Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

Double Outlet Right Ventricle ◽

Interrupted Aortic Arch ◽

Left Ventricular ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome

American Journal of Forensic Medicine & Pathology ◽

10.1097/paf.0000000000000454 ◽

2019 ◽

Vol 40 (2) ◽

pp. 178-182

Author(s):

Norihiro Shinkawa ◽

Masatoshi Yamaguchi ◽

Mamoru Ozaki ◽

Nobuhiro Yukawa

Keyword(s):

Aortic Arch ◽

Neonatal Death ◽

Interrupted Aortic Arch ◽

Deletion Syndrome ◽

22Q11.2 Deletion

Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion

Cardiology in the Young ◽

10.1017/s1047951100005461 ◽

1999 ◽

Vol 9 (5) ◽

pp. 516-518 ◽

Cited By ~ 10

Author(s):

Kazuhiro Takahashi ◽

Takashi Kuwahara ◽

Masayoshi Nagatsu

Keyword(s):

Aortic Arch ◽

Digeorge Syndrome ◽

Septal Defect ◽

Left Ventricular Outflow Tract ◽

Interrupted Aortic Arch ◽

Left Ventricular ◽

22Q11.2 Deletion ◽

Left Ventricular Outflow

AbstractA 6-day-old male with interruption of the aortic arch at the isthmus (type A) had the typical phenotype of DiGeorge syndrome. There was also a doubly committed juxta-arterial ventricular septal defect and an unobstructed left ventricular outflow tract. Hypoplasia of the thymus was confirmed during a modified Blalock-Park operation. He had persistent hypocalcemia, and was susceptible to infection. He was subsequently revealed by the use of fluorescence in situ hybridization analysis to have 22q11.2 deletion. Interruption of the aortic arch at the isthmus is presumed to reflect abnormal fetal hemodynamics, and is considered a distinct pathogenetic entity from interruption between the left common carotid and subclavian arteries, the latter being the variant more frequently associated with DiGeorge syndrome. In our case, the 22q11.2 deletion likely played a major role in the etiology of the interrupted aortic arch.

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

Journal of Thoracic and Cardiovascular Surgery ◽

10.1016/j.jtcvs.2014.02.011 ◽

2014 ◽

Vol 148 (4) ◽

pp. 1597-1605 ◽

Cited By ~ 38

Author(s):

Michael L. O’Byrne ◽

Wei Yang ◽

Laura Mercer-Rosa ◽

Aimee S. Parnell ◽

Matthew E. Oster ◽

...

Keyword(s):

Aortic Arch ◽

Interrupted Aortic Arch ◽

Truncus Arteriosus ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Postoperative Course ◽

Operative Correction

Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

Journal of Cardiovascular Development and Disease ◽

10.3390/jcdd7020020 ◽

2020 ◽

Vol 7 (2) ◽

pp. 20

Author(s):

Catherine A. Stothard ◽

Silvia Mazzotta ◽

Arjun Vyas ◽

Jurgen E. Schneider ◽

Timothy J. Mohun ◽

...

Keyword(s):

Aortic Arch ◽

Regulatory Networks ◽

Genetic Interaction ◽

Heart Defects ◽

Double Outlet Right Ventricle ◽

Interrupted Aortic Arch ◽

Deletion Syndrome ◽

Cardiovascular Development ◽

Pharyngeal Endoderm ◽

Regulated Gene Expression

The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch and double outlet right ventricle, abnormalities that are a leading cause of morbidity in 22q11 Deletion Syndrome (DS) patients. We have recently shown that Pax9 functionally interacts with the 22q11DS gene Tbx1 in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos. Here, we describe the Gbx2-null cardiovascular phenotype and demonstrate a genetic interaction between Gbx2 and Pax9 in the pharyngeal endoderm during cardiovascular development.

