Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.1061
Abstract: Importance Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.… read more here.
Keywords: hypertrophic cardiomyopathy; rare common; genetic variants; hcm ... See more keywords
Energetic drain driving hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2019 at "FEBS Letters"
DOI: 10.1002/1873-3468.13496
Abstract: Hypertrophic cardiomyopathy (HCM) is the most common form of hereditary cardiomyopathy and is mainly caused by mutations of genes encoding cardiac sarcomeric proteins. HCM is characterized by hypertrophy of the left ventricle, frequently involving the… read more here.
Keywords: drain driving; energetic drain; hypertrophic cardiomyopathy; driving hypertrophic ... See more keywords
Lumican accumulates with fibrillar collagen in fibrosis in hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "ESC Heart Failure"
DOI: 10.1002/ehf2.14234
Abstract: Familial hypertrophic cardiomyopathy (HCM) is the most common form of inherited cardiac disease. It is characterized by myocardial hypertrophy and diastolic dysfunction, and can lead to severe heart failure, arrhythmias, and sudden cardiac death. Cardiac… read more here.
Keywords: hypertrophic cardiomyopathy; heart failure; accumulates fibrillar; hcm ... See more keywords
Therapeutic potential of AAV9-S15D-RLC gene delivery in humanized MYL2 mouse model of HCM
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Medicine"
DOI: 10.1007/s00109-019-01791-z
Abstract: Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder characterized by ventricular hypertrophy, myofibrillar disarray, and fibrosis, and is primarily caused by mutations in sarcomeric genes. With no definitive cure for HCM, there is an… read more here.
Keywords: rlc; hcm; s15d rlc; gene ... See more keywords
Neonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-019-03521-6
Abstract: Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition. The prognosis of HCM depends on the underlying… read more here.
Keywords: cardiac hypertrophy; diagnosis; hcm; review ... See more keywords
Fibrosis in hypertrophic cardiomyopathy: role of novel echo techniques and multi-modality imaging assessment
Sign Up to like & getrecommendations! Published in 2021 at "Heart Failure Reviews"
DOI: 10.1007/s10741-020-10058-6
Abstract: Hypertrophic cardiomyopathy (HCM) represents one of the primary cardiomyopathies and may lead to heart failure and sudden cardiac death. Among various histologic features of the disease examined, assessment of myocardial fibrosis may offer valuable information,… read more here.
Keywords: fibrosis; hypertrophic cardiomyopathy; modality imaging; hcm ... See more keywords
Heterogeneity of longitudinal and circumferential contraction in relation to late gadolinium enhancement in hypertrophic cardiomyopathy patients with preserved left ventricular ejection fraction
Sign Up to like & getrecommendations! Published in 2017 at "Japanese Journal of Radiology"
DOI: 10.1007/s11604-017-0700-5
Abstract: PurposeTo evaluate heterogeneity of myocardial contraction in relation to extensive late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) patients with preserved left ventricular ejection fraction, using fast strain-encoded magnetic resonance imaging.Materials and methodsTwenty-two HCM patients… read more here.
Keywords: heterogeneity; hcm patients; hcm; contraction relation ... See more keywords
Multimodality Imaging for Hypertrophic Cardiomyopathy
Sign Up to like & getrecommendations! Published in 2020 at "Current Treatment Options in Cardiovascular Medicine"
DOI: 10.1007/s11936-020-00827-9
Abstract: Hypertrophic cardiomyopathy, an inherited autosomal dominant disease, is the most common familial cardiovascular disorder and presents with heterogeneous pathobiological, clinical, and phenotypic features. This review will explore how multimodality cardiovascular imaging offers insight into understanding… read more here.
Keywords: multimodality; imaging hypertrophic; hypertrophic cardiomyopathy; anatomy ... See more keywords
Apical hypertrophic cardiomyopathy complicated by apical aneurysm
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Nuclear Cardiology"
DOI: 10.1007/s12350-020-02066-8
Abstract: A 65-year-old male with no prior medical history was referred for cardiac evaluation of exertional chest pain and dyspnea. His electrocardiogram (ECG) showed deep T-wave inversions (Figure 1). Cardiovascular examination did not reveal any murmurs,… read more here.
Keywords: myocardial perfusion; apical aneurysm; perfusion imaging; apical hypertrophic ... See more keywords
Five-year prognostic significance of global longitudinal strain in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes
Sign Up to like & getrecommendations! Published in 2019 at "Netherlands Heart Journal"
DOI: 10.1007/s12471-019-1226-5
Abstract: BackgroundPrevious studies have reported that global longitudinal strain (GLS) is reduced in patients with hypertrophic cardiomyopathy (HCM) while left ventricular ejection fraction (LVEF) is normal. Our aim was to assess GLS in individuals with HCM… read more here.
Keywords: mutation carriers; hcm; hypertrophic changes; global longitudinal ... See more keywords
Disclosure of diagnosis to at-risk relatives by individuals diagnosed with hypertrophic cardiomyopathy (HCM)
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Community Genetics"
DOI: 10.1007/s12687-018-0377-1
Abstract: Hypertrophic cardiomyopathy (HCM) affects 1 in 200 people and is the most common cause of sudden cardiac death in the young. Given that HCM usually is inherited in an autosomal dominant pattern, an HCM diagnosis… read more here.
Keywords: risk; diagnosis; hypertrophic cardiomyopathy; family ... See more keywords