Transposition of the great arteries (TGA) is a congenital defect of the heart's outflow tract characterised by discordant ventricle‐arterial connections that could be described clinically as ‘regular’ or RTGA and congenital corrected TGA or CCTGA. Most patients who present transposition of the great arteries display this defect as isolated and sporadic, but familiar forms, accompanied by other defects, have also been reported. Although genetic anomalies are commonly associated with congenital heart disease, RTGA and CCTGA features differ and their aetiology is still unknown in most patients. Key Concepts The two presentations of transposition of the great arteries ( TGA ) are the congenitally corrected transposition of the great arteries ( CCTGA ) and ‘regular’ transposition of great arteries or RTGA. Some Klinefelter syndrome patients display TGA. 22q11.2 deletion is poorly related to TGA. TGA is related to rare copy number variations ( CNV ) microdeletions and microduplication as del11q21, del1q21.1 and del18p. Kabuki and Carpenter syndromes are associated with TGA. Ciliar function related syndromes Ellis Van Creveld, Simpson–Golabi–Behmel and Nephronophthisis, are associated with TGA. NODAL , GDF1 and MED13L mutations are associated with TGA. TGA remains as congenital heart disease ( CHD ) with an unknown aetiology.