Hipertensión pulmonar asociada a neurofibromatosis

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Abstract

La hipertensión pulmonar secundaria a enfermedades sistémicas corresponde a una asociación incluida en las últimas guías de diagnóstico y tratamiento de la hipertensión pulmonar de la Sociedad Europea de Cardiología; pero dada su heterogeneidad y rareza, no existe un sustento fisiopatológico. Presentamos el caso de una paciente con hipertensión pulmonar asociada a neurofibromatosis sin otra etiología demostrada

Translated abstract

Pulmonary hypertension secondary to systemic disease belongs to a partnership including in the latest guidelines for diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology, but given the heterogeneity and rarity, there is nopathophysiological support. We report a patient with pulmonary hypertension associated with neurofibromatosis without other etiology demonstrated

Translated abstract

A hipertensão pulmonar secundária a doenças sistêmicas foi incluindo nas diretrizes do diagnóstico e tratamento da hipertensão pulmonar da Sociedade Européia de Cardiologia, mas a fisiopatologia não é clara. Apresentamos um relato de caso do paciente com hipertensão pulmonar associada à neurofibromatose sem etiologia comprovada

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Most cited references 25

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Neurovascular manifestations of heritable connective tissue disorders. A review.

V Michels, Simone Schievink, D Piepgras (1994)

Heritable disorders of connective tissue are recognized in a small minority of patients with neurovascular diseases. In this report, we review the neurovascular manifestations of four heritable connective tissue disorders: Ehlers-Danlos syndrome, Marfan's syndrome, osteogenesis imperfecta, and pseudoxanthoma elasticum, as well as two other systemic disorders with potential vascular manifestations: neurofibromatosis and polycystic kidney disease. Typical neurovascular complications of Ehlers-Danlos syndrome are carotid-cavernous fistulae, intracranial aneurysms, and cervical artery dissections. Arterial dissections and intracranial aneurysms cause the majority of neurovascular symptoms in Marfan's syndrome. Neurovascular disease is uncommon in osteogenesis imperfecta, although carotid-cavernous fistulae and vertebral artery dissections have been reported. Neurovascular disease in pseudoxanthoma elasticum is characterized by intracranial aneurysms and cerebral ischemia caused by premature arterial occlusive disease. Intracranial occlusive arterial disease is the most common neurovascular manifestation of neurofibromatosis, followed by cervical arteriovenous fistulae and aneurysms and intracranial aneurysms. Intracranial aneurysms are the hallmark of polycystic kidney disease. Recognition of an underlying generalized connective tissue disorder may be of considerable importance, although marked phenotypic heterogeneity often complicates the diagnosis of these disorders. Conversely, the association of certain neurovascular anomalies with generalized connective tissue disorders and recognition of their basic molecular defect may offer clues to the etiology and pathogenesis of these neurovascular diseases in general.

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Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

S. Tu, Jay H Ryu, Makoto Kodama … (2007)

Neurofibromatosis type 1 (NF1) is a common disorder of dysregulated tissue growth secondary to mutations in the tumor suppressor gene NF1. Pulmonary arterial hypertension (PAH) in patients with NF1 is hypothesized to be secondary to an underlying vasculopathy. We describe the entity we term NF1-associated PAH (NF1-PAH) in four new patients and update the data on four previously published reports of patients with PAH and NF1. We performed genetic testing of the bone morphogenic protein receptor 2 (BMPR2) gene, which mutated in 70% of patients with familial PAH and approximately 25% of patients with idiopathic PAH. We report, for the first time, pathologic findings in the autopsy-obtained lung of one patient with NF1-PAH. Patients with NF1-PAH have a generally poor long-term prognosis. In four patients, we observed the mosaic pattern of lung attenuation on a CT scan of the chest, a radiographic finding that can be consistent with an underlying vasculopathy. No mutations or rearrangements in the BMPR2 gene were found. We observed complex plexiform lesions in the one available autopsy specimen. Similar lesions are a hallmark of plexogenic pulmonary arteriopathy and are associated with several severe types of PAH. (Plexiform lesions should not be confused with plexiform neurofibromas, which are distinctive tumors seen in NF1.) Our findings suggest that NF1 should be considered as being "associated with PAH as outlined in the Revised Clinical Classification of Pulmonary Hypertension. Understanding the mechanism of PAH in NF1 may inform the pathogenesis of PAH, NF1-PAH itself, and other NF1-associated vasculopathies. The pulmonary vasculature should now be included among the arterial beds affected by NF1 vasculopathy.

