. Author manuscript; available in PMC: 2025 Mar 8.

Published in final edited form as: J Thorac Cardiovasc Surg. 2023 Jul 25;166(5):e332–e376. doi: 10.1016/j.jtcvs.2023.07.023

TABLE 1.

Demographic and genotype data for patients with Loeys-Dietz syndrome included in valve-sparing aortic root and ascending aorta replacement + arch treatment strategy

Age (y)	Sex	Genotype

35	F	*TGFBR1 c.980 C > T, p.R487Q*
19	M	TGFBR1 exon4 deletion
57	M	TGFBR1 c.1216 T > A, p.L406I, bicuspid aortic valve
26	M	*TGFBR2 c.1151 A > G, p.N384S*
36	M	*SMAD3 c.1180 T > C, p.C394 R*
51	M	*SMAD3 c.277 C > T, pR93* ^*
31	M	SMAD3 c.308_309delinsCG, p.L103P
48	M	*TGFB2 exon 5 c.979 C > T, p.R299 W*

Patients in bold underwent scRNAseq.

Denotes variant resulting in premature stop codon.