, Volume 21, Issue 6, pp 284-285,
Open Access This content is freely available online to anyone, anywhere at any time.
Date: 18 Apr 2013

The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy

This is an excerpt from the content

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is considered a hereditary cardiac disease, characterised by ventricular arrhythmias with left bundle branch block morphology, fibro-fatty replacement of cardiomyocytes and predominantly affecting the right ventricle [1, 2]. Recently, arrhythmogenic cardiomyopathy (AC) was suggested as the preferred terminology [3]. The most important considerations for this are that patients and families with ventricular arrhythmia and similar ARVD/C histopathological changes in the left ventricle have been recognised and described as left-dominant arrhythmogenic cardiomyopathy [4]. Mutations in desmosomal genes are associated with both ARVD/C and left-dominant arrhythmogenic cardiomyopathy and at the molecular level both ventricles and the interventricular septum are similarly affected [5, 6].

Classically AC is considered a disease of the desmosomes. Desmosomes are protein complexes located in the intercalated disk, important for mecha