Page 8 - 40163_Cardiology Overview Brochure modi 181217 copy

Marfan Syndrome/TAAD Testing

Marfan syndrome is a heritable connective tissue disorder that can affect multiple organ systems including the skeletal, ocular,
and cardiovascular systems. Familial thoracic aortic aneurysm and dissection (TAAD) is a genetically heterogeneous disorder,
which primarily involves problems with the aorta, but can also present with other features as well, including: congenital heart
abnormalities, inguinal hernia, scoliosis, and ocular abnormalities.

Personal and Family History Red Flags

Aortic aneurysm/dissection Individuals with features suggestive of a connective
Suspected heart attack, coronary artery disease, or tissue disorder
stroke at a young age Unexplained cardiac arrest(s) or sudden death

Marfan Syndrome/Thoracic Aortic Aneurysm and Dissection Panel (23 genes)

ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MAT2A, MED12, MFAP5, MYH11, MYLK,

NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

FBN1 Sequencing and Deletion/Duplication Analysis

Rest of Marfan/TAAD Panel if FBN1 is negative

Pathogenic Variants Distribution in Patients with Pathogenic Variants Distribution in Patients
a Clinical Diagnosis of Marfan Syndrome with Nonsyndromic TAAD

2% 16%
3%
88% 2%
1% 52%
28%
2% 2%

FBN1 TGFBR1 COL5A1 COL3A1 FBN1 COL3A1 FBN2 ACTA2
COL5A2 TGFB2 CBS

This data is derived from an internal analysis of patients referred for Marfan/TAAD full sequencing analysis of the following
genes: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, TGFB2, TGFBR1.

8