Table 2.

Overview of genetic disorders mimicking LVV.

	Marfan syndrome (MFS) [20]	Loeys-Dietz syndrome (LDS) [21]	Ehlers-Danlos syndrome (EDS) [22]	Neurofibromatosis type 1 (NF-1) [23]
Definition	Autosomal dominant heritable connective tissue disorder caused by a fibrillin 1 (FBN1) gene mutation	Autosomal dominant heritable connective tissue disorder caused by a mutation in the transforming growth factor β receptor 1 or 2 (TGFBR1/TGFBR2) genes	Autosomal dominant connective tissue disorder caused by mutations in the genes encoding type I or III procollagen (COL1A1/COL3A1). Thirteen subtypes are recognized with subtype four known as vascular EDs (vEDS)	Autosomal dominant genetic disorder caused by a mutation in the neurofibromin 1 (NF1) tumor-suppressor gene
Main clinical features	(i) Aortic root dilation (ii) Aortic root dissection (iii) Ectopia lentis (iv) Spontaneous pneumothorax (v) Mitral valve prolapse (vi) Musculoskeletal anomalies (hindfoot deformity, pectus carinatum or excavatum, scoliosis, and arachnodactyly)	(i) Hypertelorism (ii) Bifid uvula or cleft palate (iii) Arterial tortuosity and aneurysms that can involve the aorta, head, neck, and abdominal arteries	(i) Dissection or spontaneous arterial rupture occurring in young patients (ii) Spontaneous sigmoid colon perforation (iii) Uterine rupture during pregnancy (iv) Carotid-cavernous sinus fistula formation (v) Other minor criteria include skin, muscle, bone, and joint anomalies	(i) Café-au-lait spots (ii) Axillary freckling (iii) Optic pathway gliomas (iv) CNS tumors (v) Lisch nodules (vi) Neurofibromas (vii) Learning disabilities (viii) Aneurysms (ix) Arterial stenoses (x) Aortic coarctation (xi) Arteriovenous malformations