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2014 ; 78
(10
): 2347-56
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Inherited cardiomyopathies
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Towbin JA
Circ J
2014[]; 78
(10
): 2347-56
PMID25186923
show ga
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity
and mortality. A significant percentage of patients with cardiomyopathies have
genetic-based, inheritable disease and, over the past 2 decades the genetic
causes of these disorders have been increasingly discovered. The genes causing
these disorders when they are mutated appear to encode proteins that frame a
"final common pathway" for that specific disorder, but the specifics of the
phenotype, including age of onset, severity, and outcome is variable for reasons
not yet understood. The "final common pathways" for the classified forms of
cardiomyopathy include the sarcomere in the primarily diastolic dysfunction
disorders hypertrophic cardiomyopathy and restrictive cardiomyopathy, the linkage
of the sarcomere and sarcolemma in the systolic dysfunction disorder dilated
cardiomyopathy, and the desmosome in arrhythmogenic cardiomyopathy. Left
ventricular noncompaction cardiomyopathy (LVNC) is an overlap disorder and it
appears that any of these "final common pathways" can be involved depending on
the specific form of LVNC. The genetics and mechanisms responsible for these
clinical phenotypes will be described.
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