title: [Disease progression and systolic dysfunction in patients with hypertrophic cardiomyopathy: genetic basis, pathophysiology and clinical presentation].
abstract: Progressive heart failure associated with left ventricular remodeling and systo-diastolic dysfunction is one of the most severe complications of hypertrophic cardiomyopathy (HCM). Such condition, for the lack of a better term, is referred to as end-stage (ES) HCM. During the last decade, we have begun to understand the mechanisms underlying progression from a hyperdynamic left ventricle to the striking patterns of ES. To date, different aspects of HCM progression remain obscure, including potential strategies for management and prevention. On the basis of recent evidence, it is appropriate to emphasize these aspects, which may be difficult to identify, particularly in the early stages when systolic function appears relatively preserved. Nevertheless, it is at these early stages that treatment may potentially interfere with the clinical evolution of HCM toward ES and heart failure. The possibility of early identification of patients at risk of ES progression may ultimately impact on the natural history of the disease in this challenging patient subgroup.
authors.affiliation: Centro di Riferimento per le cardiomopatie, Azienda Ospedaliera Universitaria Careggi, Firenze.
authors.forename: Giulia
authors.initials: G
authors.lastname: Poggesi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Ferrantini
authors.forename: Eleonora
authors.initials: E
authors.lastname: Servettini
authors.forename: Francesca
authors.initials: F
authors.lastname: Girolami
authors.forename: Franco
authors.initials: F
authors.lastname: Cecchi
authors.forename: Iacopo
authors.initials: I
authors.lastname: Olivotto
mesh_terms: D017668:Age of Onset; D024722:Cardiac Myosins / Q000235:genetics / Q000502:physiology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D002317:Cardiovascular Agents / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D017147:Defibrillators, Implantable; D018450:Disease Progression; D005355:Fibrosis; D005820:Genetic Testing; D006333:Heart Failure / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D016027:Heart Transplantation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008833:Microcirculation; D008955:Models, Cardiovascular; D018995:Myosin Heavy Chains / Q000235:genetics / Q000502:physiology; D012518:Sarcomeres / Q000502:physiology; D013599:Systole; D014463:Ultrasonography; D020257:Ventricular Remodeling; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002317:Cardiovascular Agents; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human