Chest
Selected Reportsvon Recklinghausen Disease Complicated by Pulmonary Hypertension
Section snippets
Case 1
The first patient was a 19-year-old Japanese woman who had received a diagnosis of von Recklinghausen disease from her skin lesions at 5 years of age. She had progressive dyspnea, palpitation, and general fatigue on effort at the age of 15 years. Fourteen months later, she had an episode of chest pain and syncope when she rode a bicycle. Her first admission to our hospital was at the age of 16 years. She was in New York Heart Association (NYHA) functional class 2. Systemic multiple café-au-lait
Discussion
The prognosis is generally good in most patients with von Recklinghausen disease, but the course is occasionally complicated with systemic vasculopathy that results in renovascular hypertension, myocardial infarction, cerebral infarction, ischemic bowel disease, or rupture of an arterial aneurysm.23 Such vascular complications are major determinants of the morbidity and mortality in patients with von Recklinghausen disease.3 Samuels et al4 described a case complicated with pulmonary
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Cited by (31)
Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1
2019, Respiratory Medicine Case ReportsSevere 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].
World health organization group 5 pulmonary hypertension
2013, Clinics in Chest MedicineClassification of Pulmonary Hypertension
2012, Heart Failure ClinicsCitation Excerpt :The neurofibromatosis type 1 gene has been shown to modulate protein kinase B, which is an important regulator of cell proliferation. Lung fibrosis and CTEPH are thought to be the predominant pathologic mechanism for the development of PH in these patients; however, medial and/or intimal hypertrophy and fibrosis with narrowing of pulmonary arteries and veins on histologic examination have been identified and may also play a role.148–152 Rare cases of PH with a clinical presentation similar to PAH in patients with antineutrophil cytoplasmic antibodies–associated vasculitis have been reported; however, histologic data are not available.153
A consensus approach to the classification of pediatric pulmonary hypertensive vascular disease: Report from the PVRI Pediatric Taskforce, Panama 2011
2012, Revista Colombiana de CardiologiaDiagnosis and classifi cation of pulmonary hypertension
2010, Presse Medicale