Frequency of Aberrant Subclavian Artery, Arch Laterality, and Associated Intracardiac Anomalies Detected by Echocardiography

Ramaswamy, Prema; Lytrivi, Irene D.; Thanjan, Maria T; Nguyen, Thieu; Srivastava, Shubhika; Sharma, Sangeeta; Ko, H. Helen; Parness, Ira A.; Lai, Wyman W.

doi:10.1016/j.amjcard.2007.10.036

Cited by 47 publications

(32 citation statements)

References 24 publications

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“…In a series of postnatal echocardiograms, the prevalence was estimated at 1% in the general population [8]. In an autopsy series, the prevalence of ARSAs was about 1.2% in the general population [1] and 2-36% in the group with trisomy 21 [2,19,20].…”

Section: Discussionmentioning

confidence: 99%

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Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Pico¹,

Mancini

Lafouge³

et al. 2016

Fetal Diagn Ther

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Objective: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA). Materials and Methods: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities. Results: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease. Conclusion: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.

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Section: Discussionmentioning

confidence: 99%

“…In the postnatal period, and most recently also in the prenatal period, ARSA was found significantly more often in subjects with congenital heart disease (CHD) [8] or chromosomal abnormalities, particularly trisomy 21 [9,10,11], with the relative risk multiplied by 3.94 [12]. …”

Section: Introductionmentioning

confidence: 99%

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Pico¹,

Mancini

Lafouge³

et al. 2016

Fetal Diagn Ther

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“…It occurs when the right fourth branchial arch artery and proximal portion of the right dorsal root aorta disappears, while the distal right dorsal root aorta persists [6]. Aberrant subclavian arteries have been found in 1–2% of pediatric patients who had echocardiograms and in cardiac autopsy specimens [7], [8]. Another frequent arch vessel abnormality is a right-sided aortic arch (RAA) which is caused by the persistence of the right dorsal root aorta and disappearance of the left fourth branchial arch artery and left dorsal root aorta [6].…”

Section: Introductionmentioning

confidence: 99%

“…Another frequent arch vessel abnormality is a right-sided aortic arch (RAA) which is caused by the persistence of the right dorsal root aorta and disappearance of the left fourth branchial arch artery and left dorsal root aorta [6]. A RAA is usually associated with a congenital heart malformation [8], [9].…”

Section: Introductionmentioning

confidence: 99%

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Corsten‐Janssen

Ravenswaaij-Arts

Kapusta

2016

IJC Heart & Vasculature

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BackgroundCHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects — including arch vessel anomalies.Methods and resultsWe report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery. This led us to examine the incidence of arch vessel anomalies in our previously studied cohort of 299 patients with a CHD7 mutation. Forty-two patients (14%) had an aortic arch anomaly, mostly aberrant subclavian artery or right aortic arch, which usually occurred in combination with other congenital heart defects (81%). The majority of these patients also had feeding problems that may be linked to their arch anomaly, but insufficient information was available to exclude other causes.ConclusionsArch vessel anomalies occur in a significant proportion of patients with a CHD7 mutation, and these anomalies may cause morbidity due to compression of the esophagus or trachea. Since symptoms of vascular compression can mimic those caused by other abnormalities in CHARGE syndrome, it is important to be aware of arch vessel anomalies in this complex patient category. Whether a solitary arch vessel anomaly is an indicator for CHARGE syndrome still needs to be studied, but doctors should look out for other CHARGE syndrome features in patients with arch vessel anomalies.

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“…Se trata de una variante que es imagen en espejo del cayado aórti-co izquierdo con ASDA y, por tanto, puede producir la misma sintomatología. En estos pacientes, además, son más prevalentes las anomalías cardiacas estructurales, principalmente la tetralogía de Fallot 6,7 . Aproximadamente dos tercios de los pacientes con ASDA o ASIA presentan una dilatación en su salida conocida como «di-vertículo de Kommerell», signo descrito por primera vez en el año 1936 en el contexto clínico de un paciente con disfagia 8 .…”

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Arco aórtico derecho, divertículo de Kommerell y arteria subclavia izquierda aberrante

Simón-Yarza

Viteri-Ramírez

Etxano

et al. 2011

Anales Sis San Navarra

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Frequency of Aberrant Subclavian Artery, Arch Laterality, and Associated Intracardiac Anomalies Detected by Echocardiography

Cited by 47 publications

References 24 publications

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Arco aórtico derecho, divertículo de Kommerell y arteria subclavia izquierda aberrante

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