Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives. / Nielsen, Søren K.; Hansen, Frederikke G.; Rasmussen, Torsten B.; Fischer, Thomas; Lassen, Jens F.; Madsen, Trine; Møller, Dorthe S.; Klausen, Ib C.; Brodersen, John B.; Jensen, Morten S.K.; Mogensen, Jens.

In: Journal of the American College of Cardiology, Vol. 82, No. 18, 2023, p. 1751-1761.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Nielsen, SK, Hansen, FG, Rasmussen, TB, Fischer, T, Lassen, JF, Madsen, T, Møller, DS, Klausen, IC, Brodersen, JB, Jensen, MSK & Mogensen, J 2023, 'Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives', Journal of the American College of Cardiology, vol. 82, no. 18, pp. 1751-1761. https://doi.org/10.1016/j.jacc.2023.08.041

APA

Nielsen, S. K., Hansen, F. G., Rasmussen, T. B., Fischer, T., Lassen, J. F., Madsen, T., Møller, D. S., Klausen, I. C., Brodersen, J. B., Jensen, M. S. K., & Mogensen, J. (2023). Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives. Journal of the American College of Cardiology, 82(18), 1751-1761. https://doi.org/10.1016/j.jacc.2023.08.041

Vancouver

Nielsen SK, Hansen FG, Rasmussen TB, Fischer T, Lassen JF, Madsen T et al. Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives. Journal of the American College of Cardiology. 2023;82(18):1751-1761. https://doi.org/10.1016/j.jacc.2023.08.041

Author

Nielsen, Søren K. ; Hansen, Frederikke G. ; Rasmussen, Torsten B. ; Fischer, Thomas ; Lassen, Jens F. ; Madsen, Trine ; Møller, Dorthe S. ; Klausen, Ib C. ; Brodersen, John B. ; Jensen, Morten S.K. ; Mogensen, Jens. / Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives. In: Journal of the American College of Cardiology. 2023 ; Vol. 82, No. 18. pp. 1751-1761.

Bibtex

@article{15d4ac806a8042edaf5b8384aa5675d3,
title = "Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives",
abstract = "Background: Current guidelines recommend that relatives of index patients with hypertrophic cardiomyopathy (HCM) are offered clinical investigations to identify individuals at risk of adverse disease complications and sudden cardiac death. However, the value of family screening in relatives of index patients with a normal genetic investigation of recognized HCM genes is largely unknown. Objectives: The purpose of this study was to perform family screening among relatives of HCM index patients with a normal genetic investigation to establish the frequency of familial disease and the clinical characteristics of affected individuals. Methods: Clinical and genetic investigations were performed in consecutive and unrelated HCM index patients. Relatives of index patients who did not carry pathogenic/likely pathogenic variants in recognized HCM genes were invited for clinical investigations. Results: In total, 60% (270 of 453) of HCM index patients had a normal genetic investigation. A total of 80% of their relatives (751 of 938, median age 44 years) participated in the study. Of these, 5% (34 of 751) were diagnosed with HCM at baseline, whereas 0.3% (2 of 717 [751–34]) developed the condition during 5 years of follow-up. Their median age at diagnosis was 57 years (IQR: 51-70 years). Two-thirds (22 of 36) were diagnosed following family screening, whereas one-third (14 of 36) had been diagnosed previously because of cardiac symptoms, a murmur, or an abnormal electrocardiogram. None of the affected relatives experienced adverse disease complications. The risk of SCD was low. Conclusions: Systematic family screening of index patients with HCM and normal genetic investigations was associated with a low frequency of affected relatives who appeared to have a favorable prognosis.",
keywords = "genetic investigations, hypertrophic cardiomyopathy, natural history, penetrance, sudden cardiac death",
author = "Nielsen, {S{\o}ren K.} and Hansen, {Frederikke G.} and Rasmussen, {Torsten B.} and Thomas Fischer and Lassen, {Jens F.} and Trine Madsen and M{\o}ller, {Dorthe S.} and Klausen, {Ib C.} and Brodersen, {John B.} and Jensen, {Morten S.K.} and Jens Mogensen",
note = "Publisher Copyright: {\textcopyright} 2023 American College of Cardiology Foundation",
year = "2023",
doi = "10.1016/j.jacc.2023.08.041",
language = "English",
volume = "82",
pages = "1751--1761",
journal = "Journal of the American College of Cardiology",
issn = "0735-1097",
publisher = "Elsevier",
number = "18",

}

RIS

TY - JOUR

T1 - Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives

AU - Nielsen, Søren K.

