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.
El paciente no cumple con el fenotipo clasico de los sindromes Shprintzen Goldberg (SSG), Loeys-Dietz
(SLD), Ehrles-Danlos IV, ni de otras entidades menos comunes que hacen parte de los diagnosticos diferenciales para tener en cuenta para SM (tabla 3).
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.