Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group.

A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared.

All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001).

Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.

The aim of the study was to perform CT angiography-based evaluation of aberrant right subclavian artery prevalence, anatomy, and its influence on clinical symptoms.

A total of 6833 patients who underwent 64-slice or dual-source CT angiography and those who revealed aberrant right subclavian artery underwent evaluation of its anatomy and were interviewed for the presence of clinical symptoms.

Aberrant right subclavian artery was found in 32 (0.47%) patients consisting of 13 males and 19 females, with mean age of 60.8±13.4 years. Among the interviewed 30 (94%) patients, oesophageal compression was observed in 14 cases (47%) and tracheal compression in three cases (10%). None of the patients underwent surgery related to aberrant right subclavian artery. Dysphagia was the most common clinical symptom in nine cases (30%), and in those patients the median distance between aberrant right subclavian artery and trachea was lower (4 mm) than in individuals without dysphagia (7.5 mm) (p = 0.009). The median lumen area of the aberrant right subclavian artery at the level of oesophagus was higher in patients with dysphagia (208 mm2) compared with individuals without dysphagia (108 mm2) (p = 0.01).

Aberrant right subclavian artery is a rare occurring abnormality in CT angiography. In the evaluated adult population, the most common symptom was dysphagia, which occurred in patients with decreased distance between aberrant right subclavian artery and trachea and increased lumen area of the aberrant artery at the level of compressed oesophagus.

A vascular ring refers to encirclement of the trachea and oesophagus by an abnormal combination of derivatives of the aortic arch system. These malformations can cause variable degrees of compression of the oesophagus, trachea or both. Symptoms can range from no effect to severe stridor, dyspnoea and/or dysphagia.

This study presents a case series of six patients treated over a six-year period (2003–2009), illustrating the features of four different types of vascular ring; these types are discussed in detail. The clinical presentation, radiology, and microlaryngoscopy and bronchoscopy findings are also discussed.

The management of children with vascular rings requires a high index of clinical suspicion to ensure prompt diagnosis. As many of these children present with airway symptoms, the paediatric otolaryngologist plays a key role in identifying and assessing their anatomical anomalies.