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Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction
Author(s) -
Sabine Klaassen,
Susanne Probst,
Erwin Oechslin,
Brenda Gerull,
Gregor Krings,
Pia Schuler,
Matthias Greutmann,
David Hürlimann,
M. Yegitbasi,
Lucía Pons,
Michael Gramlich,
JörgDetlef Drenckhahn,
Arnd Heuser,
Felix Berger,
Rolf Jenni,
Ludwig Thierfelder
Publication year - 2008
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.107.746164
Subject(s) - myh7 , left ventricular noncompaction , sarcomere , proband , mutation , gene mutation , hypertrophic cardiomyopathy , genetics , medicine , cardiomyopathy , myh6 , gene , cardiology , biology , heart failure , myocyte , gene isoform
Left ventricular noncompaction constitutes a primary cardiomyopathy characterized by a severely thickened, 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses. The genetic basis of this cardiomyopathy is still largely unresolved. We speculated that mutations in sarcomere protein genes known to cause hypertrophic cardiomyopathy and dilated cardiomyopathy may be associated with left ventricular noncompaction.

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