Double aortic arch: implications of antenatal diagnosis, differential growth of arches during pregnancy, associated abnormalities and postnatal outcome.

OBJECTIVES: To evaluate the prenatal characteristics of double aortic arch (DAA), assess the relative size of the arches and their growth during pregnancy, describe associated cardiac, extracardiac and chromosomal/genetic abnormalities and review postnatal presentation and clinical outcome. METHODS: This was a retrospective cohort study of all fetuses with a confirmed diagnosis of DAA seen in five specialized referral centers in London, UK, between October 2012 and November 2019. Cases were identified from the hospitals' fetal databases. Fetal echocardiographic findings, intracardiac and extracardiac abnormalities, genetic defects, computed tomography (CT) findings and postnatal clinical presentation and outcome were evaluated. RESULTS: A total of 79 fetuses with DAA were included. Of those assessed postnatally, 48.6% had an atretic left aortic arch (LAA), while 5.1% had an atretic LAA at the first fetal scan and were misdiagnosed antenatally with right aortic arch (RAA). The LAA was atretic in 55.8% of those who underwent CT. DAA was an isolated abnormality in 91.1% of cases; 8.9% of patients had an additional intracardiac abnormality and 2.5% had both intra- and extracardiac abnormalities. Among the 52 cases that underwent genetic testing, 11.5% had genetic abnormalities and, specifically, the 22q11 microdeletion was identified in 3.8% of patients. At a median follow-up of 993.5 days, 42.5% of patients had developed symptoms of tracheoesophageal compression (5.5% during the first month after birth) and 56.2% had undergone intervention. Statistical analysis using the χ-square test showed no significant relationship between morphology of DAA (patency of both aortic arches vs atretic LAA) and the need for intervention (P = 0.134), development of vascular ring symptoms (P = 0.350) or evidence of airway compression on CT (P = 0.193). CONCLUSIONS: Most cases of DAA can be diagnosed easily at midgestation, as typically both arches are patent with a dominant RAA at this stage. However, we found that the LAA had become atretic in approximately half of the cases postnatally, supporting the theory of differential growth of the arches during pregnancy. DAA is usually an isolated abnormality; however, thorough assessment is required to exclude associated intra- and extracardiac anomalies and to determine the need for invasive prenatal genetic testing. Postnatally, early clinical assessment is needed and CT scan should be considered, irrespective of the presence of symptoms. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

[Isolated right aortic arch: prenatal diagnosis characteristics, pregnancy outcomes and systematic review]. / Crosse aortique droite isolée : caractéristiques du diagnostic anténatal, issues de grossesses et revue de la littérature.

OBJECTIVE: To investigate prenatal diagnosis characteristics and pregnancy outcomes associated with isolated right aortic arch (RAA). METHODS: A retrospective study including fetuses with isolated RAA, managed between January 2010 and February 2018. Cases were identified from the ultrasound databases of the expert pediatric cardiologists, who made the aforementioned diagnosis. All fetuses were examined by a fetal medicine imaging expert to exclude any extracardiac abnormality. A systematic review was performed to assess the prenatal diagnosis and outcomes of fetuses with isolated RAA. RESULTS: Fifty-six fetuses were diagnosed with an isolated RAA. An isolated double aortic arch (DAA) was diagnosed in one fetus. Mean gestational age at diagnosis was 24 weeks. The sex ratio (boy/girl) was 0.89. No significant abnormality was detected in invasive tests (karyotype and FISH or microarray). Only one fetus was misdiagnosed with isolated RAA. He was the only symptomatic (stridor) newborn baby and was later diagnosed with DAA. Four studies were included in our systematic review representing 115 cases of isolated RAA. One significant chromosomal abnormality was detected: a 22q11 deletion in a newborn baby who had a postnatal finding of a soft palate cleft. There was one major obstetric complication: an intrauterine fetal demise at 41 gestational weeks. CONCLUSION: Diagnosis of isolated RAA can be challenging. Invasive tests are to be discussed. The diagnosis of isolated RAA should not change obstetric monitoring. Nevertheless, an echocardiography should be performed systematically in these new newborn babies within their first month of life.

Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.

OBJECTIVE: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA). METHODS: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy. RESULTS: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four. CONCLUSION: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Crossed pulmonary arteries with hypoplasia of the transverse aortic arch.

BACKGROUND: The entity of crossed pulmonary arteries was first described by Jue, Lockman, and Edwards in 1966, in a patient with trisomy 18. Since then, several series have been described, both in terms of the isolated anatomic variant, or its association with other intracardiac or extracardiac anomalies. We describe a rare association that has previously not been reported. Methods and results Institutional Review Board approval for a retrospective chart review was obtained. Over the period 2011 through 2013, we have encountered six patients in whom the crossed origins of the pulmonary arteries from the pulmonary trunk were associated with hypoplasia of the transverse aortic arch, an association that, to the best of our knowledge, has previously not been reported. In all of the patients, the isthmic component of the aortic arch was inserted in an end-to-side manner into the ductal arch, with additional discrete coarctation in half of the patients. CONCLUSION: To the best of our knowledge, no cases of crossed pulmonary arteries have been described in association with hypoplasia of the transverse aortic arch. We draw comparisons between the cases with exclusively tubular hypoplasia, and those with the added problem of the more typical isthmic variant of aortic coarctation. In all cases, the ability to reconstruct cross-sectional images added significantly to the diagnosis and understanding of these complex lesions. These findings have specific surgical implications, which are discussed.

[Double aortic arch: prenatal case report]. / Podwójny luk aorty: opis przypadku.

We have presented a case of prenatal double aortic arch, diagnosed by ultrasound, to demonstrate the importance of 3-vessel view by detecting aortic arch abnormalities. Double aortic arch is one the most common types of the vascular ring. The suspicion of a double aortic arch is raised by detecting the U-sign which is formed by the combination of both aortic arches and the left ductus arteriosus. In the 3-vessel view the ascending aorta and aortic arch are pointing to the right, whereas the left arch points to the left, and the trachea is seen between. The 4-chamber view appears normal, but the descending aorta is deviated medially. Literature review revealed an association between double aortic arch and congenital heart diseases in approximately 20% of cases; most often tetralogy of Fallot, transposition of great vessels, ventricular septal defects. Rarely there can be atresia of the segment of the aortic arch, which can be difficult to differentiate from other aortic arch anomalies associated with chromosomal abnormalities such as microdeletion of chromosome 22q11.

Anomalies associated with aberrant right subclavian arteries. A case report

Anomalies in the aortic arch are a consequence of disorders in the development of the double primitive aortic arch system. We report a case of variation in the great vessels of the aortic arch, with an aberrant right subclavian artery being observed during a routine dissection. This variation was associated with a tight trachea in its distal end and a right lung devoid of the horizontal fissure, with a lack of tissue in the anterior segment of the superior lobe and in the lateral and medial segments of the middle lobe. The two common carotid arteries arose from a common trunk and the right recurrent laryngeal nerve was absent. On the basis of the literature, we review the incidence of the anatomical variation, its embryological explanation, and its clinical consequences (AU)

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Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism.

OBJECTIVE: MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. A common missense mutation in the MTHFR gene (C to T substitution at position 677) produces a variant with reduced enzymatic action. The aim of this retrospective case control study was to investigate whether the occurrence of the MTHFR polymorphism is increased in mothers and fathers of children with a congenital heart disease (CHD) in our population. METHODS: We genotyped 31 couples with CHD offspring and 31 control couples for this study by obtaining smears from buccal gingiva cells and analyzed these for the MTHFR polymorphism by hybridization on microarrays. RESULTS: Statistical significance was calculated using the chi-square test and Pearson-exact test, respectively. The prevalence of homozygosity or heterozygosity for the MTHFR polymorphism was not significantly increased in parents of CHD affected children. Nevertheless significance was observed for the association between aortic arch anomalies and the mothers. CONCLUSIONS: The results of this study do not show any significant association between the MTHFR C677T polymorphism and CHD in our population. Although the numbers are small (n = 3), the MTHFR (C677T) polymorphism may be linked to the development of aortic arch anomalies.

Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features.

BACKGROUND: Turner syndrome (TS) is associated with aortic coarctation and dissection; hence, echocardiographic evaluation of all patients is currently recommended. X-ray angiography in clinically symptomatic patients has suggested a range of other vascular anomalies, but the true prevalence of such lesions in TS is unknown. To better understand the prevalence and pathogenesis of cardiovascular defects in TS, we prospectively evaluated a group of asymptomatic adult volunteers with TS using magnetic resonance (MR) angiography. METHODS AND RESULTS: A total of 85 adults with TS and 27 normal female adult volunteers underwent gadolinium-enhanced 3D MR angiography. A high prevalence of aortic anomalies was seen in women with TS, including elongation of the transverse arch (49%), aortic coarctation (12%), and aberrant right subclavian artery (8%). Venous anomalies were also prominent, including persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%). None of these anomalies were found in healthy female controls. The constellation of elongation of the transverse arch, aortic coarctation, and persistent left superior vena cava was significantly associated with women with TS. Neck webbing and increased thoracic anterior-to-posterior dimension diameters were strong predictors for arterial and venous anomalies. CONCLUSIONS: Thoracic vascular anomalies are common in TS, occurring in approximately 50% of a group not preselected for cardiovascular disease. The highly significant association between neck webbing, increased chest diameter, and these vascular anomalies suggests that in utero, centrally localized lymphatic obstruction may contribute to these cardiovascular deformities in TS. Improved recognition of these often-undetected vascular lesions may be important for identification of patients in need of closer cardiovascular monitoring.

Risk of seizures in survivors of newborn heart surgery using deep hypothermic circulatory arrest.

OBJECTIVE: To identify pre- and intraoperative variables associated with postoperative acute neurologic events (ANEs), including seizures and coma, in newborn survivors of congenital heart surgery undergoing deep hypothermic circulatory arrest (DHCA), and to risk-stratify this population on the basis of preoperative risk variables for the purpose of designing future neuroprotection trials. METHODS: Survivors of newborn heart surgery who were enrolled in a neuroprotection trial provided a comprehensive database for the evaluation of pre- and intraoperative variables that influence the postoperative occurrence of ANEs (seizures or coma). Patients with hypoplastic heart syndrome were excluded. After characterization of the study population, stepwise logistic regression, combined with clinical judgment, was used to identify variables that were most likely to be associated with an increased risk of seizures in the study sample and that were most likely to be generalized to other populations. RESULTS: Data were available on 164 nonhypoplastic left heart syndrome survivors who underwent newborn heart surgery using DHCA. ANEs occurred in 31 (18.9%) including "seizures alone" (n = 28), "coma alone" (n = 2) or "seizures and coma" (n = 1). A preoperative risk model was constructed demonstrating that infants with a genetic condition and aortic arch obstruction had a 47.8% risk of ANEs compared with all other remaining infants, who had a 9.9% risk. It was also found that prolonged DHCA time (>or=60 minutes) can be a significant risk for infants who have a preexisting genetic condition; however, infants who have genetic conditions and do not undergo prolonged DHCA time or have an aortic arch obstruction are not at increased risk of ANEs. CONCLUSIONS: This study provides new information about the occurrence of ANEs after newborn heart surgery. Seizures or coma, which appeared in approximately 19% of all non-hypoplastic left heart syndrome survivors, were not random events but were significantly associated with specific types of congenital heart disease, the presence of genetic conditions, and prolonged DHCA time. The 3 identified variables permitted individual cases to be assigned to low-, intermediate-, or high-risk categories. Because neonatal seizures are a good surrogate marker of long-term neurologic outcome, these models provide useful information to stratify individual patients for risk of seizures in future neuroprotection trials.

HLA-D region genomic polymorphism associated with Takayasu's arteritis.

