P2.238: Little Cough, Big Heart: An Abnormal Diagnosis for a Cough

Introduction: Cough is a common chief complaint in pediatrics. Although rare, cardiac causes of respiratory symptoms require timely evaluation. Respiratory complaints can result from heart disease. Despite advances in medicine, pediatric heart disease is often diagnosed later. In our patient's case, cardiomegaly was noted on X-ray, prompting a work-up that led to an unexpected diagnosis.

Case Description: Our patient is a 5-year-old male with no medical history presenting for an abnormal chest xray. He is reported to have 4-5 days of cough and fatigue with dyspnea for 2 weeks. In the emergency department, all vitals were stable and physical exam revealed no abnormalities. The chest xray was repeated and was concerning for cardiomegaly; cardiology was consulted. A bedside echo showed severe ascending aorta aneurysm and pericardial effusion. A CT angiogram was obtained that reported a large pericardial effusion, aneurysmal dilation of thoracic aorta measuring 8 cm. Due to the large aneurysm, there was narrowing of the left lower lobe mainstem bronchus. Connective tissue genetic testing was performed and positive for heterozygous LOX gene linked to autosomal dominant thoracic aortic aneurysms. The patient underwent surgery with a 16 mm conduit placed, and mass excised. The pericardial effusion was drained with no growth on culture. Our patient was discharged several days later.

Discussion: Aortopathy is a spectrum of disorders that lead to dilatation, aneurysm, or rupture of the aorta. Most aortopathies result from connective tissue disorders. Adult aortic pathologies are well-documented by the American Heart Association’s guidelines; however, pediatric patients are left out. The management of aortopathies in children differs from adults and encompasses reducing risk of rupture and reducing risk of recurrence.
While aortopathies can occur anywhere along the aorta, size, location, and pathology will dictate care. The location and pathology also determine the surgical and medical management. Medical management includes beta-blockers or angiotensin receptor blockers, both which reduce blood pressure and aortic root growth. Other medications should be avoided as they increase the risk of aneurysmal formation.
The genetics of aorthopathies are still being explored. Syndromes like Marfan Syndrome have well documented screenings and treatments aorthopathy. Even less common, there are idiopathic causes of aortopathies with no guidance on further investigation. Mutations in genes like LOX gene, which codes enzymes responsible for the extracellular matrix, can lead to familial aorthopathies.

Conclusion: While cough and dyspnea can be primary complaints in office visits or emergency rooms, consider uncommon causes of these symptoms. Aortopathy presents unique challenges in children due to ongoing growth and development. Communication between teams like the primary care, emergency services, and subspecialist is paramount for these patients. Comprehensive management strategies are essential to care when coupled with lifestyle modification and routine screening for progression of disease.