Cardiac characterization of 16 patients with large NF1 gene deletions.

  title={Cardiac characterization of 16 patients with large NF1 gene deletions.},
  author={Rosa L Nguyen and Thomas S. Mir and Lan Kluwe and K Jett and Michael Kentsch and Giesela Mueller and Hildegard Kehrer-Sawatzki and Jan M Friedman and V Mautner},
  journal={Clinical genetics},
  volume={84 4},
The aim of this study was to characterize cardiac features of patients with neurofibromatosis 1 (NF1) and large deletions of the NF1 gene region. The study participants were 16 patients with large NF1 deletions and 16 age- and sex-matched NF1 patients without such deletions. All the patients were comprehensively characterized clinically and by echocardiography. Six of 16 NF1 deletion patients but none of 16 non-deletion NF1 patients have major cardiac abnormalities (p = 0.041). Congenital heart… CONTINUE READING