Prenatal diagnosis of isolation of aortic brachiocephalic artery

Background Isolated aortic brachiocephalic artery (IABA) is a rare congenital aortic arch anomaly. It is difficult to diagnose IABA prenatally and the prevalence in the prenatal population is unknown. Purpose To evaluate the echocardiographic characteristics and associations in fetuses with IABA. Material and Methods We retrospectively analyzed all cases of prenatal diagnosis of IABA from January 2012 to November 2020 and reviewed the follow-up results. Copy Number Variation Sequencing (CNV-Seq) was performed using the biological specimens of the of the fetuses and family members. Results Ten cases (10/45652, 0.022%) of IABA were identified in our center. The prevalence of the cases with isolated left subclavian artery (ILSCA) in the right aortic arch (RAA) population was 0.98% (6/613). The ILSCA was the most common isolated arch branch. All the isolated branches were on the opposite side of aortic arch in all the cases. The “ice stick” sign in the coronal section could be seen in most cases of IABA. Of the 10 cases, 8 (8/10, 80%) were associated with tetralogy of Fallot (TOF). Two cases of IABA were combined with 22q11.2 deletion syndrome. Conclusion IABA is a rare aortic anomaly. ILSCA was the most common isolated arch branch and TOF was the most common associated intra-cardiac anomaly. The “ice stick” sign in the coronal section could indicate a diagnosis of the IABA.

Kommerell's diverticulum of retroesophageal aberrant brachiocephalic artery with right aortic arch in an adult

A retroesophageal aberrant brachiocephalic artery is a very rare congenital aortic arch anomaly. We herein presented a 29-year-old man with right aortic arch, retroesophageal aberrant left brachiocephalic artery, left ligamentum arteriosus, and absent left internal carotid artery. Graft replacement of the descending aorta and anatomical reconstruction of left brachiocephalic artery was successfully performed using a midline sternotomy approach without blood transfusion. We discuss the surgical management for Kommerell's diverticulum.

Chest Pain in the Patient with Arteria Lusoria: A Case Report

The most common anomaly of the aortic arch and its branches is the aberrant right subclavian artery – arteria lusoria. Usually, it produces dysphagia or dyspnea and chronic coughing.Our purpose is to underline that it is necessary to exclude the anomalies of the branches of the thoracic aorta, including arteria lusoria, in the patients with cardialgia of unknown origin.Clinical case. An 18-year-old female patient without a previously diagnosed chronic pathology was admitted to a hospital with chest pain after emotional stress for about an hour. The ECG revealed a sinus rhythm with a heart rate of 50 per minute, the normal direction of the electrical axis of the heart, the incomplete right bundle branch block, the negative T wave in the lead III. After excluding ischemic heart disease, acute coronary syndrome, pulmonary embolism, contrast-enhanced chest computed tomography revealed an aortic arch anomaly – a. lusoria.Conclusion. A. lusoria may manifest by cardiac pain. In patients with chest pain of unknown origin, it is advisable to include anomalies of the aorta and its branches, including the presence of the lusoria artery, in the range of differential diagnostics.

Aberrant Left Subclavian Artery-Esophageal Fistula in a Patient with a Prolonged Use of Nasogastric Tube: A Case Report and Literature Review

Arterial-esophageal fistula is a rare but potentially fatal complication. Right aortic arch with aberrant left subclavian artery is a rare congenital vascular anomaly that can cause esophageal compression, particularly when the proximal portion of the aberrant subclavian artery forms a Kommerell’s diverticulum. Prolonged use of a nasogastric tube can cause pressure necrosis of the esophagus. We report a patient with massive gastrointestinal bleeding secondary to aberrant left subclavian artery-esophageal fistula after a prolonged use of nasogastric tube. A high index of suspicion is essential for better prognosis when a patient with congenital aortic arch anomaly shows upper gastrointestinal hemorrhage.

Congenital kinking of aorta – A rare aortic arch anomaly

Congenital kinking of aorta or pseudocoarctation is a rare anomaly of the aortic arch with elongation and kinking of aorta at the level of ligamentum arteriosum. This anomaly is not a true coarctation as there is no significant hemodynamic obstruction or pressure gradient across the lesion. We report two cases with this anomaly diagnosed during the evaluation for incidental finding of murmur. Both patients had flow gradient across the kinked segment of aorta by echocardiography but did not require any intervention. Long term complication is aneurysmal dilatation and rupture beyond the kinked segment. Computed tomography of the aorta is a simple noninvasive diagnostic modality for the definitive diagnosis. Surgical repair should be performed for all symptomatic individuals. Regular periodic follow up is mandatory for all asymptomatic patients.

Dysphagia caused by an aberrant right subclavian artery

An aberrant right subclavian artery is the commonest aortic arch anomaly. Majority of them were asymptomatic. An aberrant subclavian artery is a rare cause of dysphagia in adults. This condition is also known as dysphagia lusoria. We report a case of dysphagia in a 49-year-old woman from an aberrant right subclavian artery. Diagnosis of her condition was made with barium swallow and MDCT (multidetector computed tomography) scan. She was managed conservatively.

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly, pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed a left-to-right shunt, two atrial septal defects, enlarging the right heart cavities. Routine cytogenetic analysis revealed a shortened 15 chromosome with an abnormally short ened long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletions detected in band 15q26.1-q26.3. Five candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2.Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).