title: Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy.
abstract: Left ventricular non-compaction cardiomyopathy (LVNC) is a unique cardiomyopathy with a current yield of about 30-40 % in identifying a causative gene mutation. A retrospective review of all patients with LVNC at our institution was performed and genetic testing was reviewed. Echocardiographic and cardiac magnetic resonance imaging was reviewed to corroborate the reported phenotype. We present a series of patients with LVNC dilated phenotype associated with fibrillin-1 gene mutations. Fifty-one patients were identified as having LVNC with reduced left ventricular function and/or left ventricular dilation. We retrospectively reviewed gene testing in this cohort when available and identified 5 patients (10 %) with an FBN1 gene mutation. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Derangements in fibrillin-1 may impact the compaction process resulting in LVNC. Although causation has not been proven by our report, it certainly raises interest in a possible mechanistic relationship between fibrillin-1 and LVNC given the increased prevalence of Marfan syndrome and fibrillin-1 gene mutations in this cohort.
authors.affiliation: Riley Hospital for Children at Indiana University Health, Indiana University School of Medicine, 705 Riley Hospital Drive, RR 127, Indianapolis, IN, 46202, USA. jjparent@iu.edu.
authors.forename: John J
authors.initials: JJ
authors.lastname: Parent
authors.affiliation: Division of Pediatric Cardiology, The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN, USA.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
authors.affiliation: The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
mesh_terms: D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000235:genetics*; D004452:Echocardiography; D000071838:Fibrillin-1 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012189:Retrospective Studies; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: Cardiomyopathy; Fibrillin-1; Heart failure; Left ventricular non-compaction; Marfan syndrome