Heterozygous mutations in TGFB3 cause Loeys-Dietz syndrome type 5 (LDS5), a rare autosomal dominant connective tissue disorder most prominently characterized by aneurysms and dissections involving the thoracic and/or abdominal aorta. Epidemiological studies for LDS are currently lacking, hampering reliable estimation of the disease prevalence and incidence.
TGFB3