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Aneurysm

MedGen UID:
428304
Concept ID:
CN002379
Finding
Synonyms: Aneurysmal disease; ANEURYSMS
 
HPO: HP:0002617

Definition

Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. [from HPO]

Conditions with this feature

Hyperimmunoglobulin E syndrome
MedGen UID:
43995
Concept ID:
C0022398
Disease or Syndrome
Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immune deficiency characterized by the classic triad of recurrent skin boils, cyst-forming pneumonias, and extreme elevations of serum IgE. It is now recognized that other common manifestations include eczema, mucocutaneous candidiasis, and several connective tissue and skeletal abnormalities. A rash in the newborn period subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatocoeles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. A characteristic facial appearance typically emerges in adolescence. Skeletal abnormalities include osteopenia, minimal trauma fractures, and scoliosis. Vascular abnormalities include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease; esophageal dysmotility; and rarely colonic perforations, some of which are associated with diverticuli. Fungal infection of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, but life span is often shortened. Most deaths are associated with Gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.
Menkes kinky-hair syndrome
MedGen UID:
44030
Concept ID:
C0022716
Disease or Syndrome
Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders of copper transport caused by mutations in the copper-transporting ATPase gene (ATP7A). Infants with classic Menkes disease appear healthy until age two to three months, when loss of developmental milestones, hypotonia, seizures, and failure to thrive occur. The diagnosis is usually suspected when infants exhibit typical neurologic changes and concomitant characteristic changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented). Temperature instability and hypoglycemia may be present in the neonatal period. Death usually occurs by age three years. Occipital horn syndrome is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiographs. Individuals with OHS also have lax skin and joints, bladder diverticula, inguinal hernias, and vascular tortuosity. Intellect is normal or slightly reduced. ATP7A-related distal motor neuropathy, an adult-onset disorder resembling Charcot-Marie-Tooth disease, shares none of the clinical or biochemical abnormalities characteristic of Menkes disease or OHS.
Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency van Eyck et al., 2014).
Takayasu arteritis
MedGen UID:
21458
Concept ID:
C0039263
Disease or Syndrome
A large vessel vasculitis affecting the aorta and its branches. It usually affects young females. It causes vascular obstruction, resulting in asymmetric pulses.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.
Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders of copper transport caused by mutations in the copper-transporting ATPase gene (ATP7A). Infants with classic Menkes disease appear healthy until age two to three months, when loss of developmental milestones, hypotonia, seizures, and failure to thrive occur. The diagnosis is usually suspected when infants exhibit typical neurologic changes and concomitant characteristic changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented). Temperature instability and hypoglycemia may be present in the neonatal period. Death usually occurs by age three years. Occipital horn syndrome is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiographs. Individuals with OHS also have lax skin and joints, bladder diverticula, inguinal hernias, and vascular tortuosity. Intellect is normal or slightly reduced. ATP7A-related distal motor neuropathy, an adult-onset disorder resembling Charcot-Marie-Tooth disease, shares none of the clinical or biochemical abnormalities characteristic of Menkes disease or OHS.
Aneurysm of interventricular septum
MedGen UID:
234648
Concept ID:
C1387721
Anatomical Abnormality
Oral-facial-digital syndrome
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is associated with dysfunction of primary cilia and is characterized by the following abnormalities: Oral (lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia) . Digital (brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands). Brain (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) . Kidney (polycystic kidney disease). As many as 50% of individuals with OFD1 have some degree of intellectual disability, which is usually mild. Almost all affected individuals are female. However, males with OFD1 have been described, mostly as malformed fetuses delivered by women with OFD1.
Arrhythmogenic right ventricular cardiomyopathy, type 9
MedGen UID:
373205
Concept ID:
C1836906
Disease or Syndrome
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle; with time, it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
Vascular hyalinosis
MedGen UID:
376398
Concept ID:
C1848590
Disease or Syndrome
Arterial tortuosity syndrome
MedGen UID:
347942
Concept ID:
C1859726
Disease or Syndrome
Arterial tortuosity syndrome (ATS) is characterized by: Severe and widespread arterial tortuosity of the aorta and middle-sized arteries (with an increased risk of aneurysms and dissections) and focal and widespread stenosis which can involve the aorta and/or pulmonary arteries; ??The risk for ischemic vascular events involving cerebrovascular circulation and the abdominal arteries is increased. In addition, large veins may be dilated and valvular regurgitation and mitral valve prolapse can occur. Craniofacial involvement with characteristic facies and high palate with dental crowding; Soft/doughy skin and other evidence of a generalized connective tissue disorder including skeletal findings (scoliosis, pectus excavatum/carinatum, joint laxity, knee/elbow contractures, arachnodactyly, camptodactyly); inguinal/abdominal wall hernia; sliding hiatal or diaphragmatic hernia; hypotonia; and ocular involvement (myopia, keratoconus).

