{"id":7897,"date":"2025-02-20T14:43:23","date_gmt":"2025-02-20T14:43:23","guid":{"rendered":"https:\/\/www.nf-patients.eu\/magazine\/?p=7897"},"modified":"2025-02-20T14:43:25","modified_gmt":"2025-02-20T14:43:25","slug":"cardiovascular-symptoms-in-nf1","status":"publish","type":"post","link":"https:\/\/www.nf-patients.eu\/magazine\/cardiovascular-symptoms-in-nf1\/","title":{"rendered":"Cardiovascular symptoms in NF1"},"content":{"rendered":"\n

Cardiovascular Symptoms in Neurofibromatosis Type 1 <\/strong><\/p>\n\n\n\n

Neurofibromatosis comes in different forms and with a variety of symptoms. Some people with NF1 experiencecardiovascular issues such as heart problems. Studies show that cardiovascular symptoms are present in 27% of people with NF1, compared to 3.6% in the general public. The symptoms range from vasculopathy, hypertension, and congenital heart defects to the rare case of neurofibromas developing in the heart. Fortunately, these symptoms are unusual and not many people with NF1 experience them.<\/p>\n\n\n\n

Nevertheless, here is a quick overview of possible symptoms:<\/p>\n\n\n\n

Vasculopathy: <\/strong>NF1 can lead to vasculopathy, a condition affecting the blood vessels. NF1 vasculopathy can affect vessels ranging in size from the aorta (the largest artery in the body) to small arterioles and can cause vascular stenosis (narrowing of a vessel, which can reduce blood flow), artery occlusion (complete or partial blockage of an artery), aneurysm (an abnormal widening of a blood vessel due to a weakened vessel wall), pseudoaneurysm or rupture of the vein. Most NF1 patients with vasculopathy have multiple affected vessels. NF1 vasculopathy is usually recognized in childhood or early adulthood, often in association with pregnancy. Luckily, many affected patients remain asymptomatic throughout life.<\/p>\n\n\n\n

\"image\"<\/a>
A partial blockage of an artery where the plaque (the yellow mass) is narrowed and limits blood flow. <\/figcaption><\/figure>\n\n\n\n
\"image\"<\/a>
On the left is a normally functioning blood vessel and on the right is an abnormally broadened vessel, also called \u201caneurysm\u201d.<\/figcaption><\/figure>\n\n\n\n
\"image<\/a>
Veins can be affected by NF1 as well.<\/figcaption><\/figure>\n\n\n\n

Hypertension: <\/strong>Hypertension, or high blood pressure, is also common among NF1 patients, with its frequency increasing with age. It is especially prevalent in women with NF1 during pregnancy. Essential hypertension is the most common form in adults with NF1, but it is unclear if essential hypertension is a cause of NF1 or just a coincidental disease that is often recognized during a medical visit.<\/p>\n\n\n\n

Renal artery stenosis<\/strong>, which is decreased blood flow to the kidney, is a well-documented cause of hypertension in NF1 patients. It usually develops in childhood or young adulthood, often during pregnancy. Children with NF1 who have high blood pressure or an abnormal pulse should also be screened for a condition called aortic coarctation. This means that a part of the aorta is narrowed which can disrupt blood flow. Kidney-related blood vessel problems (such as the renovascular disease) should also be considered, especially in kids, young adults and pregnant women with Neurofibromatosis Type 1. While older people with NF1 are less likely to have this kidney-related condition, it can be present if their high blood pressure is very severe or resistant to treatment.<\/p>\n\n\n\n

Congenital heart defects: <\/strong>Congenital heart disease describes a range of birth defects that affect the way the heart works. <\/strong>The term “congenital” means the condition is present from birth on. Symptoms in babies and children include a rapid heartbeat, rapid breathing, swelling of the legs, tummy or around the eyes, extreme tiredness and fatigue or a blue tinge to the skin or lips. There are different types of CHD including septal defects (holes in the heart), coarctation of the aorta and an underdeveloped heart (where it\u2019s difficult to pump enough blood around the body or lungs). However, congenital heart defects (CHD) affect only about 6.4% of children with NF1. It can be confirmed by imaging tests and some symptoms don\u2019t need treatment (such as holes in the heart). <\/p>\n\n\n\n

\"Cholesteral<\/a><\/figure>\n\n\n\n

Recommendations for Evaluation and Management<\/strong><\/p>\n\n\n\n

Since all NF1 patients are more at risk of cardiovascular issues, they should undergo frequent checks. Especially patients who take MEK inhibitors should take the medical check-up seriously. This includes careful auscultation, blood pressure measurements, and echocardiography if a murmur is detected. Children suspected of having aortic coarctation should have blood pressure measurements in all four extremities. Patients diagnosed with congenital heart disease require ongoing monitoring and treatment suitable to their specific condition.<\/p>\n\n\n\n

In conclusion, the higher presence of cardiovascular symptoms in NF1 means that careful screening, an early diagnosis and appropriate management is important.<\/p>\n\n\n\n

Sources<\/strong>: <\/p>\n\n\n\n

Friedman, J., Arbiser, J., Epstein, J. et al.<\/em> Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force. Genet Med<\/em> 4, 105\u2013111 (2002). https:\/\/doi.org\/10.1097\/00125817-200205000-00002<\/a><\/p>\n\n\n\n

NHS (2022). Congenital heart disease<\/em>. nhs.uk. https:\/\/www.nhs.uk\/conditions\/congenital-heart-disease\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Cardiovascular Symptoms in Neurofibromatosis Type 1  Neurofibromatosis comes in different forms and with a variety of symptoms. Some people with NF1 experiencecardiovascular issues such as heart problems. Studies show that cardiovascular symptoms are present in 27% of people with NF1, compared to 3.6% in the general public. The symptoms range from vasculopathy, hypertension, and congenital heart defects to the rare case of neurofibromas developing in the heart. Fortunately, these symptoms are unusual and not many people with NF1 experience them. Nevertheless, here is a quick overview of possible symptoms: Vasculopathy: NF1 can lead to vasculopathy, a condition affecting the blood vessels. NF1\u2026<\/p>\n","protected":false},"author":7,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"advgb_blocks_editor_width":"","advgb_blocks_columns_visual_guide":""},"categories":[1],"tags":[],"acf":[],"author_meta":{"display_name":"magazineditor","author_link":"https:\/\/www.nf-patients.eu\/magazine\/author\/magazineditor\/"},"featured_img":null,"coauthors":[],"tax_additional":{"categories":{"linked":["Uncategorized<\/a>"],"unlinked":["Uncategorized<\/span>"]}},"comment_count":"0","relative_dates":{"created":"Posted 1 year ago","modified":"Updated 1 year ago"},"absolute_dates":{"created":"Posted on 20\/02\/2025","modified":"Updated on 20\/02\/2025"},"absolute_dates_time":{"created":"Posted on 20\/02\/2025 14:43","modified":"Updated on 20\/02\/2025 14:43"},"featured_img_caption":"","series_order":"","_links":{"self":[{"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/posts\/7897"}],"collection":[{"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/comments?post=7897"}],"version-history":[{"count":7,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/posts\/7897\/revisions"}],"predecessor-version":[{"id":8052,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/posts\/7897\/revisions\/8052"}],"wp:attachment":[{"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/media?parent=7897"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/categories?post=7897"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.nf-patients.eu\/magazine\/wp-json\/wp\/v2\/tags?post=7897"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}