Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome

Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder with multisystem involvement of wide spectrum, found to be associated with transforming growth factor-beta pathway. LDS is characterized by craniofacial, skeletal, cutaneous, vascular abnormalities along with aortic aneurysm and aortic dissection contributing to mortality and morbidity at a young age. Therefore, timely diagnosis and intervention in patients with LDS is vital. Several gene mutations have been described as contributing factors of LDS, causing widespread and aggressive vascular disease. Based on these gene mutations, 5 types of LDS have been described so far. Besides aortic aneurysm and dissection, some of the other cardiac manifestations of LDS involve cardiomyopathy, valvular abnormality, atrial fibrillation, patent ductus arteriosus, atrial septal defects, etc. Routine imaging of patients' vasculatures and aggressive medical and surgical management are key factors in managing patients with LDS.