Congenital heart defects in Kabuki syndrome

Yuan, Shi‐Min

doi:10.5603/cj.2013.0023

Cited by 32 publications

(19 citation statements)

References 34 publications

(49 reference statements)

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“…With respect to congenital heart defects, the major types associated with Kabuki syndrome are left-sided obstructions and aortic dilation, coarctation of the aorta (COA), atrial septal defects (ASDs), ventral septal defects (VSDs), and tetralogy of Fallot (TOF), among others [ 32 , 33 ]. In our series, two patients presented with ASDs.…”

Section: Discussionmentioning

confidence: 99%

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

et al. 2015

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BackgroundKabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.MethodsWe retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D.ResultsThe patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations.ConclusionsThis is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.

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Section: Discussionmentioning

confidence: 99%

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

et al. 2015

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“…The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. MLL2 carriers obviously showed more frequently a typical facial gestalt compared with non-carriers [11].…”

Section: Discussionmentioning

confidence: 99%

Kabuki Make-up Syndrome – A Case Report with Electromyographic study

Sattur

Deshmukh

Abrahim

et al. 2014

JCDR

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“…Comparably, visceral cartilages were significantly affected in kmt2d zy59 embryos ( (34). The spectrum of CHD is wide, with prevalence of aortic coarctation, hypoplastic left heart and other left-sided obstructive defects (14,15,34). Previous studies of a mouse cardiomyocyte conditional kmt2d deletion demonstrated that Kmt2d is required in cardiac precursors and cardiomyocytes (22).…”

Section: Kmt2d Zy59 Mutants Exhibit Anomalous Palate Development and mentioning

confidence: 99%

“…Kabuki Syndrome type I (KS, OMIM#147920) is a rare multi-systemic disorder, manifested by craniofacial anomalies including cleft lip/palate and microcephaly, hearing loss, neurodevelopmental defects, epilepsy, skeletal and skin abnormalities, and congenital heart defects (CHD) (1) (2-4) (5-7) (8) (9)(10)(11). While there is variable expressivity of the clinical hallmarks (8,12), CHD is present in ~70% of KS patients, with a unique predilection for left-sided obstructive lesions, including hypoplastic aortic arch, coarctation of the aorta and hypoplastic left heart syndrome (13)(14)(15)(16)(17). De-novo pathogenic variants in Histone-lysine N-methyltransferase 2D (KMT2D) are causative in up to 76% of KS patients (18,19).…”

Section: Introductionmentioning

confidence: 99%

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

Serrano

Demarest

Tone-Pah-Hote

et al. 2018

Preprint

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Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D. However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized a zebrafish kmt2d null mutant that recapitulates the cardinal phenotypic features of Kabuki Syndrome, including microcephaly, palate defects, abnormal ear development and cardiac defects. The cardiovascular defects consist of abnormal aortic arches and hypoplastic ventricle, driven by previously unknown aberrant endocardial and endothelial vasculogenesis. We identify a regulatory link between the Notch pathway and Kmt2d during vasculogenesis and show that pharmacological inhibition of Notch signaling rescues the cardiovascular phenotype in zebrafish Kabuki Syndrome. Taken together these findings demonstrate that Kmt2d regulates vasculogenesis, provide evidence for interactions between Kmt2d and Notch signaling in Kabuki Syndrome, and suggest future directions for clinical research.

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Congenital heart defects in Kabuki syndrome

Abstract: their etiology, clinical presentations and long-term prognosis. (Cardiol J 2013; 20, 2: 121-124)

Cited by 32 publications

References 34 publications

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

Kabuki Make-up Syndrome – A Case Report with Electromyographic study

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

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