Case reportPulmonary Hypertension in Neurofibromatosis
Section snippets
Patient 1
A 60-year-old woman was referred for evaluation of PH. For 6 months, she had had exertional dyspnea, edema, and increasing abdominal girth. In childhood, she had had asthma and NF, with multiple café au lait spots identified. Cardiac catheterization showed PH, and the patient was started on amlodipine 5 mg/day without improvement. On examination, she had numerous café au lait spots over the trunk. The findings of diagnostic evaluation, treatment, and clinical course are listed in Table 1.
Patient 2
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Comments
Vascular involvement has been reported in NF and has predominantly involved histopathologic changes in systemic arteries, including the aorta and the renal, mesenteric, and, rarely, coronary arteries. Arterial involvement occasionally takes the form of multiple aneurysms but more commonly presents as occlusive disease of the smaller arteries. Histopathologic findings include diffuse intimal thickening and, in some cases, plexiform lesions.2, 3, 4
Early reports of pulmonary involvement in NF
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Cited by (25)
Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1
2019, Respiratory Medicine Case ReportsCitation Excerpt :Ventilation-perfusion scans and high-resolution CT scans of the chest can demonstrate bilateral filling defects as well as a mosaic pattern of the lungs, which represents irregular perfusion [14]. This finding on CT scan also supports the theory of vascular involvement as a cause of PAH [14]. There has been much debate over diffuse lung disease in NF1, as many different patterns of lung involvement can present in these patients [23].
Severe dyspnea in a patient with neurofibromatosis type 1
2017, Respiratory Medicine Case ReportsCitation Excerpt :NF1-PAH is an extremely severe complication of NF1 characterized by late onset, female predominance, severe hemodynamic impairment, poor response to PAH-specific therapy and poor outcome [11]. To the best of our knowledge, only twenty-one cases of NF1-associated PAH have been reported [11–19]. As these cases are rare and the underlying mechanisms are unclear and multifactorial, this entity has been listed in group 5 of the PH clinical classification [20].
Pulmonary complications of type 1 neurofibromatosis
2016, Revue des Maladies RespiratoiresCitation Excerpt :In this setting, vascular remodeling can be observed, in the form of plexiform lesions in the pulmonary arterioles that appear to contribute also to the development of pulmonary hypertension associated with Type 1 neurofibromatosis [36,41]. Lastly, the manifestation of interstitial lung disease that has been described by numerous authors in association with pulmonary hypertension could also play a role in the genesis of this disorder [42,43]. One study involving eight patients with type 1 neurofibromatosis associated with pulmonary hypertension has recently been published [44].
Genetics and genomics of pulmonary arterial hypertension
2013, Journal of the American College of CardiologyThe Phakomatoses
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsClassification of Pulmonary Hypertension
2012, Heart Failure Clinics