title: The Genetic Challenges and Opportunities in Advanced Heart Failure.
abstract: The causes of heart failure are diverse. Inherited causes represent an important clinical entity and can be divided into 2 major categories: familial and metabolic cardiomyopathies. The distinct features that might be present in early disease states can become broadly overlapping with other diseases, such as in the case of inherited cardiomyopathies (ie, familial hypertrophic cardiomyopathy or mitochondrial diseases). In this review article, we focus on genetic issues related to advanced heart failure. Because of the emerging importance of this topic and its breadth, we sought to focus our discussion on the known genetic forms of heart failure syndromes, genetic testing, and newer data on pharmacogenetics and therapeutics in the treatment of heart failure, to primarily encourage clinicians to place a priority on the diagnosis and treatment of these potentially treatable conditions.
authors.affiliation: Advanced Heart Failure and Cardiomyopathy Program, Division of Cardiovascular Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Department of Internal Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Cardiovascular Genetics Program, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Fady
authors.initials: F
authors.lastname: Hannah-Shmouni
authors.affiliation: Advanced Heart Failure and Cardiomyopathy Program, Division of Cardiovascular Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Department of Internal Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Cardiovascular Genetics Program, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Sara B
authors.initials: SB
authors.lastname: Seidelmann
authors.affiliation: Adult Metabolic Diseases Clinic, Division of Endocrinology, Vancouver General Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Sandra
authors.initials: S
authors.lastname: Sirrs
authors.affiliation: Department of Internal Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Cardiovascular Genetics Program, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Arya
authors.initials: A
authors.lastname: Mani
authors.affiliation: Advanced Heart Failure and Cardiomyopathy Program, Division of Cardiovascular Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA; Department of Internal Medicine, Yale-New Haven Hospital, Yale School of Medicine, New Haven, Connecticut, USA. Electronic address: daniel.jacoby@yale.edu.
authors.forename: Daniel
authors.initials: D
authors.lastname: Jacoby
mesh_terms: D005820:Genetic Testing / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans