Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome

Juliane Theilade; Jørgen Kanters; Finn Lund Henriksen; Michael Gilså-Hansen; Jesper Hastrup Svendsen; Ole Eschen; Egon Toft; J. I. Reimers; Anne Tybjærg-Hansen; M Christiansen; H. K. Jensen; H. Bundgaard

doi:10.1159/000350825

Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome

Juliane Theilade, Jørgen Kanters, Finn Lund Henriksen, Michael Gilså-Hansen, Jesper Hastrup Svendsen, Ole Eschen, Egon Toft, J. I. Reimers, Anne Tybjærg-Hansen, M Christiansen, H. K. Jensen, H. Bundgaard

14 Citations (Scopus)

Abstract

Objectives: We assessed the outcome of cascade screening of families with congenital long QT syndrome (LQTS) in Danish heart centers. Methods: Affected family members were identified through systematic family screening. Results: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing was found in 82% of probands. Two-thirds of affected relatives fulfilled electrocardiographic criteria for the diagnosis, whereas diagnosis was based on genetic findings in only one-third. The majority of affected relatives were asymptomatic. Symptomatic relatives and probands most often presented with syncope, followed by aborted cardiac arrest and sudden cardiac death. A serious cardiac event (SCE, such as syncope, aborted cardiac arrest or cardiac arrest) was reported by 32% of affected relatives and 87% of probands (p < 0.0001). Fifty-two percent of affected relatives were on β-blockers and 11% had an implantable cardioverter defibrillator (ICD), as compared to 88 and 49% of probands (p < 0.0001). Appropriate ICD therapy was given to 13% of affected relatives and to 27% of probands (p = 0.1). Conclusions: Clinically driven cascade screening of Danish LQTS families identified 2-3 affected relatives per proband. Affected relatives had milder disease courses, but SCEs in a subset strongly support screening. Danish cardiologists have adopted cascade screening of LQTS families according to specific Danish guidelines.

Original language	English
Journal	Cardiology
Volume	126
Issue number	2
Pages (from-to)	131-7
Number of pages	7
ISSN	0008-6312
DOIs	https://doi.org/10.1159/000350825
Publication status	Published - Sept 2013

Access to Document

10.1159/000350825

Cite this

Theilade, J., Kanters, J., Henriksen, F. L., Gilså-Hansen, M., Svendsen, J. H., Eschen, O., Toft, E., Reimers, J. I., Tybjærg-Hansen, A., Christiansen, M., Jensen, H. K., & Bundgaard, H. (2013). Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome. Cardiology, 126(2), 131-7. https://doi.org/10.1159/000350825

Theilade, J, Kanters, J, Henriksen, FL, Gilså-Hansen, M, Svendsen, JH, Eschen, O, Toft, E, Reimers, JI, Tybjærg-Hansen, A, Christiansen, M, Jensen, HK & Bundgaard, H 2013, 'Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome', Cardiology, vol. 126, no. 2, pp. 131-7. https://doi.org/10.1159/000350825

@article{ca78fd8f998c44afb4c85f996984859b,

title = "Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome",

abstract = "Objectives: We assessed the outcome of cascade screening of families with congenital long QT syndrome (LQTS) in Danish heart centers. Methods: Affected family members were identified through systematic family screening. Results: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing was found in 82% of probands. Two-thirds of affected relatives fulfilled electrocardiographic criteria for the diagnosis, whereas diagnosis was based on genetic findings in only one-third. The majority of affected relatives were asymptomatic. Symptomatic relatives and probands most often presented with syncope, followed by aborted cardiac arrest and sudden cardiac death. A serious cardiac event (SCE, such as syncope, aborted cardiac arrest or cardiac arrest) was reported by 32% of affected relatives and 87% of probands (p < 0.0001). Fifty-two percent of affected relatives were on β-blockers and 11% had an implantable cardioverter defibrillator (ICD), as compared to 88 and 49% of probands (p < 0.0001). Appropriate ICD therapy was given to 13% of affected relatives and to 27% of probands (p = 0.1). Conclusions: Clinically driven cascade screening of Danish LQTS families identified 2-3 affected relatives per proband. Affected relatives had milder disease courses, but SCEs in a subset strongly support screening. Danish cardiologists have adopted cascade screening of LQTS families according to specific Danish guidelines.",

