Cardiac Tamponade in Down's Syndrome Associated With Hypothyroidism: An Uncommon Presentation

Abstract

Down syndrome often coincides with hypothyroidism, a condition that may lead to pericardial effusion (PE), though cardiac tamponade remains an infrequent complication. Cardiac tamponade is an emergency that requires immediate diagnosis and treatment. Here, we present a case of a patient who presented to the emergency department (ED) with Down syndrome associated with hypothyroidism and underwent immediate pericardiocentesis and pericardial window placement. A 52-year-old male, with a history of Down's syndrome and hypothyroidism, presented to the ED complaining of shortness of breath and chest pain. He had previously been diagnosed with PE. On examination, he exhibited average heart rate, low blood pressure, decreased heart sounds, and jugular venous distention, with no murmur or frictional rub. Initial investigations revealed normal sinus rhythm on EKG but an enlarged cardiac silhouette on chest X-ray. Laboratory tests showed elevated C-reactive protein and sedimentation rate, suggestive of inflammation, while arterial blood gas showed compensated respiratory alkalosis. Thyroid-stimulating hormone (TSH) was elevated. Despite supplemental oxygen, the patient's condition worsened, prompting a bedside ultrasound revealing cardiac tamponade. A cardiology consultation recommended immediate transfer for treatment. At a different hospital, pericardiocentesis was performed, followed by the placement of a pericardial window to prevent recurrence. Follow-up imaging showed improvement in pleural effusion and resolution of cardiac tamponade. The patient's symptoms improved, and he was discharged with regular follow-up. Down's syndrome is a chromosomal disorder characterized by the trisomy of chromosome 21. It is associated with various cardiac complications. Such patients have an elevated risk of PE due to a variety of reasons, such as viral infections, hypothyroidism, or autoimmune diseases. Although PE has been found, the incidence of cardiac tamponade has rarely been reported. The pathogenesis of PE in hypothyroidism is due to the leakage of fluids from the capillaries and the build-up of fluid in the pericardial space. The treatment of PE is treating hypothyroidism with thyroxine. In rare cases like ours, when the patient develops cardiac tamponade, the patient often needs pericardiocentesis. Our patient had to undergo pericardial window placement, as well to prevent recurrent symptoms. In conclusion, this case report sheds light on the occurrence of cardiac tamponade in a patient with Down's syndrome and hypothyroidism, a relatively rare complication that necessitates prompt recognition and intervention. Through this report, we emphasize the importance of considering cardiac tamponade in the differential diagnosis of patients with Down's syndrome presenting with symptoms suggestive of cardiovascular compromise.

Keywords: critical care; down's syndrome; hypothyroidism; pericardial effusion and cardiac tamponade; transthoracic echocardiogram.

Figure 1. Initial EKG of the patient showing normal sinus rhythm

Figure 2. Initial chest X-ray showing the enlarged heart

Figure 3. Transthoracic echocardiogram showing cardiac tamponade

Figure 4. Respiratory inflow velocity of the mitral valve showing more than 20% drop with inspiration

Figure 5. CT scan of the chest after the procedure