Recent clinical studies

Etiology

Welleweerd JC, de Borst GJ; Carotid Aneurysm Registry Project Group
Eur J Vasc Endovasc Surg 2015 Mar;49(3):235-6. Epub 2014 Dec 9 doi: 10.1016/j.ejvs.2014.11.007. [Epub ahead of print] PMID: 25500055
Vo T, Tumbaga G, Aka P, Behseresht J, Hsu J, Tayarrah M
J Vasc Surg 2015 Feb;61(2):457-62. Epub 2014 Oct 24 doi: 10.1016/j.jvs.2014.09.008. [Epub ahead of print] PMID: 25441668
Joshi D, James RL, Jones L
Cochrane Database Syst Rev 2014 Aug 31;8:CD010149. doi: 10.1002/14651858.CD010149.pub2. PMID: 25173678
Sarajlić A, Gligorijević V, Radak D, Pržulj N
Integr Biol (Camb) 2014 Nov;6(11):1049-57. doi: 10.1039/c4ib00125g. PMID: 25098752
Piazza M, Menegolo M, Ferrari A, Bonvini S, Ricotta JJ, Frigatti P, Grego F, Antonello M
Eur J Vasc Endovasc Surg 2014 Aug;48(2):161-8. Epub 2014 Jun 7 doi: 10.1016/j.ejvs.2014.04.011. [Epub ahead of print] PMID: 24913684

Diagnosis

Vo T, Tumbaga G, Aka P, Behseresht J, Hsu J, Tayarrah M
J Vasc Surg 2015 Feb;61(2):457-62. Epub 2014 Oct 24 doi: 10.1016/j.jvs.2014.09.008. [Epub ahead of print] PMID: 25441668
Gouaillier-Vulcain F, Maurel B, Marchand E, Martinez R, Picquet J, Enon B
Ann Vasc Surg 2014 Nov;28(8):1936.e1-4. Epub 2014 Aug 6 doi: 10.1016/j.avsg.2014.05.022. [Epub ahead of print] PMID: 25106103
Komatsu S, Iwasaki T, Nishioka N, Toyokawa A, Teramura K
Ann Vasc Surg 2014 Nov;28(8):1934.e13-7. Epub 2014 Jul 11 doi: 10.1016/j.avsg.2014.06.078. [Epub ahead of print] PMID: 25017773
Palcau L, Gouicem D, Joguet E, Cameliere L, Berger L
Vasc Endovascular Surg 2014 Jul-Aug;48(5-6):430-3. Epub 2014 Jun 11 doi: 10.1177/1538574414539049. [Epub ahead of print] PMID: 24923285
Piazza M, Menegolo M, Ferrari A, Bonvini S, Ricotta JJ, Frigatti P, Grego F, Antonello M
Eur J Vasc Endovasc Surg 2014 Aug;48(2):161-8. Epub 2014 Jun 7 doi: 10.1016/j.ejvs.2014.04.011. [Epub ahead of print] PMID: 24913684

Therapy

Welleweerd JC, de Borst GJ; Carotid Aneurysm Registry Project Group
Eur J Vasc Endovasc Surg 2015 Mar;49(3):235-6. Epub 2014 Dec 9 doi: 10.1016/j.ejvs.2014.11.007. [Epub ahead of print] PMID: 25500055
Vo T, Tumbaga G, Aka P, Behseresht J, Hsu J, Tayarrah M
J Vasc Surg 2015 Feb;61(2):457-62. Epub 2014 Oct 24 doi: 10.1016/j.jvs.2014.09.008. [Epub ahead of print] PMID: 25441668
Piazza M, Menegolo M, Ferrari A, Bonvini S, Ricotta JJ, Frigatti P, Grego F, Antonello M
Eur J Vasc Endovasc Surg 2014 Aug;48(2):161-8. Epub 2014 Jun 7 doi: 10.1016/j.ejvs.2014.04.011. [Epub ahead of print] PMID: 24913684
Ojeda J, Rodríguez Y, Ríos G
BMJ Case Rep 2014 Jun 9;2014 doi: 10.1136/bcr-2013-203523. PMID: 24913078
Ikeda A, Kawamata T, Konishi T, Matsuzaki K, Jikuya T
Surg Today 2014 Oct;44(10):1966-70. Epub 2013 Jul 28 doi: 10.1007/s00595-013-0676-4. [Epub ahead of print] PMID: 23893160