author = "Juliane Theilade and J{\o}rgen Kanters and Henriksen, {Finn Lund} and Michael Gils{\aa}-Hansen and Svendsen, {Jesper Hastrup} and Ole Eschen and Egon Toft and Reimers, {J. I.} and Anne Tybj{\ae}rg-Hansen and M Christiansen and Jensen, {H. K.} and H. Bundgaard",

year = "2013",

month = sep,

doi = "10.1159/000350825",

language = "English",

volume = "126",

pages = "131--7",

journal = "Cardiologia",

issn = "0008-6312",

publisher = "S Karger AG",

number = "2",

}

TY - JOUR

T1 - Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists

T2 - Feasibility and Nationwide Outcome in Long QT Syndrome

AU - Theilade, Juliane

AU - Kanters, Jørgen

AU - Henriksen, Finn Lund

AU - Gilså-Hansen, Michael

AU - Svendsen, Jesper Hastrup

AU - Eschen, Ole

AU - Toft, Egon

AU - Reimers, J. I.

AU - Tybjærg-Hansen, Anne

AU - Christiansen, M

AU - Jensen, H. K.

AU - Bundgaard, H.

PY - 2013/9

Y1 - 2013/9

N2 - Objectives: We assessed the outcome of cascade screening of families with congenital long QT syndrome (LQTS) in Danish heart centers. Methods: Affected family members were identified through systematic family screening. Results: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing was found in 82% of probands. Two-thirds of affected relatives fulfilled electrocardiographic criteria for the diagnosis, whereas diagnosis was based on genetic findings in only one-third. The majority of affected relatives were asymptomatic. Symptomatic relatives and probands most often presented with syncope, followed by aborted cardiac arrest and sudden cardiac death. A serious cardiac event (SCE, such as syncope, aborted cardiac arrest or cardiac arrest) was reported by 32% of affected relatives and 87% of probands (p < 0.0001). Fifty-two percent of affected relatives were on β-blockers and 11% had an implantable cardioverter defibrillator (ICD), as compared to 88 and 49% of probands (p < 0.0001). Appropriate ICD therapy was given to 13% of affected relatives and to 27% of probands (p = 0.1). Conclusions: Clinically driven cascade screening of Danish LQTS families identified 2-3 affected relatives per proband. Affected relatives had milder disease courses, but SCEs in a subset strongly support screening. Danish cardiologists have adopted cascade screening of LQTS families according to specific Danish guidelines.

AB - Objectives: We assessed the outcome of cascade screening of families with congenital long QT syndrome (LQTS) in Danish heart centers. Methods: Affected family members were identified through systematic family screening. Results: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing was found in 82% of probands. Two-thirds of affected relatives fulfilled electrocardiographic criteria for the diagnosis, whereas diagnosis was based on genetic findings in only one-third. The majority of affected relatives were asymptomatic. Symptomatic relatives and probands most often presented with syncope, followed by aborted cardiac arrest and sudden cardiac death. A serious cardiac event (SCE, such as syncope, aborted cardiac arrest or cardiac arrest) was reported by 32% of affected relatives and 87% of probands (p < 0.0001). Fifty-two percent of affected relatives were on β-blockers and 11% had an implantable cardioverter defibrillator (ICD), as compared to 88 and 49% of probands (p < 0.0001). Appropriate ICD therapy was given to 13% of affected relatives and to 27% of probands (p = 0.1). Conclusions: Clinically driven cascade screening of Danish LQTS families identified 2-3 affected relatives per proband. Affected relatives had milder disease courses, but SCEs in a subset strongly support screening. Danish cardiologists have adopted cascade screening of LQTS families according to specific Danish guidelines.

U2 - 10.1159/000350825

DO - 10.1159/000350825

M3 - Journal article

C2 - 23969902

SN - 0008-6312

VL - 126

SP - 131

EP - 137

JO - Cardiologia

JF - Cardiologia

IS - 2

ER -

Cascade Screening in Families with Inherited Cardiac Diseases Driven by Cardiologists: Feasibility and Nationwide Outcome in Long QT Syndrome

Abstract

Access to Document

Fingerprint

Cite this