AU - Hansen, Frederikke G.

AU - Rasmussen, Torsten B.

AU - Fischer, Thomas

AU - Lassen, Jens F.

AU - Madsen, Trine

AU - Møller, Dorthe S.

AU - Klausen, Ib C.

AU - Brodersen, John B.

AU - Jensen, Morten S.K.

AU - Mogensen, Jens

N1 - Publisher Copyright: © 2023 American College of Cardiology Foundation

PY - 2023

Y1 - 2023

N2 - Background: Current guidelines recommend that relatives of index patients with hypertrophic cardiomyopathy (HCM) are offered clinical investigations to identify individuals at risk of adverse disease complications and sudden cardiac death. However, the value of family screening in relatives of index patients with a normal genetic investigation of recognized HCM genes is largely unknown. Objectives: The purpose of this study was to perform family screening among relatives of HCM index patients with a normal genetic investigation to establish the frequency of familial disease and the clinical characteristics of affected individuals. Methods: Clinical and genetic investigations were performed in consecutive and unrelated HCM index patients. Relatives of index patients who did not carry pathogenic/likely pathogenic variants in recognized HCM genes were invited for clinical investigations. Results: In total, 60% (270 of 453) of HCM index patients had a normal genetic investigation. A total of 80% of their relatives (751 of 938, median age 44 years) participated in the study. Of these, 5% (34 of 751) were diagnosed with HCM at baseline, whereas 0.3% (2 of 717 [751–34]) developed the condition during 5 years of follow-up. Their median age at diagnosis was 57 years (IQR: 51-70 years). Two-thirds (22 of 36) were diagnosed following family screening, whereas one-third (14 of 36) had been diagnosed previously because of cardiac symptoms, a murmur, or an abnormal electrocardiogram. None of the affected relatives experienced adverse disease complications. The risk of SCD was low. Conclusions: Systematic family screening of index patients with HCM and normal genetic investigations was associated with a low frequency of affected relatives who appeared to have a favorable prognosis.

AB - Background: Current guidelines recommend that relatives of index patients with hypertrophic cardiomyopathy (HCM) are offered clinical investigations to identify individuals at risk of adverse disease complications and sudden cardiac death. However, the value of family screening in relatives of index patients with a normal genetic investigation of recognized HCM genes is largely unknown. Objectives: The purpose of this study was to perform family screening among relatives of HCM index patients with a normal genetic investigation to establish the frequency of familial disease and the clinical characteristics of affected individuals. Methods: Clinical and genetic investigations were performed in consecutive and unrelated HCM index patients. Relatives of index patients who did not carry pathogenic/likely pathogenic variants in recognized HCM genes were invited for clinical investigations. Results: In total, 60% (270 of 453) of HCM index patients had a normal genetic investigation. A total of 80% of their relatives (751 of 938, median age 44 years) participated in the study. Of these, 5% (34 of 751) were diagnosed with HCM at baseline, whereas 0.3% (2 of 717 [751–34]) developed the condition during 5 years of follow-up. Their median age at diagnosis was 57 years (IQR: 51-70 years). Two-thirds (22 of 36) were diagnosed following family screening, whereas one-third (14 of 36) had been diagnosed previously because of cardiac symptoms, a murmur, or an abnormal electrocardiogram. None of the affected relatives experienced adverse disease complications. The risk of SCD was low. Conclusions: Systematic family screening of index patients with HCM and normal genetic investigations was associated with a low frequency of affected relatives who appeared to have a favorable prognosis.

KW - genetic investigations

KW - hypertrophic cardiomyopathy

KW - natural history

KW - penetrance

KW - sudden cardiac death

U2 - 10.1016/j.jacc.2023.08.041

DO - 10.1016/j.jacc.2023.08.041

M3 - Journal article

C2 - 37879779

AN - SCOPUS:85173701901

VL - 82

SP - 1751

EP - 1761

JO - Journal of the American College of Cardiology

JF - Journal of the American College of Cardiology

SN - 0735-1097

IS - 18

ER -

ID: 375498178