses died. No events were seen in the groups with borderline or no diagnoses.CONCLUSION: The diagnostic yield and need for treatment in diagnosed relatives warrant work-up, also of families with non-autopsied pSCD victims. No or reduced follow-up of relatives without signs or symptoms of heart diseases may be safe.

KW - Cardiomyopathy

KW - Family screening

KW - Ion channel disease

KW - Ischemic heart disease

KW - Sudden cardiac death

UR - http://www.scopus.com/inward/record.url?scp=85087478665&partnerID=8YFLogxK

U2 - 10.1016/j.ijcard.2020.06.012

DO - 10.1016/j.ijcard.2020.06.012

M3 - Journal article

C2 - 32569702

VL - 318

SP - 61

EP - 66

JO - International Journal of Cardiology

JF - International Journal of Cardiology

SN - 0167-5273

ER -

ID: 62032892