1 |
F |
AAo |
TS Hypertension |
Mildly dilated AAo and BP control.
Patient was switched from HCTZ to Metoprolol. |
Chromosome analysis:
Female karyotype with Monosomy X |
- |
2 |
M |
Aortic Root |
BAV AS AI |
FH of sudden death due to aortic
dissection in father (47 yo). Pt did not meet Ghent criteria for MFS.
Possibly has one of the familial thoracic aortic aneurysm and dissection
syndromes |
TAAD Panel: Hemizygous for FNLA gene splice variant of
unknown clinical significance (c.116-3 C>A, Variant IVS1-3
C>A) |
Father (Aortic dissection) |
3 |
M |
Aortic Root |
Suspicion for CTD |
Aortic dimensions above the
95th percentile for BSA; Father died of thoracic aortic dissection (38
yo) |
SMAD 3 analysis: c.394A>G transition in exon 4 of
SMAD3 gene of unknown clinical significance Negative TGFBR2, FBN1, MYH11 |
Father (Aortic dissection) |
4 |
M |
Aortic Root |
AI |
FH and concern for genetic abnormality |
CGH:
heterozygous deletion of one FBN1 allele; Copy Number LOSS in 15q21.1 -
q21.3 |
Father (AoD - SoV 47 mm); Father’s cousin died during weight
lifting from ”rupture of some sort” |
5 |
F |
Aortic Root |
MFS |
Aortic root dimension at the 95th percentile
for BSA ; started due to aortic root size and mitral regurgitation |
1
base pair deletion in the fragment containing axon 44 and flanking
sequences of FBN1 gene |
- |
6 |
M |
Aortic root |
MFS |
MFS |
FBN1 gene c.2054G>A
transition in exon 16 |
- |
7 |
M |
Aortic Root |
MFS Atrial Tachycardia |
SoV greater than the 95th
percentile for BSA |
FBN1 exon 11 mutation |
Father (MFS) |
8 |
M |
Aortic Root |
MFS Hypertension |
MFS |
FBN1 Exon 41
c.5071_5073delAGA (heterozygous) |
Mother, Sister (MFS) |
9 |
M |
Aortic root |
Suspicion of CTD |
Concern for possible CTD.
Aortic root size in the upper normal limits, also dilation of the
proximal descending aorta |
SMAD 3 Exon 4 sequencing analysis: SMAD3
variant of unknown significance at c.394A>G (mother and
brother with same variant) |
Father (Aortic dissection) Brother (AoD)
Mother, Brother (Same genetic mutation variant as pt) |
10 |
M |
Aortic root AAo |
BAV AI |
FH concerning for a potential
genetic etiology for cardiac findings, at risk for progression of AoD
given FH |
CGH: 7q31.3 copy number loss; Adams-Oliver syndrome and
Aarskog-Scott syndrome, which were negative by next-generation
sequencing of FDG1 and NOTCH1; TAAD panel pending; WAS, DOCK8, GATA1,
STAT3 and WIPF1: negative; ASXL1p.P1137L variant (unknown significance);
KMT2Cp.R1095g variant (unknown significance) |
Maternal GF (BAV, Aortic
root aneurysm requiring surgery) Maternal great GF (brain aneurysm)
Paternal uncle deceased at 1 day of age (CHD) |
11 |
F |
Aortic Root |
MFS History of VT and Palpitations treated with
Sotalol (Discontinued when started on Losartan) |
MFS, SoV increased by
1 mm in 6 months |
Heterozygous likely pathogenic missense variant
detected in the FBN1 gene; c.6569G>T (p.Cys2190Phe),
heterozygous, exon 54 |
- |
12
|
M
|
Aortic Root
|
Suspicion for CTD
|
Concern for MFS (Aortic root increased from 30 to 37 mm in 2
years)
|
TAAD panel: Heterozygous FBN2 c.1644 T>G, pAsp548Glu
(D548E), variant of unknown significance. Negative FBN1, TGFBR1 and
TGFBR2.
Plasma homocysteine: normal
|
Brother (Pectus abnormality)
Father (high arch palate)
|
13 |
M |
Aortic Root |
Hypertension |
aortic root dilation, BP control |
CGH: Copy number gain within 16p13.11; 16p13.1 duplication, including
MYH11 gene |
- |
14 |
M |
Aortic Root |
MFS |
MFS |
FBN1 & TGFBR2 analysis: FBN1 gene
mutation exon 25 c.3146G>A |
- |
15 |
M |
Aortic Root |
- |
FH, echocardiogram with aortic root
dimensions above the 95th percentile for BSA, decrease rate of growth of
aortic sinuses |
TAAD Panel: Variants of unknown significance COL3A1
c.203A>G, pAsp68Gly (D68G), Heterozygous COL5A2
c.3316C>T, pArg1106Trp (R1106W), Heterozygous |
Father
(severe aortic regurgitation, AAo aneurysm with dissection s/p
mechanical aortic valve, hypertension) Brother (BAV) |
16 |
F |
Aortic Root AAo |
BAV AS AI |
Aortic dimensions above the 95th
percentile for BSA |
FBN1 & TGFBR2 analysis: FBN1 negative; TGFBR2 exon
4 c.610G>A transition (unknown significance, most likely
polymorphism) |
Unknown, Adopted |
17
|
F
|
Aortic Root AAo
|
BAV TS
|
MRA confirmed AoD, patient started on medication
|
Chromosome analysis: 45,X (Monosomy X)
|
Maternal GF (Aortic Aneurysm)
Maternal uncle (MVP) Maternal cousin (BAV/AI)
|
18 |
F |
Aortic Root |
MFS |
MFS, considered to have mild aortic root
enlargement |
FBN1 & TGFBR2 analysis: FBN1 exon 23
c.2849G>C; TGFBR2 negative |
Maternal aunt (MVP) Brother
(SVT) |
19 |
M |
Aortic Root |
LDS Type 4 |
LDS |
Level 2 sequencing: TGFB2
c.1210G>A (p.Ala404Thr) variant, heterozygous |
- |
20 |
F |
Aortic Root |
LDS Type 2 |
LDS |
Next Generation Sequencing:
TGFBR2 1336G>A (p.Asp446Asn) variant, heterozygous
(Mutation in mosaic state in father) |
Father (Genetic
mutation) |