Pattern and degree of left ventricular remodeling following a tailored surgical approach for hypertrophic obstructive cardiomyopathy. [PDF]
Background The role of a tailored surgical approach for hypertrophic cardiomyopathy (HCM) on regional ventricular remodelling remains unknown. The aims of this study were to evaluate the pattern, extent and functional impact of regional ventricular ...
Cecchi, F+8 more
core +2 more sources
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE+12 more
core +1 more source
Hypertrophic cardiomyopathy in athletes [PDF]
The diagnosis of hypertrophic cardiomyopathy can be challenging in the athlete. A morphologically mild phenotype of the condition may mimic physiological left ventricular hypertrophy and requires careful evaluation of the athlete with an array of clinical tools.
Malhotra, Aneil, Sharma, Sanjay
openaire +3 more sources
Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. [PDF]
Hypertrophic cardiomyopathy (HCM) is a common disease in pet cats, affecting 10-15% of the pet cat population. The similarity to human HCM, the rapid progression of disease, and the defined and readily determined endpoints of feline HCM make it an ...
Freeman, Lisa M+4 more
core +2 more sources
Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy. [PDF]
Contraction in the mammalian heart is controlled by the intracellular Ca2+ concentration as it is in all striated muscle, but the heart has an additional signalling system that comes into play to increase heart rate and cardiac output during exercise or ...
Marston, SB, Messer, AE
core +2 more sources
Valsartan for attenuating disease evolution in early sarcomeric hypertrophic cardiomyopathy: the design of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) trial [PDF]
Background: Hypertrophic cardiomyopathy (HCM) is often caused by sarcomere gene mutations, resulting in left ventricular hypertrophy (LVH), myocardial fibrosis, and increased risk of sudden cardiac death and heart failure.
Braunwald, Eugene+11 more
core +1 more source
Cardiac manifestations of PRKAG2 mutation. [PDF]
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza+3 more
core +1 more source
A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core +1 more source
Time spent with cats is never wasted: Lessons learned from feline acromegalic cardiomyopathy, a naturally occurring animal model of the human disease [PDF]
BackgroundIn humans, acromegaly due to a pituitary somatotrophic adenoma is a recognized cause of increased left ventricular (LV) mass. Acromegalic cardiomyopathy is incompletely understood, and represents a major cause of morbidity and mortality.
A Colao+80 more
core +2 more sources
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source