Prognosis

Gouaillier-Vulcain F, Maurel B, Marchand E, Martinez R, Picquet J, Enon B
Ann Vasc Surg 2014 Nov;28(8):1936.e1-4. Epub 2014 Aug 6 doi: 10.1016/j.avsg.2014.05.022. [Epub ahead of print] PMID: 25106103
Palcau L, Gouicem D, Joguet E, Cameliere L, Berger L
Vasc Endovascular Surg 2014 Jul-Aug;48(5-6):430-3. Epub 2014 Jun 11 doi: 10.1177/1538574414539049. [Epub ahead of print] PMID: 24923285
Piazza M, Menegolo M, Ferrari A, Bonvini S, Ricotta JJ, Frigatti P, Grego F, Antonello M
Eur J Vasc Endovasc Surg 2014 Aug;48(2):161-8. Epub 2014 Jun 7 doi: 10.1016/j.ejvs.2014.04.011. [Epub ahead of print] PMID: 24913684
Steireif SC, Kocher GJ, Gebhart FT, Schmid RA
Eur J Cardiothorac Surg 2014 Apr;45(4):755-6. Epub 2013 Aug 19 doi: 10.1093/ejcts/ezt411. [Epub ahead of print] PMID: 23959741
Ikeda A, Kawamata T, Konishi T, Matsuzaki K, Jikuya T
Surg Today 2014 Oct;44(10):1966-70. Epub 2013 Jul 28 doi: 10.1007/s00595-013-0676-4. [Epub ahead of print] PMID: 23893160

Clinical prediction guides

Eslami MH, Rybin D, Doros G, Farber A
J Vasc Surg 2015 Mar;61(3):663-9. Epub 2014 Nov 6 doi: 10.1016/j.jvs.2014.09.069. [Epub ahead of print] PMID: 25454212
Palcau L, Gouicem D, Joguet E, Cameliere L, Berger L
Vasc Endovascular Surg 2014 Jul-Aug;48(5-6):430-3. Epub 2014 Jun 11 doi: 10.1177/1538574414539049. [Epub ahead of print] PMID: 24923285
Piazza M, Menegolo M, Ferrari A, Bonvini S, Ricotta JJ, Frigatti P, Grego F, Antonello M
Eur J Vasc Endovasc Surg 2014 Aug;48(2):161-8. Epub 2014 Jun 7 doi: 10.1016/j.ejvs.2014.04.011. [Epub ahead of print] PMID: 24913684
Indo M, Oya S, Tanaka M, Matsui T
J Neurosurg 2014 Jan;120(1):93-8. Epub 2013 Nov 1 doi: 10.3171/2013.9.JNS131030. [Epub ahead of print] PMID: 24180574
Ueda Y, Tokuno J, Shoji T, Huang CL
Interact Cardiovasc Thorac Surg 2014 Jan;18(1):135-6. Epub 2013 Oct 2 doi: 10.1093/icvts/ivt436. [Epub ahead of print] PMID: 24092467Free PMC Article

Recent systematic reviews

Boogaarts HD, van Lieshout JH, van Amerongen MJ, de Vries J, Verbeek AL, Grotenhuis JA, Westert GP, Bartels RH
J Neurosurg 2015 Apr;122(4):921-8. Epub 2015 Feb 6 doi: 10.3171/2014.12.JNS14931. [Epub ahead of print] PMID: 25658785
Welleweerd JC, de Borst GJ; Carotid Aneurysm Registry Project Group
Eur J Vasc Endovasc Surg 2015 Mar;49(3):235-6. Epub 2014 Dec 9 doi: 10.1016/j.ejvs.2014.11.007. [Epub ahead of print] PMID: 25500055
Joshi D, James RL, Jones L
Cochrane Database Syst Rev 2014 Aug 31;8:CD010149. doi: 10.1002/14651858.CD010149.pub2. PMID: 25173678
Huang LG, Liu DB, Wang HQ
Interact Cardiovasc Thorac Surg 2014 Nov;19(5):782-7. Epub 2014 Jul 30 doi: 10.1093/icvts/ivu239. [Epub ahead of print] PMID: 25080510
Aryal MR, Hakim FA, Ghimire S, Ghimire S, Giri S, Pandit A, Bhandari Y, Bhandari N, Pathak R, Karmacharya P, Pradhan R
Echocardiography 2014 Nov;31(10):1312-8. Epub 2014 Jun 28 doi: 10.1111/echo.12667. [Epub ahead of print] PMID: 24976376

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