An overview of the current genetic and phenotypical selection strategies to reduce the prevalence of feline hypertrophic cardiomyopathy = Een overzicht van de huidige genetische en fenotypische selectiestrategieën tegen hypertrofe cardiomyopathie bij de kat [PDF]
, 2020 Hypertrophic cardiomyopathy (HCM) is a common and potentially lethal heart disease in cats. To reduce its prevalence, breeding cats are frequently screened on the basis of their phenotype or genotype.
Broeckx, Bart +3 more
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Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly [PDF]
Circulation: Cardiovascular Genetics, 2011 Background— Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7
Postma AV +15 more
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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]
, 2020 Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun +27 more
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Prenatal ultrasound diagnosis of
Ultrasound in Obstetrics & Gynecology, 2013 AbstractWe report on two prenatal ultrasound diagnoses of left ventricular non‐compaction cardiomyopathy (LVNC) associated with mutation of the cardiac β‐myosin heavy chain gene (MYH7). LVNC is characterized by a trabecular meshwork and deep intertrabecular myocardial recesses communicating with the left ventricular cavity. Clinical features range from
Hoedemaekers, YM +4 more
openaire +2 more sources
HYPERTROPHIC CARDIOMYOPATHY AND MYOCARDIAL CRYPT OF THE LEFT VENTRICLE
Российский кардиологический журнал, 2017 First time, myocardial clefty were described more than 20 years ago in autopsy of patients with hypertrophic cardiomyopathy (HCMP): the “fissure” along muscle fibers in interventricular septum.
Yu. V. Frolova +6 more
doaj +1 more source
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]
, 2016 Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo +11 more
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International Journal of Molecular Sciences, 2023 Missense mutations in myosin heavy chain 7 (MYH7) are a common cause of hypertrophic cardiomyopathy (HCM), but the molecular mechanisms underlying MYH7-based HCM remain unclear.
Alexander M. Loiben +8 more
semanticscholar +1 more source
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure [PDF]
, 2019 Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and ...
Ashley, Euan A. +34 more
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BioTechniques, 2020 Mutations in the human MYH7 gene, encoding a slow skeletal muscle/β-cardiac myosin heavy chain, cause different types of myopathies. The nematode model Caenorhabditis elegans has frequently been employed to study the molecular and physiological ...
Alejandro Gil-Gálvez +3 more
doaj +1 more source
Myocardial aging as a T-cell–mediated phenomenon [PDF]
, 2017 In recent years, the myocardium has been rediscovered under the lenses of immunology, and lymphocytes have been implicated in the pathogenesis of cardiomyopathies with different etiologies.
Abeßer, Marco +15 more
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