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Familial abdominal aortic aneurysm 1(AAA1)

MedGen UID:
56524
Concept ID:
C0162871
Disease or Syndrome
Synonyms: AAA1
SNOMED CT: Abdominal aortic aneurysm (233985008); AAA - Abdominal aortic aneurysm (233985008)
 
Cytogenetic location: 19q13
OMIM®: 100070

Definition

An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. [from MeSH]

Clinical features

Alexia
MedGen UID:
1809
Concept ID:
C0002018
Finding
An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Motor aphasia
MedGen UID:
1622
Concept ID:
C0003550
Mental or Behavioral Dysfunction
An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions).
Apraxia
MedGen UID:
8166
Concept ID:
C0003635
Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Depressivity
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.
Mutism
MedGen UID:
6476
Concept ID:
C0026884
Disease or Syndrome
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)
Perseveration
MedGen UID:
66686
Concept ID:
C0233651
Mental or Behavioral Dysfunction
Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Dysgraphia
MedGen UID:
115942
Concept ID:
C0234144
Mental or Behavioral Dysfunction
A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Sign or Symptom
A noticeable change in a person's behavior and thinking. Causes include depression, drug or alcohol abuse, brain injuries, brain tumors, and Alzheimer's disease.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
Senile plaques
MedGen UID:
83079
Concept ID:
C0333463
Acquired Abnormality
Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
Frontotemporal dementia
MedGen UID:
83266
Concept ID:
C0338451
Disease or Syndrome
The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome.
Abnormality of the cerebral white matter
MedGen UID:
181756
Concept ID:
C0948163
Pathologic Function
An abnormality of the cerebral white matter.
Dysphasia
MedGen UID:
242346
Concept ID:
C0973461
Mental or Behavioral Dysfunction
Impairment of verbal communication skills, often resulting from brain damage.
Thickened nuchal skin fold
MedGen UID:
324644
Concept ID:
C1836940
Finding
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637).
Abnormal lower motor neuron morphology
MedGen UID:
356272
Concept ID:
C1865412
Finding
Any structural anomaly of the lower motor neuron.
Restlessness
MedGen UID:
854457
Concept ID:
C3887611
Sign or Symptom
An inability to rest, relax, or be still.
Astrocytosis
MedGen UID:
854483
Concept ID:
C3887640
Pathologic Function
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Frontotemporal cerebral atrophy
MedGen UID:
867226
Concept ID:
C4021584
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.
EEG with continuous slow activity
MedGen UID:
869052
Concept ID:
C4023470
Finding
EEG showing diffuse slowing without interruption.
Temporal cortical atrophy
MedGen UID:
870489
Concept ID:
C4024936
Disease or Syndrome
Atrophy of the temporal cortex.
Spoken Word Recognition Deficit
MedGen UID:
892986
Concept ID:
C4072928
Mental or Behavioral Dysfunction
Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.
Dilatation of abdominal aorta
MedGen UID:
1380066
Concept ID:
C4476541
Anatomical Abnormality
MedGen UID:
425862
Concept ID:
CN006088
MedGen UID:
776681
Concept ID:
CN184635
Neoplasm of brain
MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
A benign or malignant neoplasm that arises from or metastasizes to the brain.
Stroke
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)
Lewy bodies
MedGen UID:
43126
Concept ID:
C0085200
Cell Component
Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.
Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease.
The following clinical features are unrelated to Familial abdominal aortic aneurysm 1

Professional guidelines

PubMed

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

van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Blankensteijn JD, Böckler D, Stolker RJ, Verhagen HJM
Eur J Vasc Endovasc Surg 2017 Aug;54(2):142-149. Epub 2017 Jun 2 doi: 10.1016/j.ejvs.2017.04.018. PMID: 28579278
van de Luijtgaarden KM, Rouwet EV, Hoeks SE, Stolker RJ, Verhagen HJ, Majoor-Krakauer D
Vasc Med 2017 Apr;22(2):112-118. Epub 2017 Mar 1 doi: 10.1177/1358863X16686409. PMID: 28429660
Krishna SM, Seto SW, Jose R, Li J, Moxon J, Clancy P, Crossman DJ, Norman P, Emeto TI, Golledge J
Clin Sci (Lond) 2017 Jun 1;131(12):1261-1281. Epub 2017 Jun 7 doi: 10.1042/CS20160970. PMID: 28364044
Ye Z, Bailey KR, Austin E, Kullo IJ
Vasc Med 2016 Feb;21(1):41-6. Epub 2015 Nov 12 doi: 10.1177/1358863X15611758. PMID: 26566659
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Diagnosis