Takayasu's arteritis, with a strong predilection for women and particular geographic areas, has revealed significant association with human lymphocyte antigens (HLA) specificities. In the present study, the authors investigated for the first time the association of Takayasu's arteritis and HLA at the genomic level. By use of a restriction endonuclease Taq-I and a DQA cDNA probe, HLA-D region restriction fragment length polymorphism was examined in 32 Japanese patients. It was revealed that 65.6% of the patients shared a 6.6 kb fragment, although this fragment was found in 35.3% of the healthy Japanese (Chi square: 6.07, p less than 0.02). This finding suggest that HLA-D region gene variations determine susceptibility to Takayasu's arteritis.

[Takayasu's disease. A review of the literature. A study of a familial case of Takayasu's arteritis and the possible associations with type-1 diabetes mellitus]. / La malattia di Takayasu. Rassegna della letteratura. Studio di un caso familiare di arterite di Takayasu e possible associazione con il diabete mellito di tipo 1.

After a brief review of the literature on Takayasu's disease with particular emphasis on its relationship with the HLA system, the case of a mother and daughter both suffering from Takayasu's type systemic arteritis is presented with particular reference to a possible association with type-I diabetes mellitus (IDDM) in the light of the patient's HLA typing results.

Hereditary factors in Takayasu disease. III. Polymorphism of human complements.

Genetic polymorphisms in C2, C4, C6, C7 and BF alleles of human complement were studied in 80 Japanese patients with Takayasu disease, and compared with those of 433 normal Japanese. Statistically significant high frequencies of C4A2 (chi 2: 27.2; p less than 0.01) and C4BQ0 allotype (chi 2: 8.7; p less than 0.01) were found in patients with Takayasu disease. Furthermore, all patients carrying C4A2 were found to be associated with C4BQ0. In addition, patients with HLA Bw52 were strongly associated with C4A2BQ0. In 5 patients homozygous C4BQ0 was found. These data suggest that some genetic factor(s) may contribute to the pathophysiological condition of Takayasu disease, which is strongly associated with the complotype of HLA Bw52-C4A2BQ0.

Hereditary factors in Takayasu disease. II. Various blood types.

As HLA studies suggest that the genetic factors contributing to the pathogenesis of Takayasu disease may be polygene, various red blood types, allotypes of serum protein and red blood cell enzyme polymorphisms in eighty-four patients with Takayasu disease were studied and their phenotypes and gene frequencies were compared with those in healthy Japanese. Statistically significant high frequencies of phenotypes and/or gene frequencies were confirmed in MNSs, Rh-Hr, Tf, Gc and Pi in Takayasu disease, as compared with those in controls. These characteristics of gene frequencies were more remarkable in patients who do not carry HLA Bw52. These data suggest that the genetic factors contributing to the pathogenesis of Takayasu disease are polygene and may be located in chromosome No. 1, 4 and 14.

Male siblings with Takayasu's arteritis suggest genetic etiology.

Takayasu's arteritis is a nonspecific arteritis involving the aorta and its major branches. The disease mainly affects young females and familial incidence is uncommon. In this paper, two rare cases of male siblings with Takayasu's arteritis and the results of their HLA typing are described. The HLA haplotype of the two cases was completely identical--A2-B40-Cwl and A24(9)-Bw59-Cwl, DR2, and DR4. It is reported that Bw52(5) is strongly associated with the disease. However, in our cases, Bw52(5) was not found, while DR2 and DR4, which have been reported in association with several autoimmune disease, were detected. Accordingly, in these cases, genetic factors might be associated with the pathogenesis of the disease through an autoimmune mechanism.

Takayasu's disease in Arabs.

Four cases of Takayasu's disease in female Arabs are reported. All patients had classical features of the disease. Typing for HLA phenotype showed that all patients had HLA A2, A9, BW35 and DR7 antigens, suggesting an immunogenetic basis for the disease. As far as we know, this is the first report of Takayasu's disease in this ethnic group.