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2016 ; 11
(ä): 33
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Arrhythmogenic cardiomyopathy
#MMPMID27038780
Pilichou K
; Thiene G
; Bauce B
; Rigato I
; Lazzarini E
; Migliore F
; Perazzolo Marra M
; Rizzo S
; Zorzi A
; Daliento L
; Corrado D
; Basso C
Orphanet J Rare Dis
2016[Apr]; 11
(ä): 33
PMID27038780
show ga
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically
characterized by life-threatening ventricular arrhythmias and pathologically by
an acquired and progressive dystrophy of the ventricular myocardium with
fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is
listed among rare diseases. A familial background consistent with an
autosomal-dominant trait of inheritance is present in most of AC patients;
recessive variants have also been reported, either or not associated with
palmoplantar keratoderma and woolly hair. AC-causing genes mostly encode major
components of the cardiac desmosome and up to 50% of AC probands harbor mutations
in one of them. Mutations in non-desmosomal genes have been also described in a
minority of AC patients, predisposing to the same or an overlapping disease
phenotype. Compound/digenic heterozygosity was identified in up to 25% of
AC-causing desmosomal gene mutation carriers, in part explaining the phenotypic
variability. Abnormal trafficking of intercellular proteins to the intercalated
discs of cardiomyocytes and Wnt/beta catenin and Hippo signaling pathways have
been implicated in disease pathogenesis.AC is a major cause of sudden death in
the young and in athletes. The clinical picture may include a sub-clinical phase;
an overt electrical disorder; and right ventricular or biventricular pump
failure. Ventricular fibrillation can occur at any stage. Genotype-phenotype
correlation studies led to identify biventricular and dominant left ventricular
variants, thus supporting the use of the broader term AC.Since there is no "gold
standard" to reach the diagnosis of AC, multiple categories of diagnostic
information have been combined and the criteria recently updated, to improve
diagnostic sensitivity while maintaining specificity. Among diagnostic tools,
contrast enhanced cardiac magnetic resonance is playing a major role in detecting
left dominant forms of AC, even preceding morpho-functional abnormalities. The
main differential diagnoses are idiopathic right ventricular outflow tract
tachycardia, myocarditis, sarcoidosis, dilated cardiomyopathy, right ventricular
infarction, congenital heart diseases with right ventricular overload and athlete
heart. A positive genetic test in the affected AC proband allows early
identification of asymptomatic carriers by cascade genetic screening of family
members. Risk stratification remains a major clinical challenge and
antiarrhythmic drugs, catheter ablation and implantable cardioverter
defibrillator are the currently available therapeutic tools. Sport
disqualification is life-saving, since effort is a major trigger not only of
electrical instability but also of disease onset and progression. We review the
current knowledge of this rare cardiomyopathy, suggesting a flowchart for primary
care clinicians and geneticists.
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