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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).