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Aortic aneurysm

MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome; Finding
Synonym: Aortic aneurysm (disease)
SNOMED CT: Aortic aneurysm (67362008); Aneurysm of aorta (67362008); AA - Aortic aneurysm (67362008)
 
HPO: HP:0004942
Monarch Initiative: MONDO:0005160

Definition

Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. [from HPO]

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Osteogenesis imperfecta type I
MedGen UID:
9799
Concept ID:
C0023931
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Larsen syndrome
MedGen UID:
104500
Concept ID:
C0175778
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Shprintzen-Goldberg syndrome
MedGen UID:
231160
Concept ID:
C1321551
Disease or Syndrome
Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
MedGen UID:
331400
Concept ID:
C1832942
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
PHACE syndrome
MedGen UID:
376231
Concept ID:
C1847874
Disease or Syndrome
PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).
Lateral meningocele syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.
Temtamy syndrome
MedGen UID:
347474
Concept ID:
C1857512
Disease or Syndrome
Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).
MASS syndrome
MedGen UID:
346932
Concept ID:
C1858556
Disease or Syndrome
A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
Aortic aneurysm, familial thoracic 6
MedGen UID:
435866
Concept ID:
C2673186
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Cardiomyopathy, familial restrictive, 3
MedGen UID:
382807
Concept ID:
C2676271
Disease or Syndrome
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.
Fontaine progeroid syndrome
MedGen UID:
394125
Concept ID:
C2676780
Disease or Syndrome
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.
RIN2 syndrome
MedGen UID:
416526
Concept ID:
C2751321
Disease or Syndrome
A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.
Aortic aneurysm, familial thoracic 7
MedGen UID:
462427
Concept ID:
C3151077
Disease or Syndrome
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aortic valve disease 2
MedGen UID:
762200
Concept ID:
C3542024
Disease or Syndrome
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Congenital heart defects, multiple types, 2
MedGen UID:
767193
Concept ID:
C3554279
Disease or Syndrome
Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018). For a discussion of genetic heterogeneity of CHTD, see 306955.
Aortic aneurysm, familial thoracic 11, susceptibility to
MedGen UID:
1377970
Concept ID:
C4479235
Finding
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
MedGen UID:
1824001
Concept ID:
C5774228
Disease or Syndrome
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022).

Professional guidelines

PubMed

Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Recent clinical studies

Etiology

Baman JR, Eskandari MK
JAMA 2022 Dec 13;328(22):2280. doi: 10.1001/jama.2022.18638. PMID: 36511924
Haque K, Bhargava P
Am Fam Physician 2022 Aug;106(2):165-172. PMID: 35977132
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Clancy K, Wong J, Spicher A
Perm J 2019;23 Epub 2019 Oct 25 doi: 10.7812/TPP/18.218. PMID: 31926569Free PMC Article
Sakalihasan N, Limet R, Defawe OD
Lancet 2005 Apr 30-May 6;365(9470):1577-89. doi: 10.1016/S0140-6736(05)66459-8. PMID: 15866312

Diagnosis

Baman JR, Eskandari MK
JAMA 2022 Dec 13;328(22):2280. doi: 10.1001/jama.2022.18638. PMID: 36511924
Haque K, Bhargava P
Am Fam Physician 2022 Aug;106(2):165-172. PMID: 35977132
Senser EM, Misra S, Henkin S
Cardiol Clin 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. PMID: 34686263
Kallianos KG, Burris NS
Radiol Clin North Am 2020 Jul;58(4):721-731. Epub 2020 May 12 doi: 10.1016/j.rcl.2020.02.009. PMID: 32471540Free PMC Article
Clancy K, Wong J, Spicher A
Perm J 2019;23 Epub 2019 Oct 25 doi: 10.7812/TPP/18.218. PMID: 31926569Free PMC Article

