Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS)

Sivasubramanian, Ramya; Meyers, Kevin

doi:10.1007/s11906-021-01136-7

Cited by 4 publications

(4 citation statements)

References 77 publications

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“…For example, Nf1 was reported to modulate vascular smooth muscle cell homeostasis in the vascular wall via the RAS signaling pathway ( 26 ). Genetic mutations in human NF1 is associated with the disease Neurofibromatosis type 1 , which is associated with an increased risk of hypertension ( 27 ).…”

Section: Discussionmentioning

confidence: 99%

Proteomic mapping reveals dysregulated angiogenesis in the cerebral arteries of rats with early-onset hypertension

Bastrup,

Jepps

2023

Journal of Biological Chemistry

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Section: Discussionmentioning

confidence: 99%

Proteomic mapping reveals dysregulated angiogenesis in the cerebral arteries of rats with early-onset hypertension

Bastrup,

Jepps

2023

Journal of Biological Chemistry

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“…Furthermore, specific clinical conditions, such as TS, could cause the risk of dissection at relatively small aortic diameters. Indeed, results from clinical trials suggest that the aortopathy in TS has a multifactorial origin related to genetic factors, the influence of estrogenic deficiency, and the predisposition of cardiovascular risk factors, including diabetes and hypertension; for this reason, regarding TS, all these factors must be monitored and treated early [ 38 , 39 ].…”

Section: Medical Treatment In Htadsmentioning

confidence: 99%

Hereditary Thoracic Aortic Diseases

Spaziani,

Surace,

Girolami

et al. 2024

Diagnostics

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Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

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“…It is generally "essential", can develop at any age, and increases with age. However, it can also be present as the result of renal artery stenosis, aortic coarctation, or other vascular lesions, such as midaortic syndrome, and can be caused by neuroendocrine tumors (pheochromocytoma, paraganglioma, and neuroblastoma) [64][65][66][67].…”

Section: Vascular Diseasesmentioning

confidence: 99%

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Peduto

Zanobio

Nigro

et al. 2023

Cancers

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, with a birth incidence of approximately 1:2000–3000, caused by germline pathogenic variants in NF1, a tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK pathway. This explains why NF1 is included in the group of RASopathies and shares several clinical features with Noonan syndrome. Here, we describe the main clinical characteristics and complications associated with NF1, particularly those occurring in pediatric age. NF1 has complete penetrance and shows wide inter- and intrafamilial phenotypic variability and age-dependent appearance of manifestations. Clinical presentation and history of NF1 are multisystemic and highly unpredictable, especially in the first years of life when penetrance is still incomplete. In this scenario of extreme phenotypic variability, some genotype–phenotype associations need to be taken into consideration, as they strongly impact on genetic counseling and prognostication of the disease. We provide a synthetic review, based on the most recent literature data, of all known genotype–phenotype correlations from a genetic and clinical perspective. Molecular diagnosis is fundamental for the confirmation of doubtful clinical diagnoses, especially in the light of recently revised diagnostic criteria, and for the early identification of genotypes, albeit few, that correlate with specific phenotypes.

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Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS)

Cited by 4 publications

References 77 publications

Proteomic mapping reveals dysregulated angiogenesis in the cerebral arteries of rats with early-onset hypertension

Proteomic mapping reveals dysregulated angiogenesis in the cerebral arteries of rats with early-onset hypertension

Hereditary Thoracic Aortic Diseases

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

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