Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.
Delayed Diagnosis , Echocardiography , Heart Septal Defects, Atrial , Loeys-Dietz Syndrome , Pulmonary Artery , Humans , Male , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnosis , Heart Septal Defects, Atrial/complications , Heart Septal Defects, Atrial/diagnosis , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/abnormalities , Young Adult , Echocardiography/methods , Dilatation, Pathologic , Diagnosis, Differential
