Phenotypic spectrum of ALPK3-related cardiomyopathy

Khalfan Al Senaidi, Niranjan Joshi, Maryam Al-Nabhani, Ghalia Al-Kasbi, Abdullah Al Farqani, Khalid Al-Thihli, Almundher Al-Maawali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss-of-function pathogenic variants in alpha-kinase 3 (ALPK3) were implicated in causing early-onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight patients, all presented during early childhood, were reported with biallelic ALPK3 pathogenic variants. We describe the molecular and clinical phenotype characterization of familial cardiomyopathy on one family with six affected individuals. We identified homozygosity for an ALPK3 deleterious sequence variant (NM_020778.4:c.639G>A:p.Trp213*) in all the affected individuals. They presented with either dilated cardiomyopathy that progressed to hypertrophic cardiomyopathy (HCM) or HCM with left ventricular noncompaction. The age of presentation in our cohort extends between infancy to the fourth decade. The phenotypic severity decreases with the progression of age.

Original languageEnglish
Pages (from-to)1235-1240
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number7
DOIs
Publication statusPublished - Jul 2019

Keywords

  • ALPK3
  • cardiomyopathy
  • dilated
  • hypertrophic

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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