14119
2011
eng
1087-1093
12
100
article
1
2016-11-30
--
--
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
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.
Clinical Research in Cardiology
10.1007/s00392-011-0345-9
urn:nbn:de:bvb:20-opus-141198
Clin Res Cardiol (2011) 100:1087–1093, DOI 10.1007/s00392-011-0345-9
Tatjana Williams
Wolfram Machann
Leif Kühler
Henning Hamm
Josef Müller-Höcker
Michael Zimmer
Georg Ertl
Oliver Ritter
Meinrad Beer
Jost Schönberger
eng
uncontrolled
Desmoplakin
eng
uncontrolled
Juvenile biventricular cardiomyopathy
eng
uncontrolled
Palmoplantar keratoderma
Medizin und Gesundheit
open_access
Institut für Klinische Biochemie und Pathobiochemie
Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie
Medizinische Klinik und Poliklinik I
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/14119/100_Williams_Clinical-Research-in-Cardiology.pdf
2438
2008
deu
doctoralthesis
1
2008-08-08
--
2008-08-01
MRT nach Myokardinfarkt - Wandfunktionsanalyse und metabolische Bildgebung
MRI after myocardial infarction - Wall motion analysis and metabolic imaging
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.
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
urn:nbn:de:bvb:20-opus-28457
2845
X122016
Wolfram Machann
deu
swd
NMR-Tomographie
deu
swd
Herz
deu
swd
Natrium
eng
uncontrolled
MRI
eng
uncontrolled
cardiac
eng
uncontrolled
sodium
Medizin und Gesundheit
open_access
Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Universität Würzburg
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/2438/Dissertation_Machann.pdf