Various heritable syndromes are associated with thoracic aortic aneurysms, such as autosomal dominant polycystic kidney disease, Ehlers-Danlos syndrome, familial thoracic aortic aneurysms and dissections, Loeys-Dietz
syndrome, Marfan syndrome, neurofibromatosis type 1, bicuspid aortic valve, and coarctation of the aorta.
Although SGS has typical findings, it has similar clinical features with Loeys-Dietz
syndrome (LDS) and Marfan syndrome (MFS).
It has been associated with multiple connective tissue disorders including Marfan syndrome, Ehler-Danlos syndrome, fibromuscular dysplasia, Loeys-Dietz
syndromes, and systemic lupus erythematosus.
syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings comprising pectus abnormality, scoliosis, arachnodactyly, hypermobile joints, congenital contractures of digits, and talipes equinovarus [1,2].
In addition, echocardiography demonstrated an ASD and PDA in our patient, an unusual finding in nMFS, and more characteristic of the related Loeys-Dietz
Syndromes associated with thoracic aortic aneurysms include Marfan syndrome (MFS), Loeys-Dietz
syndrome (LDS), Ehlers-Danlos syndrome (EDS), familial thoracic aortic aneurysms and dissections (TAAD), autosomal dominant polycystic kidney disease (ADPKD), bicuspid aortic valve (BAV), and neurofibromatosis type 1 (NF1).
(1) Genetic syndromes and collagen vascular diseases are another potential source of multiple aneurysms in children, and include entities such as Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz
syndrome, thoracic aortic aneurysm and dissection (TAAD), as well as Turner syndrome, neurofibromatosis, and autosomal dominant polycystic kidney disease (ADPKD).
Shprintzen-Goldberg Syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz
It incorporates other entities, such as familial high density lipoprotein deficiency syndromes, Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1, Loeys-Dietz
syndrome, immune recovery uveitis, ectrodactyl-ectodermal dysplasia, trichothiodystrophy, PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome, Susac's syndrome, autosomal dominant occult macular dystrophy, Tolosa-Hunt syndrome, KEttner tumor, caliber persistent artery, solitary circumscribed retina astrocytic proliferation, progressive transformation of germinal centers, and others.
The patient has a normal physical appearance and does not have any features that suggest Marfan's syndrome, Ehlers-Danlos syndrome, Loeys-Dietz
syndrome, ANCA-positive vasculitis, or Takayasu's arteritis.
It was found that mutations in the genes that lead to abnormal TGF-beta signaling are also keys to Marfan and Loeys-Dietz
syndromes, genetic conditions marked by blood vessel laxity and dangerous stretching of the aorta, the body's largest blood vessel.