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Pulmonary hypertension in patients with neurofibromatosis type I.

David Montani, T Hugues, Caroline O’Connell … (2011)

Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which codes for tumor suppressor neurofibromin. NF1 is transmitted as an autosomal dominant and fully penetrant trait with no sex predominance. Precapillary pulmonary hypertension (PH) is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. We conducted this study to describe clinical, functional, radiologic, and hemodynamic characteristics and outcome of patients with NF1-associated PH. We identified 8 new cases of NF1-associated PH in patients carrying a NF1 gene mutation. No bone morphogenic protein receptor 2 (BMPR2) point mutation or large size rearrangements were identified. Seven female patients and 1 male patient were reported, suggesting a possible female predominance. PH occurred late in the course of the disease (median age, 62 yr; range, 53-68 yr). Dyspnea and signs of right heart failure were the major symptoms leading to the diagnosis of PH. At diagnosis, patients had severe hemodynamic impairment with low cardiac index (median, 2.3 L/min per m2; range, 1.9-4.7) and elevated indexed pulmonary vascular resistance (median, 15.1 mm Hg/L/min per m2; range, 4.5-25.9). All patients were in New York Heart Association functional class III with severe exercise limitation (median 6-min walk distance, 180 m; range, 60-375 m). Most patients had associated parenchymal lung disease, but some had no or mild lung involvement with disproportionate pulmonary vascular disease. Overall, the impact of PH therapy was limited and outcomes were poor. In conclusion, PH represents a rare but severe complication of NF1, characterized by female predominance, late onset in the course of NF1, and severe functional and hemodynamic impairment. Because of poor outcome and limited impact of specific PH therapy, eligible patients require early referral for lung transplantation. Further studies are needed to better understand the pathophysiology and the role, if any, of neurofibromin in NF1-associated PH.

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Author and article information

Contributors

Cristian Botta: Role: ND

Ricardo Fernández: Role: ND

Carlos Becker: Role: ND

Pablo Gaggiamo: Role: ND

Leandro Tomas: Role: ND

Mauro García: Role: ND

Mario Cibils: Role: ND

Gisela Gentineta: Role: ND

Journal

Journal ID (publisher-id): ic

Title: Insuficiencia cardíaca

Abbreviated Title: Insuf. card.

Publisher: Comité Insuficiencia Cardíaca (Ciudad Autónoma de Buenos Aires, , Argentina )

ISSN (Electronic): 1852-3862

Publication date (Print and electronic): March 2012

Volume: 7

Issue: 1

Pages: 43-47

Affiliations

[01] Ciudad de Santa Fe Santa Fe orgnameHospital Dr. José María Cullen orgdiv1Residencia de Cardiología República Argentina

[02] Ciudad de Santa Fe Santa Fe orgnameHospital Dr. José María Cullen orgdiv1Residencia de Clínica Médica República Argentina

Article

Publisher ID: S1852-38622012000100007

SO-VID: 61ac4887-e8b2-48ce-bce7-0ccf305bdcd9

License:

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

History

Date accepted : 28 March 2012

Date received : 09 January 2012

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Figures: 0, Tables: 0, Equations: 0, References: 18, Pages: 5

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SciELO Argentina

Keywords: Pulmonary hypertension,Neurofibromatosis,Hipertensión pulmonar,Hipertensão pulmonar,Neurofibromatose

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Keywords: Pulmonary hypertension, Neurofibromatosis, Hipertensión pulmonar, Hipertensão pulmonar, Neurofibromatose

Hipertensión pulmonar asociada a neurofibromatosis Translated title: Pulmonary hypertension associated to neurofibromatosis Translated title: Hipertensão pulmonar associada à neurofibromatose

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SciELO Argentina

Most cited references 25

Neurovascular manifestations of heritable connective tissue disorders. A review.

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

Pulmonary hypertension in patients with neurofibromatosis type I.

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