A 42-year-old man presented with shortness of breath (SOB) and skeletal pain. He had normal sinus rhythm in his electrocardiogram (75bpm) and oxygen in room air. The patient, a product of a first-cousin marriage, experienced hearing loss at 7 years old and exhibited flexion contracture of both upper and lower extremity digits soon after (Figure 1). At 33 years old, he underwent a brain and sinus CT scan for a headache, which revealed acute sinusitis. Echocardiography to evaluate SOB demonstrated a fixed homogeneous mass density measuring 4.8*1.6cm attached to the RA wall (Figure 2). Further investigations, including genetic testing, were performed due to a family history of hearing loss and the presence of a spinal cord mass in the patient’s younger brother.

Figure 1. Hands and foots contracture in our patient