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Table 2 cardiovascular manifestations

From: Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Alteration in arterial dimensions

Absolute dimension (Range in mm)

Z score (Range)

Median Z score

Dilatation of aortic root

14 to 30.4

+3.6 to +8.1

+4.6

Dilatation of ascending aorta

14 to 35.9

+4.6 to +12.1

+7.6

Dilatation of proximal transverse arch

6.5 to 29.1

−2.7 to +6.9

+3.4

Narrowing of isthmus, coarctation

1.8 to 7

−6.5 to −0.4

−2

Dilatation of main pulmonary artery

9.1 to 23.6

+0.5 to +7

+4.1

Other Major findings

Aorta & branches

Tortuosity and elongation of the arch branches – 22

Origin stenosis of left subclavian artery – 5

Origin stenosis/atresia of left common carotid artery –4

Origin stenosis of bilateral carotid arteries – 2

Elongation and tortuous folding of thoracic aorta at diaphragm – 18

Coeliac artery stenosis - 4

Abdominal aortic dilatation – 6

Abdominal aortic stenosis - 8

Stenosis of superior mesenteric artery – 2

Pulmonary arteries

Right pulmonary artery stenosis – 8

Left pulmonary artery stenosis – 2

Early branching of the right pulmonary artery – 7

Other findings

Ventricular hypertrophy – 15

Aortic regurgitation (mild) – 10

Mitral regurgitation (mild) - 7

Tracheal compression – 6

Esophagial compression - 7

Cerebral arterial elongation/tortuosity – 9 (of 11patients scanned for intracranial arteries)

Cerebral infarctions - 3

  1. Table  2 summarizes the findings on cardiovascular imaging (echocardiography, 64-slice CT scan /MRI).