Case report: Diagnosis of a double aortic arch in the primary care setting

ABSTRACT

A double aortic arch is a rare congenital heart anomaly not typically diagnosed in adults. It can present with nonspecific symptoms including dysphagia, a cough, and hoarseness which can lead to a delay in diagnosis or misdiagnosis. This case reviews a 44-year-old woman who presented with dysphagia and was diagnosed with a double aortic arch. The purpose of this case is to highlight how this rare congenital anomaly can present in adulthood in the primary care setting and to identify the possible work-up and management for these individuals.

Introduction

Vascular rings account for only 1% of all congenital heart diseases,[1] but the most common type is a double aortic arch.[2] A double aortic arch is a rare vascular anomaly in which a vascular ring encloses the trachea and esophagus. This develops due to the failed regression of the embryonic 4^th aortic arch. A double aortic arch is not typically diagnosed in adults. Generally, this would present in infancy or childhood with persistent wheezing, dyspnea, stridor, and recurrent lung infections leading to diagnosis and subsequent surgical correction. In adults, double aortic arches can present with chest pain, dysphagia, intermittent hoarseness[3] or be asymptomatic. Treatment can range from surgical correction to observation. This case study reviews a 44-year-old woman who presented in the primary care setting with dysphagia and was diagnosed with a double aortic arch which was managed conservatively. Within the primary care setting, it is important to consider common etiologies for a patient’s symptoms but to investigate more rare possibilities if symptoms persist.

Case Report

A 44-year-old woman presented to urgent care with dysphagia and a feeling that a lump was stuck in her throat for 20 days. At that time, her physical examination was unremarkable and she was directed to follow-up with her primary care provider (PCP). She had a medical history of well-controlled hypothyroidism, Epstein-Barr Virus (EBV), an appendectomy and palpitations. She was seen about 2 weeks later in her PCP office and was started on a trial of cetirizine 10 mg daily for potential seasonal allergies, and a thyroid ultrasound was ordered. She found no improvement with cetirizine 10 mg, and omeprazole 20 mg daily was ordered for possible reflux. Thyroid ultrasound demonstrated a normal thyroid and scattered coarse calcifications in the neck bilaterally, suggestive of calcified lymph nodes. Her PCP then ordered a CT neck with IV contrast for further characterization. The CT neck with IV contrast demonstrated small lymph nodes with punctate calcifications, likely secondary to a prior infection. Also noted was a double aortic arch circumferentially sounding the esophagus and trachea. The patient was referred to vascular surgery. An echocardiogram was normal other than redemonstrating the double aortic arch and more detailed imaging was performed with CT Angio Chest Thoracic Aorta with IV contrast [Figures 1-3]. She was evaluated by the vascular surgeon who reviewed her imaging, ordered an esophagram, and referred her to a cardiothoracic surgeon. The esophagram demonstrated some mild esophageal narrowing in the area of the double aortic arch. She was seen by a cardiothoracic surgeon who felt it was possible to cut the anterior arch to correct the obstruction around her esophagus and trachea, although her left carotid artery might have to be reconstructed to do that. However, because the patient was healthy without significant symptoms at that time, the recommendation was to consider reconstruction in the future if her symptoms changed. She was counseled on possible damage to her left recurrent laryngeal nerve with the surgery. The patient’s symptoms improved and were minimal to none, and therefore, the treatment was expectant management with plans to proceed to surgery if her symptoms progressed.

Figure 1.

Anterior view from 3-D reformats from CT Angio Chest Thoracic Aorta with IV contrast

Figure 3.

Coronal cross section view of double aortic arch

Figure 2.

Posterior view from 3-D reformats from CT Angio Chest Thoracic Aorta with IV contrast

Discussion

A double aortic arch is a rare vascular anomaly not typically diagnosed in adults. Generally, this would present in infancy or childhood with persistent wheezing, dyspnea, stridor, and recurrent lung infections leading to diagnosis and subsequent surgical correction. In adults, double aortic arches can present with chest pain, dysphagia, intermittent hoarseness or be asymptomatic.

Within the primary care setting, the differential diagnoses for these symptoms can be broad ranging from infectious, allergic, cardiac, respiratory, oropharyngeal, esophageal, medication-induced, or thyroid abnormalities.[4] This can result in misdiagnosis or a delayed diagnosis. This case report reviewed the presentation of a 44-year-old woman with dysphagia who was eventually diagnosed with a double aortic arch. Other cases of a double aortic arch diagnosed in adulthood have presented with dysphagia as well due to compression on the esophagus.[5,6] While vascular congenital anomalies are rare, it is important to consider more rare etiologies in patients with persistent symptoms.

Physical examination findings can often be unremarkable in adults with a double aortic arch. Diagnosis can be initially detected with a chest X-ray; however, these can often be normal in individuals with a double aortic arch.[7] A multislice spiral computed tomography (MSCT) is the recommended modality for diagnosis,[8] and further studies including an echocardiogram, MRI, and esophagram can further characterize these vascular anomalies and their effects on surrounding structures.

Treatment can also vary depending on the patient’s symptoms with the goal of relieving pressure on the trachea and esophagus. There is no standard of care in adults given how rare this condition is diagnosed in adulthood.[9] As in this case report, individuals with minimal to no esophageal or tracheal symptomatology, conservative management has been an acceptable form of treatment.[10] However, for patients with significant symptoms, surgical correction may be performed in which the larger arch remains patent and the smaller arch is divided and closed.

In primary care, accurate and timely diagnoses are essential for best patient outcomes. There can be multiple barriers to timely diagnosis particularly of rare diseases and pathology which include age, gender, and lack of knowledge.[11] Early detection is key and can prevent complications in children and adults alike. Antenatal diagnosis of a double aortic arch has been studied which could also help with early detection and diagnosis.[12] This case study aims to bolster the repository of differential diagnoses available to clinicians in the primary care setting and prevent delays in diagnosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.