Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

Serwet Demirdas; Marjon A van Slegtenhorst; Robert M Verdijk; Max Lee; Hannerieke M P van den Hout; Marja W Wessels; Ingrid M E Frohn-Mulder; Thatjana Gardeitchik; Ans T van der Ploeg; Gerben J Schaaf

doi:10.1161/CIRCGEN.118.002395

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395.

Authors

Serwet Demirdas^{1

2}, Marjon A van Slegtenhorst^{1

2}, Robert M Verdijk³, Max Lee^{2

4

5}, Hannerieke M P van den Hout^{4

5}, Marja W Wessels^{1

2}, Ingrid M E Frohn-Mulder⁶, Thatjana Gardeitchik⁷, Ans T van der Ploeg^{4

5}, Gerben J Schaaf^{2

4

5}

Affiliations

¹ Department of Clinical Genetics (S.D., M.A.v.S., M.W.W.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
² Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
³ Department of Pathology (R.M.V.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
⁴ Department of Pediatrics (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
⁵ Center for Lysosomal and Metabolic Diseases (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
⁶ Division of Cardiology, Department of Pediatrics (I.M.E.F.-M.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
⁷ Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (T.J.).

PMID: 30919683
DOI: 10.1161/CIRCGEN.118.002395

No abstract available

Keywords: biological variation, population; cardiomyopathy, hypertrophic; death, sudden, cardiac; genetic testing; glycogen storage disease type IIb; lysosomal storage diseases; pathology, molecular.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Cardiomyopathies / complications
Cardiomyopathies / pathology*
DNA Mutational Analysis
Delayed Diagnosis
Echocardiography
Exercise
Gene Deletion
Glycogen Storage Disease Type IIb / complications
Glycogen Storage Disease Type IIb / diagnosis*
Heart / drug effects
Heart / physiology
Humans
Lysosomal-Associated Membrane Protein 2 / genetics
Lysosomal-Associated Membrane Protein 2 / metabolism
Magnetic Resonance Imaging
Male
Out-of-Hospital Cardiac Arrest

Substances

LAMP2 protein, human
Lysosomal-Associated Membrane Protein 2