title: Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.
abstract: Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery-Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, MO.
authors.forename: R Brian
authors.initials: RB
authors.lastname: Sommerville
authors.affiliation: Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093.
authors.forename: Margherita Guzzi
authors.initials: MG
authors.lastname: Vincenti
authors.affiliation: Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Winborn
authors.affiliation: Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093.
authors.forename: Anne
authors.initials: A
authors.lastname: Casey
authors.affiliation: Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093.
authors.forename: Nathan O
authors.initials: NO
authors.lastname: Stitziel
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, MO.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
authors.affiliation: Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093. Electronic address: dmann@dom.wustl.edu.
authors.forename: Douglas L
authors.initials: DL
authors.lastname: Mann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D019033:Delivery of Health Care, Integrated; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006331:Heart Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D006334:Heart Function Tests; D006801:Humans; D007223:Infant; D033183:Interdisciplinary Communication; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009468:Neuromuscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010348:Patient Care Team; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D016896:Treatment Outcome; D055815:Young Adult
keywords: Heart disease; Heart failure; Multidisciplinary care; Neuromuscular disease