Pediatric Cardiology

, Volume 37, Issue 6, pp 1123–1126 | Cite as

Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy

  • John J. ParentEmail author
  • Jeffrey A. Towbin
  • John L. Jefferies
Original Article


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.


Cardiomyopathy Left ventricular non-compaction Heart failure Fibrillin-1 Marfan syndrome 


Compliance with Ethical Standards

Conflict of interest

The authors have no conflicts of interest to disclose.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • John J. Parent
    • 1
    Email author
  • Jeffrey A. Towbin
    • 2
  • John L. Jefferies
    • 3
  1. 1.Riley Hospital for Children at Indiana University HealthIndiana University School of MedicineIndianapolisUSA
  2. 2.Division of Pediatric Cardiology, The Heart InstituteLe Bonheur Children’s HospitalMemphisUSA
  3. 3.The Heart InstituteCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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