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Vascular disease

89 articles

Deep vein thrombosis

Deep vein thrombosis (DVT) is a blood clot in a deep vein of the leg, pelvis, or arm, part of venous thromboembolism; diagnosed by duplex ultrasound, treated with anticoagulants, and complicated by pulmonary embolism and post-thrombotic syndrome.

Developmental venous anomaly

A developmental venous anomaly, formerly called a venous angioma, is a common benign congenital variant of the brain's venous drainage, in which small veins converge on one collector vein.

Diffuse capillary malformation with overgrowth

Diffuse capillary malformation with overgrowth (DCMO), ORPHA:714737, is a rare congenital vascular anomaly syndrome with extensive pink reticulated capillary malformations, proportionate overgrowth, and foot anomalies, linked to somatic PIK3CA, GNAQ, or GNA11 variants.

Dural sinus malformation with arteriovenous shunt

Dural sinus malformation with arteriovenous shunt (DSM, ORPHA:97339), a rare congenital neurovascular malformation with massively dilated dural sinuses and AV shunts, presenting in neonates and infants with macrocrania, heart failure, or hemorrhage.

EPHB4-related capillary malformation-arteriovenous malformation

CM-AVM2 (OMIM 618196), also called EPHB4-related capillary malformation-arteriovenous malformation, is a rare autosomal dominant vascular disorder from EPHB4 loss-of-function variants, mimicking CM-AVM1 and HHT.

Familial cerebral cavernous malformation

Familial cerebral cavernous malformation (FCCM) is a hereditary neurovascular condition causing multiple vascular lesions in the brain and spinal cord, inherited in an autosomal dominant manner.

Familial intraosseous vascular malformation

Familial intraosseous vascular malformation (VMOS, VMPI, OMIM 606893) is an ultra-rare autosomal recessive ELMO2-related venous malformation of craniofacial bones, causing progressive jaw and skull enlargement, midline defects, and life-threatening bleeding.

Fibro-adipose vascular anomaly

Fibro-adipose vascular anomaly (FAVA), a rare ISSVA-provisionally unclassified vascular malformation first described in 2014, causes painful fibrofatty intramuscular lesions with contractures, PIK3CA mutations, and frequent misdiagnosis as venous malformation.

Fibromuscular dysplasia

Fibromuscular dysplasia (FMD) is an idiopathic, non-inflammatory, non-atherosclerotic arteriopathy of medium arteries, mainly renal and cervicocranial, affecting women, causing stenosis, aneurysm, dissection, and hypertension.

Flow limitation in the iliac artery

Flow limitation in the iliac artery (FLIA) is an exertional leg ischemia in endurance athletes, mainly cyclists, caused by endofibrosis, arterial kinking, or compression; diagnosed by provocative ABPI, Doppler, and NIRS testing.

Gangrene

Gangrene: death of body tissue from blocked blood supply (ischemia), bacterial infection, or both; types include dry, wet, and gas gangrene (Clostridium). Major risk factors are diabetes and peripheral arterial disease; treatment is debridement, antibiotics, and revascularization.

Hemihyperplasia-multiple lipomatosis syndrome

Hemihyperplasia-multiple lipomatosis syndrome (HHML) is a rare PIK3CA-related overgrowth disorder with asymmetric nonprogressive hemihyperplasia, multiple recurrent lipomas, vascular malformations, and possible embryonal malignancy risk.

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia, also called Osler–Weber–Rendu disease, is an autosomal dominant genetic disorder causing recurrent nosebleeds, anemia, and arteriovenous malformations in the lungs, brain, and liver.

Injury of abdominal aorta

Injury of abdominal aorta (ICD-11 NB90.0): traumatic damage to the abdominal aorta from blunt or penetrating trauma. Rare in blunt trauma (<1%), graded 1-4, mostly managed nonoperatively or endovascularly, mortality about 29%.

Injury of thoracic aorta

Injury of thoracic aorta (ICD-11 NB30.0), traumatic aortic wall damage, mainly blunt thoracic aortic injury from motor vehicle deceleration at the aortic isthmus; graded I–IV, diagnosed by CTA, treated with TEVAR or non-operative management.

