title: Impact of polymorphisms in the renin-angiotensin-aldosterone system on hypertrophic cardiomyopathy.
abstract: Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous autosomal dominant heart disease characterised by left ventricular hypertrophy in the absence of another cardiac or systemic disease that is capable of producing significant wall thickening. Microscopically it is characterised by cardiomyocyte hypertrophy, myofibrillar disarray and fibrosis. The phenotypic expression of HCM is multifactorial, with the majority of cases occurring secondary to mutations in genes encoding the sarcomere proteins. In conjunction with the genetic heterogeneity of HCM, phenotypic expression also exhibits a high level of variability even within families with the same aetiological mutation, and may be influenced by additional genetic factors. Polymorphisms of the renin-angiotensin-aldosterone system (RAAS) represent an attractive hypothesis as potential disease modifiers, as these genetic variants alter the 'activation status' of the RAAS, which leads to more left ventricular hypertrophy through different pathways. The main objective of this review is to provide an overview of the role of different polymorphisms identified in the RAAS, in patients with HCM.
authors.affiliation: Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain. eorenes@um.es
authors.forename: Esteban
authors.initials: E
authors.lastname: Orenes-Piñero
authors.forename: Diana
authors.initials: D
authors.lastname: Hernández-Romero
authors.forename: Eva
authors.initials: E
authors.lastname: Jover
authors.forename: Mariano
authors.initials: M
authors.lastname: Valdés
authors.forename: Gregory Y H
authors.initials: GY
authors.lastname: Lip
authors.forename: Francisco
authors.initials: F
authors.lastname: Marín
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics; D011110:Polymorphism, Genetic; D012084:Renin-Angiotensin System / Q000235:genetics*