Hypertension in Two Sisters Caused by So‐called Fibromuscular Hyperplasia of the Renal Arteries

Hansen, Jacob; Holten, C; Thorborg, Jens Vilhelm

doi:10.1111/j.0954-6820.1965.tb04291.x

Cited by 26 publications

(3 citation statements)

References 13 publications

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“…FMD is an uncommon arterial disease, the cause of which remains unknown. A role for genetics in the pathogenesis is supported by a number of studies identifying FMD in family members, [8][9][10][11][12][13][17][18][19] association of FMD with a variety of genetic abnormalities, 7,[20][21][22][23][24] and the coexistence of FMD with Mendelian vascular connective tissue disorders. [25][26][27] Patients with FMD and a clinical phenotype consistent with these disorders may be referred for genetic counseling and eventual testing; however, the diagnostic yield of genetic testing for Mendelian connective tissue disorders in this population has not been determined.…”

Section: Discussionmentioning

confidence: 99%

“…Although multiple theories have been proposed, including genetic and environmental factors, such as estrogen exposure and tobacco use, 7 the etiology of FMD is unknown. A number of case reports describe FMD in siblings [8][9][10][11][12] and first degree cousins 13 and support a genetic contribution to the pathogenesis of the disease. The first formal genetic analysis was conducted by Rushton and colleagues in a study of 20 families in which at least one member had a diagnosis of FMD.…”

Section: Introductionmentioning

confidence: 99%

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Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia

et al. 2012

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Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified. Clinical characteristics were collected and genetic test results reviewed for abnormalities in the following genes: transforming growth factor-β receptor 1 and 2 (TGFβR1 and TGFβR2), collagen 3A1, fibrillin-1, smooth muscle α-actin 2, and SMAD3. A total of 63 patients (63/216; 29.2%) were referred for genetic counseling with testing performed in 35 (35/63; 55.6%). The percentage of patients with a history of arterial or aortic dissection, history of aortic aneurysm, systemic features of a connective tissue disorder, and a family history of sudden death was significantly larger in the group that underwent genetic testing (62.9% vs 18.2%, p < 0.001; 8.6% vs 1.7%, p = 0.02; 51.4% vs 17.1%, p < 0.001; and 42.9% vs 22.7%, p = 0.04, respectively). Two patients were found to have distinct variants in the TGFβR1 gene (c.611 C>T, p.Thr204lle and c.1285 T>C, p.Tyr429His). The yield of genetic testing for vascular connective tissue disorders was low in a high-risk subset of FMD patients. However, two patients with a similar phenotype had novel and distinct variants in the TGFβR1 gene, a finding which merits further investigation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia

et al. 2012

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“…Since 1960s to 1970s, a number of cases of familial FMD, i.e., occurrence of FMD in two or more siblings or relatives, have been reported [ 26 , 27 , 28 , 29 , 30 , 31 ]. We report a case of 3 siblings affected by hypertension and renal artery FMD followed at the Grand Hôpital de Charleroi, Gilly, Belgium ( Figure 1 ), as an illustration.…”

Section: Fmd As a Genetic Diseasementioning

confidence: 99%

Genomics of Fibromuscular Dysplasia

Monaco

Georges

Lengelé

et al. 2018

IJMS

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Fibromuscular Dysplasia (FMD) is “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (<5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease. Recent collaborative efforts allowed the identification of a first genetic locus associated with FMD. This intronic variant located in the phosphatase and actin regulator 1 gene (PHACTR1) may influence the transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. Interestingly, the PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease. National and international registries of FMD patients, with deep and harmonised phenotypic and genetic characterisation, are expected to be instrumental to improve our understanding of the genetic basis and pathophysiology of this intriguing vascular disease.

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The Genetics of Fibromuscular Dysplasia

Rushton¹

1980

Arch Intern Med

135

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Hypertension in Two Sisters Caused by So‐called Fibromuscular Hyperplasia of the Renal Arteries

Cited by 26 publications

References 13 publications

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia

Genomics of Fibromuscular Dysplasia

The Genetics of Fibromuscular Dysplasia

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