Abstract 17900: Sarcomere Gene Mutations in Left Ventricular Noncompaction

Introduction: Left ventricular noncompaction (LVNC) is a primary cardiomyopathy with heterogeneous genetic origins, however, the genetic basis of disease in a large proportion of patients with LVNC is still unresolved. We evaluated the potential clinical impact of genetic analysis of sarcomere genes in patients with LVNC. Methods: We investigated 93 Japanese LVNC patients, including 23 familial cases, for mutations of genes encoded sarcomeric proteins including myosin binding protein C (MYBPC3), β-myosin heavy chain (MYH7), α-tropomyosin (TPM1), cardiac troponin T (TNNT2), α-cardiac actin (ACTC) and cardiac troponin I (TNNI3). Of these 49 were infants and 44 were juvenile cases. Results: We identified 28 sarcomeric gene mutations in 32 patients (34%) including 17 infants and 15 juvenile cases . These mutations were distributed among 5 genes, 12 in MYH7 and 9 in MYBPC3, 3 in TPM1, 2 in TNNT2, and 2 in ACTC1. Nineteen (68%) of the mutations were novel, affected conserved amino acid residues and were predict...