Family Screening in Dilated Cardiomyopathy: Prevalence, Incidence, and Potential for Limiting Follow-Up
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
Family Screening in Dilated Cardiomyopathy : Prevalence, Incidence, and Potential for Limiting Follow-Up. / Vissing, Christoffer R.; Espersen, Kiri; Mills, Helen L.; Bartels, Emil D.; Jurlander, Rebecca; Skriver, Sofie V.; Ghouse, Jonas; Thune, Jens J.; Axelsson Raja, Anna; Christensen, Alex H.; Bundgaard, Henning.
In: JACC: Heart Failure, Vol. 10, No. 11, 2022, p. 792-803.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Family Screening in Dilated Cardiomyopathy
T2 - Prevalence, Incidence, and Potential for Limiting Follow-Up
AU - Vissing, Christoffer R.
AU - Espersen, Kiri
AU - Mills, Helen L.
AU - Bartels, Emil D.
AU - Jurlander, Rebecca
AU - Skriver, Sofie V.
AU - Ghouse, Jonas
AU - Thune, Jens J.
AU - Axelsson Raja, Anna
AU - Christensen, Alex H.
AU - Bundgaard, Henning
N1 - Publisher Copyright: © 2022 American College of Cardiology Foundation
PY - 2022
Y1 - 2022
N2 - Background: According to patterns of inheritance and incomplete penetrance, fewer than half of relatives to dilated cardiomyopathy probands will develop disease. Objectives: The purpose of this study was to investigate the prevalence and incidence, and to identify predictors of developing familial dilated cardiomyopathy (FDC) in relatives participating in family screening. Methods: The study was a retrospective, longitudinal cohort study of families screened and followed from 2006 to 2020 at a regional assembly of clinics for inherited cardiomyopathies. Results: In total, 211 families (563 relatives, 50% women) were included. At baseline, 124 relatives (22%) were diagnosed with FDC. Genetic sequencing identified the etiology in 37% of screened families and classified 101 (18%) relatives as unaffected carriers (n = 43) or noncarriers (ie, not at risk of FDC [n = 58]). The combined clinical and genetic baseline yield was 30%. During follow-up (2,313 person-years, median 5.0 years), 45 developed FDC (incidence rate of 2.0% per person-year; 95% CI: 1.4%-2.8%), increasing the overall yield to 34%. The incidence rate of FDC was high in relatives with baseline abnormalities on electrocardiogram or echocardiography compared with relatives with normal findings (4.7% vs 0.4% per person-year; HR: 12.9; P < 0.001). In total, baseline screening identified 326 (58%) relatives to be at low risk of FDC. Conclusions: Family screening identified a genetic predisposition to or overt FDC in 1 of 3 relatives at baseline. Genetic and clinical screening was normal in more than half of relatives, and these relatives had a low risk of developing FDC during follow-up. Thus, baseline screening identified a large proportion, in whom follow-up may safely be reduced, allowing focused follow-up of relatives at risk.
AB - Background: According to patterns of inheritance and incomplete penetrance, fewer than half of relatives to dilated cardiomyopathy probands will develop disease. Objectives: The purpose of this study was to investigate the prevalence and incidence, and to identify predictors of developing familial dilated cardiomyopathy (FDC) in relatives participating in family screening. Methods: The study was a retrospective, longitudinal cohort study of families screened and followed from 2006 to 2020 at a regional assembly of clinics for inherited cardiomyopathies. Results: In total, 211 families (563 relatives, 50% women) were included. At baseline, 124 relatives (22%) were diagnosed with FDC. Genetic sequencing identified the etiology in 37% of screened families and classified 101 (18%) relatives as unaffected carriers (n = 43) or noncarriers (ie, not at risk of FDC [n = 58]). The combined clinical and genetic baseline yield was 30%. During follow-up (2,313 person-years, median 5.0 years), 45 developed FDC (incidence rate of 2.0% per person-year; 95% CI: 1.4%-2.8%), increasing the overall yield to 34%. The incidence rate of FDC was high in relatives with baseline abnormalities on electrocardiogram or echocardiography compared with relatives with normal findings (4.7% vs 0.4% per person-year; HR: 12.9; P < 0.001). In total, baseline screening identified 326 (58%) relatives to be at low risk of FDC. Conclusions: Family screening identified a genetic predisposition to or overt FDC in 1 of 3 relatives at baseline. Genetic and clinical screening was normal in more than half of relatives, and these relatives had a low risk of developing FDC during follow-up. Thus, baseline screening identified a large proportion, in whom follow-up may safely be reduced, allowing focused follow-up of relatives at risk.
KW - genetic screening
KW - heart failure
KW - incidence rate
KW - inherited cardiomyopathies
KW - risk stratification
U2 - 10.1016/j.jchf.2022.07.009
DO - 10.1016/j.jchf.2022.07.009
M3 - Journal article
C2 - 36328645
AN - SCOPUS:85140241627
VL - 10
SP - 792
EP - 803
JO - J A C C: Heart Failure
JF - J A C C: Heart Failure
SN - 2213-1779
IS - 11
ER -
ID: 323996181