Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Campbell, Candace L.; Collins, R. Thomas; Zárate, Yuri A.

doi:10.1002/bdra.23324

Cited by 14 publications

(15 citation statements)

References 39 publications

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“…Since then, several cases have been reported and the associated cardiac abnormalities include ventricular septal defects, atrial septal defects, tetralogy of Fallot, pulmonary hypertension, hypoplastic pulmonary arteries, coarctation of aorta, hypoplastic left heart syndrome, and double-outlet right ventricle. 1,[3][4][5][6][7][8][9][10] Association of this syndrome with Shone's complex, as seen in our patient, has not been reported. Cardiac abnormalities are noted in approximately 41-50% of affected individuals.…”

Section: Discussionmentioning

confidence: 93%

“…Less than 110 cases of Kleefstra syndrome have been reported till date. 1 This syndrome is characterised by severe developmental delay, learning disability, hypotonia, microcephaly, seizures, and CHD. The first patient with this syndrome was reported in 1994 by Shimmenti et al 2 This male infant had characteristic facial and skeletal features and supraventricular tachycardia because of a concealed accessory pathway.…”

Section: Discussionmentioning

confidence: 99%

“…Cardiac abnormalities are noted in approximately 41-50% of affected individuals. 1,11,12 Kleefstra syndrome is caused by haplo-insufficiency of euchromatic histone methyltransferase-1 gene (EHMT1), a gene whose protein product (Eu-HMTase1) is a histone H3 Lys 9 (H3-K9) methyltransferase. H3-K9 histone methylation is restricted to the euchromatin of mammals and functions to silence individual genes.…”

Section: Discussionmentioning

confidence: 99%

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Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Kohli

2018

Cardiol Young

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Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone’s complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Kohli

2018

Cardiol Young

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“…Approximately 40-50% of individuals with Kleefstra syndrome have CHD, primarily ASD or VSD, TOF, aortic coarctation, BAV, and pulmonic stenosis [Kleefstra et al, 2009;Willemsen et al, 2012]. Hypoplastic left heart is rarely reported [Campbell et al, 2014].…”

Section: Kleefstra Syndromementioning

confidence: 99%

Cytogenomic Aberrations in Congenital Cardiovascular Malformations

Azamian¹,

Lalani²

2016

Mol Syndromol

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Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.

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“…Najczęściej jest to hipoplazja bądź agenezja ciała modzelowatego lub anomalie istoty białej podkorowej. Wrodzone wady serca w KS są dość częste [8]. Obserwowano również wrodzone wady w układzie moczowo--płciowym.…”

Section: Objawy Kliniczneunclassified

Kleefstra syndrome with congenital hypothyroidismin 4year old girl – the case report

Klatka¹,

Sekita-Krzak²,

Mertowski³

et al. 2015

Pediatr. Endocrinol.

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Kleefstra syndrome is neurodevelopmental, genetically conditioned disorder, which is characterised by a number of traits, mainly from the neurological system (mental retardation from moderate to severe, childhood hypotonia) and facial dysmorphy. Additionally the following are frequently present: microcephaly, epilepsy, behavioural problems, congenital heart malformations, urorenal defects and obesity. Kleefstra syndrome arises from haploinsufficiency of EHMT1 (the euchromatin histone-lysine N-methyltransferase 1) gene caused by either microdeletions at 9q34.3 or intragenic mutation. Either mutation or deletion (by microdeletions) of the EHMT1 gene results in the defective CNS development. In the present study we report on the case of a girl withcongentialhypothyroidism andKleefstra syndrome proved by genetic examination (a chromosome analysis using the aCHG technique), which showed deletion in the terminal band (9q34.3) of the long arm of chromosome 9, responsible for clinical characteristics of the patient.

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Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Cited by 14 publications

References 39 publications

Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Cytogenomic Aberrations in Congenital Cardiovascular Malformations

Kleefstra syndrome with congenital hypothyroidismin 4year old girl – the case report

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