title: Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
abstract: Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. Heart failure developed up to 5 years later. Symptoms of right heart failure, including diarrhoea and peripheral oedema, preceded a rapid decline in left ventricular ejection fraction. Recommendations for cardiac surveillance and management in these patients are made.
authors.affiliation: 1Department of Pediatrics,University of Connecticut School of Medicine,Connecticut Children's Medical Center,Hartford,Connecticut,United States of America.
authors.forename: Felice
authors.initials: F
authors.lastname: Heller
authors.affiliation: 2AP-HP,Pediatric Department,Raymond Poincaré Hospital,University Hospitals of West Paris,Garches,France.
authors.forename: Ivana
authors.initials: I
authors.lastname: Dabaj
authors.affiliation: 3Department of Pediatrics,University of Calgary,Calgary,Alberta,Canada.
authors.forename: Jean K
authors.initials: JK
authors.lastname: Mah
authors.affiliation: 2AP-HP,Pediatric Department,Raymond Poincaré Hospital,University Hospitals of West Paris,Garches,France.
authors.forename: Jean
authors.initials: J
authors.lastname: Bergounioux
authors.affiliation: 2AP-HP,Pediatric Department,Raymond Poincaré Hospital,University Hospitals of West Paris,Garches,France.
authors.forename: Aben
authors.initials: A
authors.lastname: Essid
authors.affiliation: 4Neuromuscular and Neurogenetic Disorders of Childhood Section,National Institute of Neurological Disorders and Stroke,National Institutes of Health,Bethesda,Maryland,United States of America.
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.affiliation: 5Cure Congenital Muscular Dystrophy and Kaiser SCPMG,Los Angeles,California,United States of America.
authors.forename: Anne
authors.initials: A
authors.lastname: Rutkowski
authors.affiliation: 6Sorbonne Universités,UPMC Univ Paris 06,Inserm UMRS974,CNRS FRE3617,Center for Research in Myology,Paris,France.
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.affiliation: 2AP-HP,Pediatric Department,Raymond Poincaré Hospital,University Hospitals of West Paris,Garches,France.
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.affiliation: 6Sorbonne Universités,UPMC Univ Paris 06,Inserm UMRS974,CNRS FRE3617,Center for Research in Myology,Paris,France.
authors.forename: Karim
authors.initials: K
authors.lastname: Wahbi
mesh_terms: D000293:Adolescent; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D015150:Echocardiography, Doppler; D015716:Electrocardiography, Ambulatory; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006333:Heart Failure / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010166:Palliative Care / Q000379:methods*; D017410:Practice Guidelines as Topic
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Lamin A/C LMNA; arrhythmia; automatic implantable cardiac defibrillator; cardiomyopathy; congenital muscular dystrophy