Arrhythmogenic Left Ventricular Cardiomyopathy: Suspected by Cardiac Magnetic Resonance Imaging, Confirmed by Identification of a Novel Plakophilin-2 Variant

Circulation. 2015 Aug 11;132(6):e38-40. doi: 10.1161/CIRCULATIONAHA.115.017284.

Authors

Ardan M Saguner¹, Beate Buchmann², Daniel Wyler², Robert Manka², Alexander Gotschy², Argelia Medeiros-Domingo², Corinna Brunckhorst², Firat Duru², Kurt A Mayer²

Affiliations

¹ From Department of Cardiology, University Heart Center Zurich, Switzerland (A.M.S., R.M., A.G., C.B., F.D.); Department of Internal Medicine (B.B., K.A.M.) and Institute of Legal Medicine (D.W.), Cantonal Hospital of Grisons, Chur, Switzerland; and Department of Cardiology, University Hospital Bern, Switzerland (A.M.-D.). ardansaguner@yahoo.de.
² From Department of Cardiology, University Heart Center Zurich, Switzerland (A.M.S., R.M., A.G., C.B., F.D.); Department of Internal Medicine (B.B., K.A.M.) and Institute of Legal Medicine (D.W.), Cantonal Hospital of Grisons, Chur, Switzerland; and Department of Cardiology, University Hospital Bern, Switzerland (A.M.-D.).

PMID: 26260507
DOI: 10.1161/CIRCULATIONAHA.115.017284

No abstract available

Publication types

Case Reports
Video-Audio Media

MeSH terms

Adipose Tissue / pathology
Adult
Arrhythmias, Cardiac / etiology*
Arrhythmogenic Right Ventricular Dysplasia / complications
Arrhythmogenic Right Ventricular Dysplasia / genetics
Death, Sudden, Cardiac / etiology
Desmoglein 2 / genetics
Desmosomes / pathology
Electrocardiography
False Negative Reactions
Female
Heart Defects, Congenital / complications
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / diagnostic imaging
Heart Defects, Congenital / genetics*
Heart Ventricles / abnormalities*
Heart Ventricles / diagnostic imaging
Heart Ventricles / pathology
Heterozygote
Humans
Magnetic Resonance Imaging*
Male
Middle Aged
Mutation, Missense*
Plakophilins / chemistry
Plakophilins / genetics*
Plakophilins / physiology
Point Mutation*
Ultrasonography

Substances

DSG2 protein, human
Desmoglein 2
PKP2 protein, human
Plakophilins