TY  - JOUR
A1  - Williams, Tatjana
A1  - Machann, Wolfram
A1  - Kühler, Leif
A1  - Hamm, Henning
A1  - Müller-Höcker, Josef
A1  - Zimmer, Michael
A1  - Ertl, Georg
A1  - Ritter, Oliver
A1  - Beer, Meinrad
A1  - Schönberger, Jost
T1  - Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
JF  - Clinical Research in Cardiology
N2  - Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes for plakoglobin (JUP) and desmoplakin (DSP) were screened for mutations using direct genomic sequencing. A novel homozygous 2 bp deletion was identified in an alternatively spliced region of DSP. The deletion 5208_5209delAG led to a frameshift downstream of amino acid 1,736 with a premature truncation of the predominant cardiac isoform DSP-1. This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. Congenital hair abnormality and manifestation of the cutaneous phenotype in toddler age can help to identify children at risk for cardiac death.
KW  - Desmoplakin
KW  - Juvenile biventricular cardiomyopathy
KW  - Palmoplantar keratoderma
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-141198
VL  - 100
IS  - 12
ER  - 
TY  - THES
A1  - Machann, Wolfram
T1  - MRT nach Myokardinfarkt - Wandfunktionsanalyse und metabolische Bildgebung
T1  - MRI after myocardial infarction - Wall motion analysis and metabolic imaging
N2  - Die kardiale MRT konnte in dieser Arbeit für die Infarktdiagnostik und Therapiekontrolle erfolgreich eingesetzt werden. Auf Grund einer Vielzahl von Sequenztechniken, dem Vorteil der Nichtinvasivität und dem Fehlen von ionisierenden Strahlen hat sich die MRT zu einem wichtigen Diagnostikwerkzeug zur Bestimmung von Prognoseparametern bei kardialen Erkrankungen entwickelt.
N2  - Cardiac MRI could be used successfully for the diagnosis of myocardial infarction and for therapy control. Due to a multiplicity of MRI sequences, the advantage of a non invasive approach and the lack of ionising rays, MRI developed to an important diagnostic tool for the determination of parameters in cardiac diseases
KW  - NMR-Tomographie
KW  - Herz
KW  - Natrium
KW  - MRI
KW  - cardiac
KW  - sodium
Y1  - 2008
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-28457
ER  -