Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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TAVI and Post Procedural Cardiac Conduction Abnormalities

Frontiers in Cardiovascular Medicine ◽

10.3389/fcvm.2018.00085 ◽

2018 ◽

Vol 5 ◽

Cited By ~ 14

Author(s):

Antonio Mangieri ◽

Claudio Montalto ◽

Matteo Pagnesi ◽

Giuseppe Lanzillo ◽

Ozan Demir ◽

...

Keyword(s):

Cardiac Conduction ◽

Conduction Abnormalities

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Abstract 331: Loss of Myosin Binding Protein H-Like Causes Cardiac Conduction Abnormalities

Circulation Research ◽

10.1161/res.125.suppl_1.331 ◽

2019 ◽

Vol 125 (Suppl_1) ◽

Author(s):

David Y Barefield ◽

Sean Yamakawa ◽

Ibrahim Tahtah ◽

Jordan J Sell ◽

Michael Broman ◽

...

Keyword(s):

Binding Protein ◽

Cardiac Conduction ◽

Myosin Binding Protein ◽

Conduction Abnormalities ◽

Myosin Binding

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Phenytoin-Induced Cardiac Conduction Abnormalities

Journal of Cardiac Critical Care TSS ◽

10.1055/s-0040-1718986 ◽

2020 ◽

Vol 4 (02) ◽

pp. 140-143

Author(s):

Glen Brown ◽

Wesley Jang ◽

Adam Peets ◽

Krishnan Ramanathan

Keyword(s):

Cardiac Conduction ◽

Qrs Complex ◽

Qtc Prolongation ◽

Contributing Factors ◽

Conduction Abnormalities ◽

St Elevation ◽

Electrophysiological Effects ◽

Vaughan Williams

AbstractPhenytoin possesses electrophysiological effects consistent with those of the Vaughan–Williams 1B classification. As such, phenytoin may widen the QRS complex but would not be expected to result in QTc prolongation or ST elevation. The reported case demonstrates these unexpected electrophysiological effects with supratherapeutic concentrations of phenytoin when no other potential cause could be elucidated. No contributing factors present in the case, compared with previously published reports of electrophysiological effects of supratherapeutic phenytoin concentrations, could be elucidated. The report suggests that clinicians should monitor for potential conduction abnormalities in patients with elevated phenytoin concentrations.

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