NF1: Cardiac Problems

In neurofibromatosis type 1 (NF1), congenital heart disease (2-4%) and hypertension (4%) are infrequent but can be serious complications. The most common associated lesion is valvar pulmonic stenosis. [Lin: 2000] A referral to cardiology and routine echocardiography are not indicated unless the patient has clinical findings.
Vasculopathies have been documented in NF1 and can involve the heart, renal arteries, and brain. [Friedman: 2002] Hypertension should be taken seriously in any individual with NF1 and blood pressure measurements performed at every visit. Hypertension may be the result of renal artery stenosis, coarctation of the aorta or, less commonly, pheochromocytomas [Xu: 1992]. Most NF1 individuals with hypertension, however, have typical essential hypertension. Given the possibility of other causes, a referral to nephrology and imaging studies to rule out renal artery stenosis are warranted. Every individual with NF1 should have four-extremity blood pressures checked at least once to help rule out coarctation, in addition to a detailed vascular exam. If the above evaluation is normal, a work-up for pheochromocytoma should be considered in individuals with hypertension and/or signs of excess catecholamine release.

Authors & Reviewers

Current Authors and Reviewers:
Author: David A. Stevenson, MD
Reviewers: Karin Dent, MS, CGC
David Viskochil, MD, Ph.D.

Page Bibliography

Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, McManus B, Korf BR.
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.
Genet Med. 2002;4(3):105-11. PubMed abstract
Summary of experts on NF1 from a task force meeting on cardiovascular disease in NF1, with recommendations on surveillance and diagnostic evaluation.

Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM.
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.
Am J Med Genet. 2000;95(2):108-17. PubMed abstract
Review of 2322 NF1 individuals from NF1 database documenting cardiovascular abnormalities seen in NF1.

Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CG, Ponder BA.
Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis.
Genes Chromosomes Cancer. 1992;4(4):337-42. PubMed abstract
Study reports the association of pheochromocytomas with NF1.