scholarly journals Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Euthymia Vargiami ◽  
Athina Ververi ◽  
Hamda Al-Mutawa ◽  
Georgia Gioula ◽  
Spyridon Gerou ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Dysmorphic Features ◽  
Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

2016 ◽  
Vol 150 (2) ◽  
pp. 112-117 ◽  
Author(s):  
Liyang Liang ◽  
Yingjun Xie ◽  
Yiping Shen ◽  
Qibin Yin ◽  
Haiming Yuan
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Limb Anomalies ◽  
Interstitial Duplication

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome.

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

2010 ◽  
Vol 155 (1) ◽  
pp. 203-206 ◽  
Author(s):  
Sultan Cingöz ◽  
Iben Bache ◽  
Lise Bjerglund ◽  
Hans-Hilger Ropers ◽  
Niels Tommerup ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Male Patient ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Interstitial Deletion

scholarly journals Images of Anomalous Origin of The Right Coronary Artery From the Pulmonary Artery

2019 ◽  
Vol 22 (4) ◽  
pp. E308-E309
Author(s):  
He Fan ◽  
Weng Jiakan ◽  
He Qicai ◽  
Qian Ximing ◽  
Chen Huaidong
Keyword(s):  
Coronary Artery ◽  
General Population ◽  
Pulmonary Artery ◽  
Coronary Arteries ◽  
Congenital Heart Defects ◽  
Right Coronary Artery ◽  
Congenital Heart ◽  
Heart Defects ◽  
Anomalous Origin ◽  
The Right

Anomalies of the coronary arteries -- especially their abnormal origin from the pulmonary artery (ARCAPA) trunk -- are among the least common. They’re also the most dangerous of congenital heart defects with an incidence of 0.002% in the general population [Williams 2006]. The diagnosis exceedingly is difficult because anatomical abnormalities of the coronary arteries are subtle. We present a case of an anomalous origin of the right coronary artery.

Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects

2018 ◽  
Vol 39 (5) ◽  
pp. 924-940 ◽  
Author(s):  
Ibtessam R. Hussein ◽  
Rima S. Bader ◽  
Adeel G. Chaudhary ◽  
Randa Bassiouni ◽  
Maha Alquaiti ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Copy Number Variants

scholarly journals Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

2019 ◽  
Vol 58 (5) ◽  
pp. 704-708 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects

CABG With Internal Thoracic Artery in Children With Congenital Heart Defects: A Good Option When It Is the Only One

2020 ◽  
Vol 11 (6) ◽  
pp. 748-752
Author(s):  
Christian Kreutzer ◽  
Gustavo Bastianelli ◽  
Benjamin Chiostri ◽  
Guillermo Gutierrez ◽  
Daniel Alberto Klinger ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Aortic Valve ◽  
Valve Replacement ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Internal Thoracic Artery ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Right Ventricular Outflow Tract ◽  
Pulmonary Valve Replacement

Objective: Coronary complications may present during or after repair of congenital heart defects. We report coronary artery bypass grafting (CABG) by internal thoracic artery (ITA) grafts to either coronary artery in children with congenital anomalies. Methods: Four cases who underwent CABG with ITA grafts from March 2016 to March 2020 were retrospectively reviewed. Results: At the time of operation, patient’s ages and weight were 7 and 20 months old and 14 and 15 years old and 6.5, 10, 40, and 45 kg, respectively. Diagnosis were anomalous origin of the left coronary artery from the pulmonary artery with leftward lateral ostial origin (n = 1), neopulmonary annulus hypoplasia post arterial switch with contiguous right coronary artery (RCA) arising from the left facing sinus (n = 1), RCA stenosis after the Ross procedure (n = 1), and right coronary ostial obstruction after aortic valve replacement in truncus arteriosus (n = 1). Procedures included left ITA to left coronary ostium (n = 1), right ventricular outflow tract (RVOT) enlargement with pulmonary valve replacement with left ITA to RCA (n = 1), RVOT enlargement with pulmonary valve replacement with right ITA to RCA (n = 1), and aortic valve re-replacement, pulmonary valve replacement, and right ITA to RCA (n = 1). At last follow-up, all four patients were asymptomatic, with normal ventricular function, and all grafts were patent. Conclusions: The use of CABG in children is valuable alternative when dealing with complex coronary anatomy not suitable for classic repairs. In children, graft patency is required to be longer than 50 years; therefore, use of arterial grafts seems mandatory.

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