Key result
Large NF1 gene deletions were associated with a higher rate of major cardiac abnormalities compared to NF1 patients without such deletions (37.5% vs 0%; p=0.041).
Why the study?
Do large NF1 gene deletions increase the risk of major cardiac abnormalities in patients with neurofibromatosis 1?
Case-Control (n=32)
Do large NF1 gene deletions increase the risk of major cardiac abnormalities in patients with neurofibromatosis 1?
Large NF1 gene deletions are associated with a significantly higher frequency of major cardiac abnormalities, including congenital heart defects and hypertrophic cardiomyopathy, warranting cardiological evaluation.
May warrant enhanced cardiac surveillance in NF1 with large deletions; hypothesis-generating and requires prospective confirmation.
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 defects (CHDs) include mitral insufficiency in two patients and ventricular septal defect, aortic stenosis, and aortic insufficiency in one patient each. Three deletion patients have hypertrophic cardiomyopathy. Two patients have intracardiac tumors. NF1 patients without large deletions have increased left ventricular (LV) diastolic posterior wall thickness (p < 0.001) and increased intraventricular diastolic septal thickness (p = 0.001) compared with a healthy reference population without NF1, suggestive of eccentric LV hypertrophy. CHDs and other cardiovascular anomalies are more frequent among patients with large NF1 deletion and may cause serious clinical complications. Eccentric LV hypertrophy may occur in NF1 patients without whole gene deletions, but the clinical significance of this finding is uncertain. All patients with clinical suspicion for NF1 should be referred to a cardiologist for evaluation and surveillance.
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Nguyen et al. (2012) conducted a case-control in Neurofibromatosis 1 (NF1) (n=32). Large deletions of the NF1 gene region vs. NF1 patients without large deletions was evaluated on Major cardiac abnormalities (p=0.041). Large NF1 gene deletions were associated with a higher rate of major cardiac abnormalities compared to NF1 patients without such deletions (37.5% vs 0%; p=0.041).
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