IllnessVasculopathies, hereditary; differential diagnosis

NGS +

[Sanger]

Vasculopathy is a general term used to describe any pathology that affects the vascular tree, hence a broad group of diseases. Vasculopathies often result in structural vessel wall changes such as stenosis and/or dilatation, which can lead to impaired blood flow and consequent ischemia in major organs. The clinical sequelae may include myocardial infarction, ischemic stroke, arterial hypertension, skin lesions as well as renal and intestinal failure, all of which are associated with significant morbidity and mortality. In terms of etiopathogenesis, vasculopathies fall into two broad categories: inflammatory and non-inflammatory, which can affect both children and adults. All classical modes of inheritance can occur. Due to the diverse etiopathogeneses of these monogenic diseases, there is a lack of summary studies regarding the diagnostic yield achievable by molecular genetic methods.

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• Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Adams-Oliver syndrome 5 (NOTCH1)
• Allelic: Inflammatory bowel disease 1, Crohn disease (NOD2)
• Allelic: Yao syndrome (NOD2)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Aortic aneurysm, familial thoracic 6 (ACTA2)
• Arterial tortuosity syndrome (SLC2A10)
• Autoinflammatory syndrome, familial, Behcet-like (TNFAIP3)
• Blau syndrome (NOD2)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• CARASIL syndrome (HTRA1)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Cutis laxa, AR, type IB (EFEMP2)
• Fabry disease (GLA)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Moyamoya disease 2, susceptibility to (RNF213)
• Moyamoya disease 5 (ACTA2)
• Moyamoya disease 6 with achalasia (GUCY1A3)
• Polycystic kidney disease 1 (PKD1)
• Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PSTPIP1)
• Retinal arteries, tortuosity of (COL4A1)
• Sneddon syndrome (ADA2)
• Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
• Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
• Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
• Thoracic aortic aneurysm or dissection (FLNA)
• Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)