Autosomal dominant vasovagal syncope

Klein, Karl Martin; Bromhead, Catherine J; Smith, Katherine R.; O’Callaghan, Christopher J.; Corcoran, Susan J.; Heron, Sarah E.; Iona, Xenia; Hodgson, Bree; McMahon, Jacinta M.; Lawrence, Kate; Scheffer, Ingrid E.; Dibbens, Leanne M.; Bahlo, Melanie; Berkovic, Samuel F.

doi:10.1212/wnl.0b013e31828cfad0

Cited by 20 publications

(11 citation statements)

References 38 publications

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“…Klein et al (52) studied 44 Australian families with a familial history of syncope and identified 6 families with apparent autosomal dominant inheritance. Microsatellite markers identified in the largest family an apparent locus in chromosome locus 15q26, but sequencing of nearby candidate genes did not reveal mutations.…”

Section: Genome-wide Association Studiesmentioning

confidence: 99%

The Search for the Genes of Vasovagal Syncope

Sheldon

Sandhu

2019

Front. Cardiovasc. Med.

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Only humans faint, and not all do so. Syncope tends to recur, and the predisposition to syncope can persist over many decades. Observations such as these have suggested that there may be a genetic predisposition to vasovagal syncope. It seems to have a high prevalence in some families; having a parent who faints increases the likelihood of an offspring fainting, and this is increased even further if both biological parents faint. Numerous studies have correlated a number of genotypes with positive tilt tests. However, the control subjects are usually those who faint, but have negative tilt tests, making the conclusions about association with the clinical phenotype less certain. Twin studies, highly focused genome-wide association studies, and gene duplicate studies all suggest there are sites in the genome that associate with vasovagal syncope, although the specific genes, pathways, and proteins are unknown. A recent large, candidate gene study of kindreds with high, multigenerational prevalence of the vasovagal syncope identified 3 genes that associate with vasovagal syncope. Our understanding of the genetic correlates of vasovagal syncope is in its infancy, with much to be understood.

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Section: Genome-wide Association Studiesmentioning

confidence: 99%

The Search for the Genes of Vasovagal Syncope

Sheldon

Sandhu

2019

Front. Cardiovasc. Med.

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“…19 The original findings of defective biogenic amine metabolism in a significant proportion of Rett syndrome subjects was confirmed and molecular animal studies utilizing severe and less severe human MeCP2 mutations strongly indicated the role of the MeCP2 gene in controlling neuronal specific genes and/or molecules involved in biogenic amine biosynthesis and related behavioral changes. Given the frequent familial nature of neurocardiogenic syncope and dysautonomia 20 , detailed molecular studies (such as whole exome analysis) will be of considerable interest in our cohort of patients with dysautonomia.…”

Section: Discussionmentioning

confidence: 99%

Biogenic amine metabolism in juvenile neurocardiogenic syncope with dysautonomia

Butler¹,

Lankford²,

Hashmi³

et al. 2014

Ann Clin Transl Neurol

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ObjectiveBiogenic amine brain levels and their cerebral metabolism are frequently studied by quantitation of biogenic amine metabolites in cerebrospinal fluid (CSF) compared to age-matched controls. There is a paucity of studies in adolescents and young adults investigating the potential role of disordered cerebral biogenic amine metabolism in young patients who have dysautonomia based on abnormal head-up tilt table (HUTT).MethodsIn a cohort of juvenile patients with neurocardiogenic syncope and dysautonomia documented by abnormal HUTT, biogenic amine metabolites of dopamine and serotonin were quantitated in 18 patients (15 females). HUTT testing is an effective clinical method to evaluate posturally induced physiological events in patients suspected of neurocardiogenic syncope with dysautonomia.ResultsLevels of the dopamine metabolite (homovanillic acid: HVA) and/or the serotonin metabolite (5-hydroxyindoleacetic acid: 5HIAA) were significantly reduced in 13 patients compared to age-matched controls.InterpretationPeripheral biogenic amines and their metabolites have been extensively studied in adults with dysautonomia due to various neurodegenerative disorders (Parkinson disease, multiple system atrophy, primary autonomic failure). Our findings indicate that more than two-thirds of this cohort of young patients with dysautonomia of variable severity have a defect in cerebral biogenic amines, particularly in dopamine and serotonin metabolism.

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“…What is the ratio between the different inheritance patterns of VVS? The findings reported in [ 25 ] provide a rough idea of this. Among the 44 multiplex families with VVS examined in [ 25 ], an autosomal dominant inheritance pattern was revealed in 6 families.…”

Section: The Inheritance Pattern Of Vvsmentioning

confidence: 95%

“…The findings reported in [ 25 ] provide a rough idea of this. Among the 44 multiplex families with VVS examined in [ 25 ], an autosomal dominant inheritance pattern was revealed in 6 families. The largest of these families included 30 subjects suffering from VVS in 3 generations; in the remaining 5 families, the number of subjects with VVS ranged from 4 to 14.…”

Section: The Inheritance Pattern Of Vvsmentioning

confidence: 95%

Towards Understanding the Genetic Nature of Vasovagal Syncope

Матвеева

Титов

Bazyleva

et al. 2021

IJMS

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Syncope, defined as a transient loss of consciousness caused by transient global cerebral hypoperfusion, affects 30–40% of humans during their lifetime. Vasovagal syncope (VVS) is the most common cause of syncope, the etiology of which is still unclear. This review summarizes data on the genetics of VVS, describing the inheritance pattern of the disorder, candidate gene association studies and genome-wide studies. According to this evidence, VVS is a complex disorder, which can be caused by the interplay between genetic factors, whose contribution varies from monogenic Mendelian inheritance to polygenic inherited predisposition, and external factors affecting the monogenic (resulting in incomplete penetrance) and polygenic syncope types.

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Autosomal dominant vasovagal syncope

Cited by 20 publications

References 38 publications

The Search for the Genes of Vasovagal Syncope

The Search for the Genes of Vasovagal Syncope

Biogenic amine metabolism in juvenile neurocardiogenic syncope with dysautonomia

Towards Understanding the Genetic Nature of Vasovagal Syncope

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