Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation
نویسندگان
چکیده
منابع مشابه
The development of familial hypertrophic cardiomyopathy: from mutation to bedside.
Hypertrophic cardiomyopathy (HCM) is a familial disorder characterized by left ventricular hypertrophy in the absence of other cardiac or systemic disease likely to cause this hypertrophy. HCM is considered a disease of the sarcomere as most causal mutations are identified in genes encoding sarcomeric proteins, although several other disorders have also been linked to the HCM phenotype. The cli...
متن کاملMutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
AIMS Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutatio...
متن کاملDIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY
A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.
متن کاملTransgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy.
Multiple mutations in cardiac troponin I (cTnI) have been associated with familial hypertrophic cardiomyopathy. Two mutations are located in the cTnI inhibitory domain, a highly negatively charged region that alternately binds to either actin or troponin C, depending on the intracellular concentration of calcium. This region is critical to the inhibition of actin-myosin crossbridge formation wh...
متن کاملEnhanced myosin function due to a point mutation causing a familial hypertrophic cardiomyopathy.
Most cases of familial hypertrophic cardiomyopathy have been attributed to mutations in thick or thin filament proteins in the myofibrils of myocardial cells.1–3 In a minority of cases, particularly those involving myosin binding protein C, such mutations have been associated with enhanced myofibrillar function, which has been inferred from changes in force and the kinetics of force development...
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ژورنال
عنوان ژورنال: Pediatric Cardiology
سال: 2015
ISSN: 0172-0643,1432-1971
DOI: 10.1007/s00246-015-1250-1