Gianfagna F, Veronesi G, Bertù L, Tozzi M, Tarallo A, Ferrario MM, Castelli P; RoCAV Project Investigators.
BMC Cardiovasc Disord 2016 Nov 29;16(1):243. doi: 10.1186/s12872-016-0420-2. PMID: 27894269Free PMC Article
Jones GT, Phillips LV, Williams MJ, van Rij AM, Kabir TD
J Am Heart Assoc 2016 Apr 28;5(5) doi: 10.1161/JAHA.115.002993. PMID: 27126477Free PMC Article
Ye Z, Austin E, Schaid DJ, Kullo IJ
Atherosclerosis 2016 Mar;246:274-9. Epub 2016 Jan 5 doi: 10.1016/j.atherosclerosis.2015.12.031. PMID: 26820802Free PMC Article
Ye Z, Bailey KR, Austin E, Kullo IJ
Vasc Med 2016 Feb;21(1):41-6. Epub 2015 Nov 12 doi: 10.1177/1358863X15611758. PMID: 26566659
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Therapy

van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Blankensteijn JD, Böckler D, Stolker RJ, Verhagen HJM
Eur J Vasc Endovasc Surg 2017 Aug;54(2):142-149. Epub 2017 Jun 2 doi: 10.1016/j.ejvs.2017.04.018. PMID: 28579278
Aslam A, Fisher CM, Thoo C, Neale ML, Thomas SD
Ann Vasc Surg 2017 Jul;42:176-182. Epub 2017 Mar 11 doi: 10.1016/j.avsg.2016.10.056. PMID: 28288885
Nilsson O, Hultgren R, Letterstål A
J Vasc Nurs 2017 Mar;35(1):4-11. doi: 10.1016/j.jvn.2016.08.003. PMID: 28224953
Gianfagna F, Veronesi G, Bertù L, Tozzi M, Tarallo A, Ferrario MM, Castelli P; RoCAV Project Investigators.
BMC Cardiovasc Disord 2016 Nov 29;16(1):243. doi: 10.1186/s12872-016-0420-2. PMID: 27894269Free PMC Article
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Prognosis

van de Luijtgaarden KM, Rouwet EV, Hoeks SE, Stolker RJ, Verhagen HJ, Majoor-Krakauer D
Vasc Med 2017 Apr;22(2):112-118. Epub 2017 Mar 1 doi: 10.1177/1358863X16686409. PMID: 28429660
Lindquist Liljeqvist M, Hultgren R, Siika A, Gasser TC, Roy J
J Vasc Surg 2017 Apr;65(4):1014-1021.e4. doi: 10.1016/j.jvs.2016.10.074. PMID: 28342508
Aslam A, Fisher CM, Thoo C, Neale ML, Thomas SD
Ann Vasc Surg 2017 Jul;42:176-182. Epub 2017 Mar 11 doi: 10.1016/j.avsg.2016.10.056. PMID: 28288885
Ye Z, Austin E, Schaid DJ, Kullo IJ
Atherosclerosis 2016 Mar;246:274-9. Epub 2016 Jan 5 doi: 10.1016/j.atherosclerosis.2015.12.031. PMID: 26820802Free PMC Article
Galora S, Saracini C, Pratesi G, Sticchi E, Pulli R, Pratesi C, Abbate R, Giusti B
J Vasc Surg 2015 Mar;61(3):787-92. Epub 2014 Jan 11 doi: 10.1016/j.jvs.2013.10.090. PMID: 24423473

Clinical prediction guides

van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Blankensteijn JD, Böckler D, Stolker RJ, Verhagen HJM
Eur J Vasc Endovasc Surg 2017 Aug;54(2):142-149. Epub 2017 Jun 2 doi: 10.1016/j.ejvs.2017.04.018. PMID: 28579278
Aslam A, Fisher CM, Thoo C, Neale ML, Thomas SD
Ann Vasc Surg 2017 Jul;42:176-182. Epub 2017 Mar 11 doi: 10.1016/j.avsg.2016.10.056. PMID: 28288885
Jones GT, Phillips LV, Williams MJ, van Rij AM, Kabir TD
J Am Heart Assoc 2016 Apr 28;5(5) doi: 10.1161/JAHA.115.002993. PMID: 27126477Free PMC Article
Ye Z, Austin E, Schaid DJ, Kullo IJ
Atherosclerosis 2016 Mar;246:274-9. Epub 2016 Jan 5 doi: 10.1016/j.atherosclerosis.2015.12.031. PMID: 26820802Free PMC Article
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Recent systematic reviews

Sampson UK, Norman PE, Fowkes FG, Aboyans V, Song Y, Harrell FE Jr, Forouzanfar MH, Naghavi M, Denenberg JO, McDermott MM, Criqui MH, Mensah GA, Ezzati M, Murray C
Glob Heart 2014 Mar;9(1):159-70. doi: 10.1016/j.gheart.2013.12.009. PMID: 25432125
Antoniou GA, Georgiadis GS, Antoniou SA, Granderath FA, Giannoukas AD, Lazarides MK
J Vasc Surg 2011 Oct;54(4):1175-81. Epub 2011 Aug 6 doi: 10.1016/j.jvs.2011.02.065. PMID: 21820838
van Walraven C, Wong J, Morant K, Jennings A, Jetty P, Forster AJ
J Vasc Surg 2010 Aug;52(2):282-9.e1-2. Epub 2010 Jun 11 doi: 10.1016/j.jvs.2010.03.006. PMID: 20541348
Eckstein HH, Böckler D, Flessenkämper I, Schmitz-Rixen T, Debus S, Lang W
Dtsch Arztebl Int 2009 Oct;106(41):657-63. Epub 2009 Oct 9 doi: 10.3238/arztebl.2009.0657. PMID: 19946430Free PMC Article
Fleming C, Whitlock EP, Beil TL, Lederle FA
Ann Intern Med 2005 Feb 1;142(3):203-11. PMID: 15684209

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