Intermittent claudication

Intermittent claudication, also called claudicatio intermittens, is exercise-induced leg pain relieved by rest and the most common symptom of peripheral artery disease; treated with supervised exercise, cilostazol, and selective revascularization.

Intracranial vascular malformation

Intracranial vascular malformation (ICD-11 8B22.4): abnormal brain blood vessels including AVMs, dural fistulas, cavernous malformations, venous anomalies, and telangiectasias, differing in hemorrhage risk and treatment.

Intraosseous venous malformation

Intraosseous venous malformation (IOVM) is a non-neoplastic venous vascular malformation composed of dilated, ectatic venous channels within bone. Classified as a low-flow malformation, it frequently affects the skull and facial skeleton.

Isolated spontaneous cervical artery dissection

Isolated spontaneous cervical artery dissection (CeAD, ORPHA:689001) is a rare non-traumatic tear of a neck artery wall causing false lumen and intramural hematoma; a major stroke cause in adults under 50, treated with antithrombotic therapy.

Klippel–Trénaunay syndrome

Klippel–Trénaunay syndrome (KTS), also called angio-osteohypertrophy syndrome, is a rare congenital low-flow vascular malformation disorder with port-wine stains, venous malformations, and limb overgrowth, caused by somatic PIK3CA mutations within PROS.

Limb overgrowth

Limb overgrowth, ICD-11 LB97, is abnormal enlargement of a limb or digit seen in macrodactyly, hemihyperplasia, Klippel-Trenaunay syndrome, and PIK3CA-related overgrowth spectrum (PROS), caused by somatic mosaic PIK3CA pathway mutations.

Loeys–Dietz syndrome

Loeys–Dietz syndrome (LDS), or Loeys-Dietz aortic aneurysm syndrome, is an autosomal dominant connective tissue disorder caused by TGF-beta pathway gene variants (TGFBR1/2, SMAD2/3, TGFB2/3, IPO8), marked by aggressive aortic and arterial aneurysms, craniofacial and skeletal features, and allergic disease.

Lower limb atherosclerosis

Lower limb atherosclerosis is the thickening of artery walls from fatty buildup such as cholesterol in the leg arteries, evaluated and treated as peripheral artery disease.

Median arcuate ligament syndrome

Median arcuate ligament syndrome (MALS, Dunbar syndrome) is a rare disorder where the diaphragm's median arcuate ligament compresses the celiac artery and celiac plexus, causing postprandial abdominal pain, food fear, and weight loss; treated by surgical ligament release with 70-80% success.

Mucocutaneous venous malformations

Mucocutaneous venous malformations, formally VMCM, are a rare hereditary vascular malformation causing small venous lesions of the skin and mucosa, inherited in an autosomal dominant pattern.

Neonatal cerebral sinovenous thrombosis

Neonatal cerebral sinovenous thrombosis (CSVT) is venous thrombosis of cerebral veins or dural sinuses in newborns, causing seizures and encephalopathy, with 2.6 to 12 cases per 100,000 term neonates yearly and controversial anticoagulation treatment.

Nitrendipine

Nitrendipine is a dihydropyridine calcium channel blocker developed by Bayer for hypertension, best known as the first-line drug of the Syst-Eur trial, which showed reduced stroke and dementia rates in older patients.

Parkes Weber syndrome

Parkes Weber syndrome (PKWS), a rare congenital vascular malformation disorder with limb overgrowth, port-wine stain capillary malformations, and high-flow arteriovenous fistulas; caused by RASA1 or EPHB4 variants, distinct from Klippel-Trenaunay syndrome.

Pelvic arteriovenous malformation

Pelvic arteriovenous malformation (pelvic AVM), a rare congenital high-flow vascular anomaly with internal iliac artery feeders and a dominant outflow vein; treated mainly by coil embolization of the draining vein, with recurrence up to 15%.

Penetrating atherosclerotic ulcer

A penetrating atherosclerotic ulcer is an ulcerated aortic atherosclerotic plaque that breaks through the internal elastic lamina into the aortic wall's media, one of three acute aortic syndromes.