Author + information
- Hannah Van Velzen,
- Arend F.L. Schinkel,
- Rogier A. Oldenburg,
- Marjon A. van Slegtenhorst and
- Michelle Michels
Background: Family screening in hypertrophic cardiomyopathy (HCM) including genetic and clinical evaluation is recommended by the guidelines. The yield and long-term outcome of family screening are not clear.
Methods: The study population consisted of 422 relatives from HCM families evaluated between 1985 and 2016 at our cardio-genetic outpatient clinic.
Results: Genetic testing identified 268 (64%) genotype-positive (G+) relatives (age 42±18 y, 47% male). The remaining 154 (36%) relatives (age 30±17 y, 47% male) had an unknown genetic status (G?) caused by absence of a pathogenic mutation in the family in 75; refusal of testing in 60; and untested proband in 19. At baseline, HCM was diagnosed in 101 (38%) G+ and 25 (16%) G? relatives (p<0.001) aged 44±16 (1-75) y. G+ status (OR 2.59, p<0.001), male sex (OR 2.08, p=0.001), age (OR 1.02, p=0.001), and sibling status (OR 1.75, p=0.023) were independently associated with HCM. During 8±6 years follow-up, cardiac mortality was 0.11%/y in G+/HCM+, 0.06%/y in G+/HCM- relatives (p=ns), and absent in G? relatives. ICDs were implanted in 21 (5%) relatives for primary prevention of sudden cardiac death. In relatives without HCM at baseline (age 32±19), HCM incidence at 5 and 10 years was 6.4% and 15.9% respectively (figure).
Conclusions: Family screening identified 64% G+ relatives and 30% patients with HCM at baseline. During 8±6 years follow-up, 16% developed HCM. G+ status, male sex, age and sibling status were associated with HCM.
Poster Hall, Hall C
Saturday, March 18, 2017, 9:45 a.m.-10:30 a.m.
Session Title: Advances in HCM, PPCM and Other Cardiomyopathies
Abstract Category: 13. Heart Failure and Cardiomyopathies: Clinical
Presentation Number: 1201-270
- 2017 American College of Cardiology Foundation