Genetic diseases are persistent and often cause minor issues that can develop into more prominent problems later. Take neurofibromatosis type one, a common genetic disorder where a “loss of function” mutation occurs in the DNA encoding the protein neurofibromin. This protein is a critical regulator in cellular proliferation, and its loss can lead to the development of certain cancers and cardiovascular diseases.
The link between neurofibromatosis and cancer development is well known, but its role in cardiovascular disease remains unclear. A team from the University of Magna Graecia in Italy investigated the impact of neurofibromatosis type one on cardiovascular health to identify if patients with this disease have a higher risk of cardiovascular disease.
The team first assessed the vascular health of twenty-two neurofibromatosis type one patients by examining the vascular structure. Tests showed that neurofibromatosis patients had minor differences compared to healthy patients. In particular, the carotid artery walls were thicker in neurofibromatosis patients. This restricts blood flow, which can create a higher risk of cardiovascular disease if there is a lapse in cardiac health.
The functional difference between the two groups was more pronounced but still relatively minor. Exercise and oxygen deprivation tests showed neurofibromatosis patients had weaker cardiac strength. Heart rate was also higher in patients with neurofibromatosis, but blood chemistry was similar to healthy controls.
Over-all, this study suggests that patients with neurofibromatosis type one have minor changes in cardiac and vascular abilities. These changes are independent of cardiovascular diseases and are present in all ages. Patients with this disease should consider consistently checking their cardiovascular health, as these small changes are manageable but may increase the risk of other cardiovascular diseases.
The group concludes, “...in patients with NF1, alterations of vascular and cardiac function and morphology appear very early, and can be detected and followed over time. These findings might have significant clinical relevance suggesting a careful cardiovascular risk evaluation in subjects with NF1.”