Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes

Liam Aspit; Noga Arwas; Hanna Krymko; Yoram Etzion; Ruti Parvari; Aviva Levitas

doi:10.1055/s-0040-1718724

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes

J Pediatr Genet. 2020 Nov 19;11(4):304-308. doi: 10.1055/s-0040-1718724. eCollection 2022 Dec.

Authors

Liam Aspit^{1

2}, Noga Arwas³, Hanna Krymko³, Yoram Etzion⁴, Ruti Parvari^{1

2}, Aviva Levitas³

Affiliations

¹ The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
² The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel.
³ Department of Pediatric Cardiology, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
⁴ Department of Physiology and Cell Biology, Faculty of Health Sciences and Regenerative Medicine and Stem Cell Research Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Abstract

Duchenne muscular dystrophy (DMD) is a progressive muscular damage disorder caused by mutations in dystrophin gene. Cardiomyopathy may first be evident after 10 years of age and increases in incidence with age. We present a boy diagnosed at 18 months with a rare phenotype of DMD in association with early-onset hypertrophic cardiomyopathy (HCM). The cause of DMD is a deletion of exons 51-54 of dystrophin gene. The cause of HCM was verified by whole exome sequencing. Novel missense variations in two genes: MAP2K5 inherited from the mother and ACTN2 inherited from the father, or de novo. The combination of MAP2K5 , ACTN2 , and dystrophin mutations, could be causing the HCM in our patient. This is the second patient diagnosed, at relatively young age, with DMD and HCM, with novel variations in genes known to cause HCM. This study demonstrates the need for genetic diagnosis to elucidate the underlying pathology of HCM.

Keywords: ACTN2; Duchenne muscular dystrophy; MAP2K5; hypertrophic cardiomyopathy.

Publication types

Case Reports

Grants and funding

Funding This study was supported by The Israeli Ministry of Science, Technology and Space (to R.P.) and Ben-Gurion University of the Negev, Faculty of Health Sciences (to A.L.).