scholarly journals LEFT VENTRICULAR MYOCARDIAL NON COMPACTION IN A CHILD AFFECTED BY CRI DU CHAT SYNDROME

2021 ◽  
Author(s):  
MARCELLO MARCI'
Keyword(s):  
Case Report ◽  
Congenital Heart Defect ◽  
Growth Retardation ◽  
Congenital Heart ◽  
Left Ventricular ◽  
Severe Disability ◽  
Cardiac Anomalies ◽  
Rare Association ◽  
Cri Du Chat Syndrome ◽  
Heart Defect

The following is a case report of an infant born with cri du chat syndrome that has evidence of left ventricular non compaction . Cri du chat syndrome is a rare association of growth retardation, intellectual severe disability, hypertelorism and typical catlike cry, typically combined to congenital heart defect, the occurrence of myocardial non compaction among the associated cardiac anomalies has not been reported so far.

scholarly journals Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

2012 ◽  
Vol 13 (1) ◽  
Author(s):  
Bihui Bao ◽  
Liang Zhang ◽  
Hua Hu ◽  
Shuxin Yin ◽  
Zhiqing Liang
Keyword(s):  
Case Report ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Single Copy ◽  
Heart Defect

Aneusomy by Recombination: A possible example involving the E18 chromosome

1969 ◽  
Vol 18 (2) ◽  
pp. 117-124 ◽  
Author(s):  
M. Bartalos ◽  
H. B. Richardson
Keyword(s):  
Congenital Heart Defect ◽  
Growth Retardation ◽  
High Frequency ◽  
Congenital Heart ◽  
Female Child ◽  
Terminal Segment ◽  
Crossing Over ◽  
Partial Deletion ◽  
Heart Defect

SummaryA 5 year old female child is described with mental and growth retardation, prominent occiput, low-set ears, moderate mid-face hypoplasia, congenital heart defect, mal-set toes, and a relatively high frequency of whorls on the fingers. The abnormal E18 chromosome found is thought to represent a partial deletion of the long arm with trisomy for a small terminal segment of the short arm as the result of a pericentric shift followed by crossing-over within the inverted shifted segment. Thus this case may represent a further example of “aneusomy by recombination”.

scholarly journals Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier

2018 ◽  
Author(s):  
Casey A. Gifford ◽  
Sanjeev S. Ranade ◽  
Ryan Samarakoon ◽  
Hazel T. Salunga ◽  
T. Yvanka de Soysa ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Nuclear Family ◽  
Induced Pluripotent Stem Cell ◽  
Missense Variant ◽  
Left Ventricular ◽  
Single Nucleotide Variants ◽  
Experimental Proof ◽  
Single Nucleotide ◽  
Heart Defect

AbstractComplex genetic inheritance is thought to underlie many human diseases, yet experimental proof of this model has been elusive. Here, we show that a human congenital heart defect, left ventricular non-compaction (LVNC), can be caused by a combination of rare, inherited heterozygous missense single nucleotide variants. Whole exome sequencing of a nuclear family revealed novel single nucleotide variants of MYH7 and MKL2 in an asymptomatic father while the offspring with severe childhood-onset LVNC harbored an additional missense variant in the cardiac transcription factor, NKX2-5, inherited from an unaffected mother. Mice bred to compound heterozygosity for the orthologous missense variants in Myh7 and Mkl2 had mild cardiac pathology; the additional inheritance of the Nkx2-5 variant yielded a more severe LVNC-like phenotype in triple compound heterozygotes. RNA sequencing identified genes associated with endothelial and myocardial development that were dysregulated in hearts from triple heterozygote mice and human induced pluripotent stem cell–derived cardiomyocytes harboring the three variants, with evidence for NKX2-5’s contribution as a modifier on the molecular level. These studies demonstrate that the deployment of efficient gene editing tools can provide experimental evidence for complex inheritance of human disease.One sentence summaryA combination of three inherited heterozygous missense single nucleotide variants underlying a familial congenital heart defect.

scholarly journals COMBINED SEVERE AORTIC AND PULMONARY VALVULAR STENOSIS IN A CHILD AND ITS MANAGEMENT: A CASE REPORT

2022 ◽  
Vol 54 (4) ◽  
pp. 377-379
Author(s):  
Usman Rashid ◽  
Rashid Nawaz ◽  
Zile Fatima ◽  
Shaifa Ashraf
Keyword(s):  
Case Report ◽  
Local Anesthesia ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Case Reports ◽  
Semilunar Valves ◽  
Rare Combination ◽  
Heart Defect ◽  
Valvular Stenosis

Combined congenital aortic and pulmonary valvular stenosis is a rare congenital heart defect. Prevalence of severe combined valvular stenosis of aortic and pulmonary valve accounts about 0.01% and also has association with many syndromes.  This combination presents unusual diagnostic as well as management problems. Apart from a few case reports, there is little in the literature on the combined stenosis of both semilunar valves and its management. We present this rare combination in a 9 year old boy which was promptly managed with the balloon valvoplasty without any complications in the same setting under local anesthesia with sedation.

Percutaneous device closure of aortico-left ventricular tunnel using Amplatzer vascular plug III

2012 ◽  
Vol 23 (5) ◽  
pp. 755-758 ◽  
Author(s):  
Eapen Thomas ◽  
Salim Maskari ◽  
Abdullah Farqani
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Left Ventricular ◽  
Amplatzer Vascular Plug ◽  
Device Closure ◽  
Vascular Plug ◽  
Heart Defect ◽  
First Case ◽  
Percutaneous Device ◽  
Percutaneous Device Closure

AbstractAortico-left ventricular tunnel is a rare congenital heart defect. Reports on successful device closure of these defects are scarce. We are reporting the first case of device closure of aortico-left ventricular tunnel using an Amplatzer vascular plug III.

Congenital heart defect: Shone’s complex (case report)

Pathology ◽  
2016 ◽  
Vol 48 ◽  
pp. S147
Author(s):  
Enkhee Ochirjav ◽  
M. Tsetsegdelger ◽  
B. Tuul ◽  
D. Batbaatar
Keyword(s):  
Case Report ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Complex Case ◽  
Heart Defect

Congenital heart defect in sibs with discordant karyotypes

1998 ◽  
Vol 80 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Maria Cristina Digilio ◽  
Bruno Marino ◽  
Salvatore A. Canepa ◽  
Umberto Borzaga ◽  
Aldo Giannotti ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Heart Defect
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