ALPK3 Heterozygous Truncating Variants Cause Late-Onset Hypertrophic Cardiomyopathy With Frequent Apical Involvement and Apical Aneurysm
Circ Genom Precis Med
.
2025 Jun 5:e005186.
doi: 10.1161/CIRCGEN.125.005186.
Online ahead of print.
Authors
Leora Busse
#
1
2
,
Emily A Huth
#
1
2
,
Maria Roselle Abraham
3
,
Theodore Abraham
3
,
Arun Padmanabhan
1
2
4
,
Julianne Wojciak
1
2
,
Gabrielle Wright
5
,
Rajani Aatre
6
,
Rachel Campagna
7
,
Erika Jackson
8
,
Sarah Kreykes
9
,
Kimberly Lane
10
,
Lindsey Sawyer
11
,
Chelsea Pappas
12
,
Matthew Thomas
13
,
Rebecca VanDyke
14
,
Vasanth Vedantham
1
2
4
,
Emily J Higgs
1
2
Affiliations
1
Cardiovascular Genetics Center, University of California, San Francisco. (L.B., E.A.H., A.P., J.W., V.V., E.J.H.).
2
Cardiology Division, Cardiovascular Research Institute, University of California, San Francisco. (L.B., E.A.H., A.P., J.W., V.V., E.J.H.).
3
UCSF Hypertrophic Cardiomyopathy Center of Excellence, Division of Cardiology, University of California, San Francisco. (M.R.A., T.A.).
4
Department of Medicine and Cardiovascular Research Institute, University of California, San Francisco. (A.P., V.V.).
5
University of California San Francisco Genetic Counseling Program (G.W.).
6
Frankel Cardiovascular Center, Department of Internal Medicine, University of Michigan, Ann Arbo (R.A.).
7
Heart and Vascular Center, University of Chicago Medicine, IL (R.C.).
8
Knight Cardiovascular Institute, Oregon Health and Science University, Portland (E.J.).
9
Cardiovascular Division, University of Minnesota, Minneapolis (S.K.).
10
Baylor Scott and White The Heart Hospital at Plano, TX (K.L.).
11
Division of Genetics, Department of Pediatrics, Children's Hospital of the Kings Daughters, Norfolk, VA (L.S.).
12
Cardiovascular Division, Brigham and Women's Hospital, Boston, MA (C.P.).
13
Division of Cardiology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville (M.T.).
14
Bluhm Cardiovascular Institute, Northwestern Medicine, Winfield, IL (R.V.D.).
#
Contributed equally.
PMID:
40469041
DOI:
10.1161/CIRCGEN.125.005186
No abstract available
Keywords:
genotype; heart arrest; humans; incidence; phenotype.
Publication types
Letter