Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs

HYPERTROPHIC CARDIOMYOPATHY ( HCM ) : A Review

Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes.

Familial Hypertrophic Cardiomyopathy (FHC) is frequently caused by mutations in the β-cardiac myosin heavy chain (β-MyHC). To identify changes in sarcomeric function triggered by such mutations, distinguishing mutation effects from other functional alterations of the myocardium is essential. We previously identified a direct effect of mutation R723G (MyHC723) on myosin function in slow Musculus...

Investigation of Polymorphisms in Non-Coding Region of Human Mitochondrial DNA in 31 Iranian Hypertrophic Cardiomyopathy (HCM) Patients

The D-loop region is a hot spot for mitochondrial DNA (mtDNA) alterations, containing two hypervariable segments, HVS-I and HVS-II. In order to identify polymorphic sites and potential genetic background accounting for Hypertrophic CardioMyopathy (HCM) disease, the complete non-coding region of mtDNA from 31 unrelated HCM patients and 45 normal controls were sequenced. The sequences were aligne...

Pathology of hypertrophic cardiomyopathy.

This communication will concentrate on the morphological recognition and diagnosis ofthis condition. The classical change at macroscopic examination of the heart is asymmetric hypertrophy of the interventricular septum, the maximal bulge occurring at various sites (Olsen, 1972). A few years ago doubt was cast upon the reliability of this change due to its occurrence in normal as well as congeni...

Crypts predict the hypertrophic response in HCM mutation carriers

Objectives We BLOCKINused BLOCKINserial BLOCKINcardiovascular BLOCKINmagnetic BLOCKINresonance BLOCKINimaging BLOCKIN(CMR) BLOCKINin BLOCKINmutation BLOCKINcarriers to monitor LV mass, LV function, LV morphology and left atrial (LA) volumes to gain insight BLOCKINin BLOCKINthe BLOCKINnatural BLOCKINcourse BLOCKINof BLOCKINdevelopment BLOCKINof BLOCKINHCM.