Therapy

Boitano L, Eagleton MJ
Future Cardiol 2021 Aug;17(5):805-810. Epub 2020 Dec 4 doi: 10.2217/fca-2020-0158. PMID: 33274656
Dalman RL, Wanhainen A, Mani K, Modarai B
J Intern Med 2020 Jul;288(1):23-37. Epub 2020 Mar 18 doi: 10.1111/joim.13042. PMID: 32187752
Antoniou GA, Antoniou SA, Torella F
Eur J Vasc Endovasc Surg 2020 Mar;59(3):385-397. Epub 2019 Dec 30 doi: 10.1016/j.ejvs.2019.11.030. PMID: 31899100
Takagi H, Umemoto T; Alice (All-Literature Investigation of Cardiovascular Evidence) group
Int Angiol 2017 Feb;36(1):21-30. Epub 2015 Nov 23 doi: 10.23736/S0392-9590.16.03618-X. PMID: 26603433
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

Mordi IR, Forsythe RO, Gellatly C, Iskandar Z, McBride OM, Saratzis A, Chalmers R, Chin C, Bown MJ, Newby DE, Lang CC, Huang JTJ, Choy AM
J Am Heart Assoc 2019 Oct 15;8(20):e013743. Epub 2019 Oct 9 doi: 10.1161/JAHA.119.013743. PMID: 31595818Free PMC Article
Patel R, Sweeting MJ, Powell JT, Greenhalgh RM; EVAR trial investigators
Lancet 2016 Nov 12;388(10058):2366-2374. Epub 2016 Oct 12 doi: 10.1016/S0140-6736(16)31135-7. PMID: 27743617
Elefteriades JA, Farkas EA
J Am Coll Cardiol 2010 Mar 2;55(9):841-57. doi: 10.1016/j.jacc.2009.08.084. PMID: 20185035
Prisant LM, Nalamolu VR
J Clin Hypertens (Greenwich) 2005 Jun;7(6):367-71. doi: 10.1111/j.1524-6175.2005.04116.x. PMID: 16088302Free PMC Article
Prisant LM, Mondy JS 3rd
J Clin Hypertens (Greenwich) 2004 Feb;6(2):85-9. doi: 10.1111/j.1524-6175.2004.02838.x. PMID: 14872146Free PMC Article

Clinical prediction guides

Pirruccello JP, Lin H, Khurshid S, Nekoui M, Weng LC, Vasan RS, Isselbacher EM, Benjamin EJ, Lubitz SA, Lindsay ME, Ellinor PT
JAMA 2022 Nov 15;328(19):1935-1944. doi: 10.1001/jama.2022.19701. PMID: 36378208Free PMC Article
Li X, Cokkinos D, Gadani S, Rafailidis V, Aschwanden M, Levitin A, Szaflarski D, Kirksey L, Staub D, Partovi S
Int J Cardiovasc Imaging 2022 Aug;38(8):1711-1721. Epub 2022 Feb 23 doi: 10.1007/s10554-022-02558-3. PMID: 35195805
Eliathamby D, Gutierrez M, Liu A, Ouzounian M, Forbes TL, Tan KT, Chung J
J Am Heart Assoc 2021 Jul 6;10(13):e020140. Epub 2021 Jun 14 doi: 10.1161/JAHA.120.020140. PMID: 34121418Free PMC Article
Caspary L
Vasa 2016 Jan;45(1):17-29. doi: 10.1024/0301-1526/a000491. PMID: 26986706
Evangelista A
Heart 2014 Jun;100(12):909-15. doi: 10.1136/heartjnl-2013-305048. PMID: 24842834

Recent systematic reviews

Sangiorgio G, Biondi A, Basile F, Vacante M
Minerva Chir 2020 Jun;75(3):169-172. doi: 10.23736/S0026-4733.20.08266-8. PMID: 32550726
Antoniou GA, Antoniou SA, Torella F
Eur J Vasc Endovasc Surg 2020 Mar;59(3):385-397. Epub 2019 Dec 30 doi: 10.1016/j.ejvs.2019.11.030. PMID: 31899100
Altobelli E, Rapacchietta L, Profeta VF, Fagnano R
Int J Environ Res Public Health 2018 Dec 10;15(12) doi: 10.3390/ijerph15122805. PMID: 30544688Free PMC Article
Aschacher T, Salameh O, Enzmann F, Messner B, Bergmann M
Int J Mol Sci 2017 Dec 21;19(1) doi: 10.3390/ijms19010003. PMID: 29267201Free PMC Article
Spanos K, Karathanos C, Saleptsis V, Giannoukas AD
Vascular 2016 Jun;24(3):323-36. Epub 2015 Jun 8 doi: 10.1177/1708538115590065. PMID: 26056151

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