The Heart in Neurofibromatosis 1

Bergqvist, Christina; Wolkenstein, Pierre

doi:10.1007/978-3-030-54779-0_7

Cited by 1 publication

(2 citation statements)

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“…The incidence of congenital heart defects in NF1 patients as 10 times higher than the general population, thus strongly warranting early diagnosis by a cardiologist to avoid future hemodynamic consequences. 73,74 Moyamoya syndrome (MMS), the most prevalent type of NF1-associated cerebral vasculopathy is developed in 2-6% of children with NF1 and can be a driving force leading to ischemic and hemorrhagic stroke. Recent studies have shed light on the impact of cerebral vasculopathy on the outcome and quality of life of patients with NF1.…”

Section: Skeletal Deformitiesmentioning

confidence: 99%

“…93 The ages at which cardiovascular complications arise in NF1 patients vary, but for those that present with cerebral or arterial vasculopathy or congenital heart defects, early diagnosis and lifetime follow up may be required. 73,75 Dermatologists who are familiar with NF1 are highly sought after, as resection technique is important in preventing new and recurrent CN growth. Dermatologists perform surgical resection, laser ablation, electrodessication, or biopsy of cutaneous manifestations of NF1 including CALM, CN and SCN, either under general or local anesthesia.…”

Section: Components Of a Nf1 Multidisciplinary Care Teammentioning

confidence: 99%

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Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Lalvani,

Brown

2024

JMDH

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Neurofibromatosis Type I (NF1) is a complex genetic condition that affects multiple organ systems and presents a unique set of challenges for clinicians in its management. NF1 is a tumor predisposition syndrome that primarily affect the peripheral and central nervous systems via the impact of haploinsufficiency upon neural crest lineage cells including Schwann cells, melanocytes, fibroblasts, etc. NF1 can further lead to pathology of the skin, bones, visual system, and cardiovascular system, all of which can drastically reduce a patient's quality of life (QOL). This review provides a comprehensive examination of the many specialties required for the care of patients with Neurofibromatosis Type 1 (NF1). We delve into the pathogenesis and clinical presentation of NF1, highlighting its diverse manifestations and the challenges they pose in management. The review underscores the importance of a multidisciplinary approach to NF1, emphasizing how such an approach can significantly improve patient outcomes and overall QOL. Central to this approach is the role of the NF expert, who guides a multidisciplinary team (MDT) comprising healthcare professionals from many areas of expertise. The MDT collaboratively addresses the multifaceted needs of NF1 patients, ensuring comprehensive and personalized care. This review highlights the need for further investigation to optimize the workflow for NF1 patients in an MDT setting, and to improve implementation and efficacy.

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Section: Skeletal Deformitiesmentioning

confidence: 99%