Abstract 17250: Novel Association Of Left Ventricular Outflow Tract Obstructions With Chromosome 5p Deletions

Circulation ◽

10.1161/circ.144.suppl_2.17250 ◽

2021 ◽

Vol 144 (Suppl_2) ◽

Author(s):

Kira Mascho ◽

Svetlana Yatsenko ◽

Jiuann-huey I Lin

Keyword(s):

Aortic Valve ◽

Aortic Arch ◽

Heart Defects ◽

Male Infant ◽

Large Deletion ◽

Left Ventricular ◽

Outflow Tract ◽

Deletion Syndrome ◽

Chromosomal Microarray

Case Presentation: Patient 1: Female infant diagnosed with Cri du Chat Syndrome (CdCS) (Fig. 1A), hypoplastic left heart syndrome variant (Fig. 1 B), duodenal atresia (Fig. 1 E, F), IUGR. Chromosomal microarray (CMA) showed a 4.3 Mb deletion at 5p15.33 (Fig. 1A) and a 32.2 Mb duplication of 5q32. Dysmorphisms including hypertelorism, low set ears, and micrognathia were noted. Echocardiogram showed a hypoplastic left ventricle, mitral valve dysplasia (Fig. 1B), dysplastic aortic valve (Fig. 1C), interrupted aortic arch (Fig. 1D). Patient 2: Male infant prenatally diagnosed with aortic valve stenosis, aortic arch hypoplasia (Fig. 1H, I), and IUGR. Multiple dysmorphic features including microcephaly, hypertelorism, down slanting palpebral fissures, and abnormal distal extremities. CMA revealed a large deletion at 5p13.33-p13.2 (Fig 1G). He underwent aortic valvuloplasty complicated by development of a posterior left ventricular wall pseudoaneurysm (Fig. 1J). He later underwent arch reconstruction. At 2 months of age, he was diagnosed with obstructive jaundice requiring a biliary drain (Fig.1K, L). He had been gaining weight and height steadily (Fig.1M, N). We identified 5 more patients with 5p deletions and left outflow tract obstructions (LVOTO) from the Cytogenomics of Cardiovascular Malformations Consortium (Table 1). Discussion: CdCS is the most common 5p deletion syndrome and is associated with mild congenital heart defects in 15-30% of individuals. There is no reported association between LVOTO and 5p deletions. These 7 patients did not all share the same deletions and had high mortality. Further studies are needed to better understand possible genetic etiologies.

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Case Reports in Pediatrics ◽

10.1155/2016/8013530 ◽

2016 ◽

Vol 2016 ◽

pp. 1-6

Author(s):

Kazushi Yasuda ◽

Eiji Morihana ◽

Naoki Fusazaki ◽

Shiro Ishikawa

Keyword(s):

Aortic Arch ◽

Gene Mutation ◽

Charge Syndrome ◽

Interrupted Aortic Arch ◽

Deletion Syndrome ◽

Type B ◽

Cardiovascular Malformations ◽

22Q11.2 Deletion ◽

Dysmorphic Features

Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.

Surgical repair of interrupted aortic arch with ventricular septal defect

Cardiology in the Young ◽

10.1017/s1047951100006119 ◽

1998 ◽

Vol 8 (2) ◽

pp. 217-220 ◽

Cited By ~ 2

Author(s):

Lindsey D Allan ◽

Howard D Apfel ◽

Yosef Levenbrown ◽

Jan M Quaegebeur

Keyword(s):

Ventricular Septal Defect ◽

Aortic Arch ◽

Septal Defect ◽

Interrupted Aortic Arch ◽

Left Ventricular ◽

Subaortic Stenosis ◽

Current Debate ◽

Aortic Orifice

AbstractBackgroundInterrupted aortic arch is often associated with subaortic narrowing and hypoplasia of the aortic orifice. The best surgical strategy for the management of these additional lesions is a matter of current debate.Methods and ResultsBetween 1986 and 1996, 19 patients underwent repair of interrupted aortic arch with closure of ventricular septal defect in a single stage, with no attempt at subaortic resection, irrespective of the dimensions of the left ventricular outflow tract. There was no perioperative hospital mortality, and all patients were alive at 1 year. Follow-up ranges from 0.75 −10 years, with a mean 4.2 ± 3.0 years. Seven patients (37%) have required reintervention for relief of subaortic stenosis, 2 of whom have died.ConclusionsOur results suggest that primary one-stage biventricular repair can be accomplished with low perioperative mortality without addressing the subaortic region. Further long-term follow-up will determine whether this is accomplished at the expense of later morbidity and mortality.