Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Table 5 Clinical and genetic characteristics of nonsyndromic mutation carriers

Family	Position on pedigree-status	Sex	Age	CVS involvement of the aorta	Aortic Root	Z-score	Extension	Age at surgery	Type of surgery^a	Cardiovascular system-other	Gene	Protein
TAAD026	II:4-proband	F	52	AAD	Surgery		R, As, Ar, D, Ab	46	SC		TGFBR1	p.Y282H
TAAD026	I:1-father	M	77	TAA	47	3.8	R, As, Ar	NA	NA	CAD	TGFBR1	p.Y282H
TAAD026	III:6-son	M	15	N	30	0.5		NA	NA		TGFBR1	p.Y282H
TAAD045	II:1-proband	M	47	AAD	Surgery		R, As, Ar, D, Ab	35	SC		SMAD3	p.I290F
TAAD045	III:2-son	M	21	N	37	1.6		NA	NA		SMAD3	p.I290F
TAAD111	III:5-proband	M	41	AAD	Surgery		As, Ar, D, Ab	29	SC		ACTA2	p.D27G
TAAD111	IV:1-son	M	19	N	31	−0.1		NA	NA		ACTA2	p.D27G
TAAD076	III:1-proband	F	29	AAD	36	2.7	R, Ad, Ab	20	SGI		ACTA2	p.N117S
TAAD076	II:2-mother	F	55	N	30	0.9		NA	NA		ACTA2	p.N117S
TAAD076	II:3-mat uncle	M	57	N	36	NE		NA	NA	Stroke at 39 y, MI at 42y	ACTA2	p.N117S
TAAD024	II:3-proband	F	49	TAA	Surgery		As, Ar	43	SC	BAV	MYH11	p.R1758Q
TAAD024	III:1-daughter	F	24	N	30	0.6		NA	NA		MYH11	p.R1758Q
TAAD103	II:1-proband	M	62	TAA	Surgery		R, As, Ar onset	59	Y + AVR	BAV	MYH11	p.E1840D
TAAD097	II:1-proband	M	55	AAD	Surgery		As, Ar, D, Ab	40	SC + A		COL3A1	p.I1290T
TAAD097	II:5-sister	F	50	TAA	44	3.4	R, As				COL3A1	p.I1290T
TAAD097	III:1-son	M	33	Borderline TAA	42	2.0	R				COL3A1	p.I1290T
TAAD097	III:4-daughter	F	28	N	32	1.1					COL3A1	p.I1290T

AAD acute aortic dissection, Ab abdominal aorta, Ar aortic arch, As ascending aorta, AVR aortic valve replacement, BAV bicuspid aortic valve, CAD coronary artery disease, CVS cardiovascular system, D thoracic descending aorta, F female, HT arterial hypertension, M male, MI myocardial infarction, N normal echocardiographic study, NA not applicable, NE not examined, R aortic root, SC supracoronary ascending aortic replacement, SC + A supracoronary and arch prosthesis, SGI stent graft implantation, TAA thoracic aortic aneurysm, Y Yacoub procedure
^aRelates to primary surgical intervention

ISSN: 1479-5876