pseudoaneurysm: para-anastomotic graft failure following a prior aortic graft repair, vascular injury from penetrating mechanisms (gunshot, knife), or iatrogenic injury during hip replacement, lumbar disc surgery or other pelvic surgery

Behcet’s disease

fibromuscular dysplasia

infected aneurysm including Salmonella, Staphylococcus aureus, Klebsiella and Candida Takayasu’s arteritis
connective tissue disorders
- vascular Ehlers-Danlos syndrome (EDS)
- Loeys-Dietz syndrome
- Marfan syndrome.
- ectopia lentis (dislocatie)
- cutis laxa type I (severe cardiopulmonary lesions, including infantile emphysema and/or supravalvular aortic stenosis)


Ehlers-Danlos

Klassieke type (voorheen typen 1 en 2)	·      Gegeneraliseerde hypermobiliteit ·      Hyperelastische huid, afwijkende littekens	·      (Sub)luxaties gewrichten ·      Zachte huid, molluscoide pseudotumoren, hematomen ·      Spierhypotonie als klein kind	Autosomaal dominant
Hypermobiliteitstype (voorheen type 3)	·      Gegeneraliseerde hypermobiliteit ·      Zacht aanvoelende huid	·      (Sub)luxaties gewrichten ·      Artralgie, vermoeidheid	Autosomaal dominant
Vaat type (voorheen type 4)	·      Dunne, doorschijnende huid, weefselfragiliteit, hematomen ·      Karakteristiek gelaat	·      Hypermobiliteit ·      Platvoeten	Autosomaal dominant
Kyfoscoliose type (voorheen type 6)	·      Gegeneraliseerde hypermobiliteit ·      Hypotonie ·      Zwakke sclerae	·      Weefselzwakte, atrofische littekens ·      Hematomen, vaatrupturen	Autosomaal recessief
Artrochalasia type (voorheen type 7a)	·      Gegeneraliseerde hypermobiliteit ·      Aangeboren heupluxatie ·      hypotonie	·      Navel en/of liesbreuk ·      Vroeggeboorte	Autosomaal dominant
Dermatosparaxis type (voorheen type 7)	·      Kwetsbare, als deeg aanvoelende huid ·      Extra huidplooien		Autosomaal recessief

Marfan

    Afwijkingen aan hart en bloedvaten

    Een toenemende verwijding van de grote lichaamsslagader (de aorta), een lekkende aortaklep en een doorbuigende mitralisklep zijn de kenmerken van het marfansyndroom. Deze hart- en vaatafwijkingen zijn voor Marfanpatiënten de meest levensbedreigende complicaties. Met name basis van aorta.
    Afwijkingen aan de ogen

    Verplaatsing van de ooglens (lensluxatie), bijziendheid, verhoogde oogboldruk en netvliesloslating zijn kenmerken die wijzen op het marfansyndroom.
    Afwijkingen aan het skelet

    Afwijkingen in de vorm van de borstkas; naar verhouding meestal lange armen, vingers en benen; een opvallend lange lichaamslengte en slappe gewrichtsbanden die platvoeten veroorzaken; smalle kaken en een hoog verhemelte. Overbewegelijke gewrichten en scoliose zijn aanwijzingen voor het marfansyndroom.
    Durale ectasie

    Durale ectasie is een verwijding van het vlies om het ruggenmerg. Dit vlies (dura mater) is gevuld met hersenvocht en ligt als bescherming om de zenuwen. Door verwijding van het vlies kan het op de uiteinden van zenuwen drukken op de plaatsen waar die het ruggenmerg verlaten. Deze drukpunten kunnen klachten geven.
    Longproblemen bij het marfansyndroom

    Door de verzwakking van het bindweefsel bij mensen met Marfan kan de structuur van de longen niet goed zijn. Hierdoor kunnen longproblemen ontstaan.


Loeys-Dietz

The main clinical characteristics include:

·      Widely spaced eyes (orbital hypertelorism)

·      Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)

·      Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

Other findings can include:

·      Scoliosis or Kyphosis

·      Indented or protruding chest wall (pectus excavatum or pectus carinatum)

·      Contractures of fingers and toes (camptodactyly)

·      Long fingers and lax joints

·      Club foot

·      Premature fusion of the skull bones (craniosynostosis)

·      Joint hypermobility

·      Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)

·      Translucency of the skin with velvety texture

·      Abnormal junction of the brain and medulla (Arnold-Chiari malformation)

·      Bicuspid aortic valves

Many of the physical findings typical in Loeys–Dietz syndrome are also found in Marfan syndrome cases, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). However, it also has some additional traits not typical of Marfan patients, including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.

 

 

 

 

 

The common clinical feature in patients with Behçet’s disease is the presence of recurrent and usually painful mucocutaneous ulcers. Other clinical manifestations of this disorder are more variable among different patients and populations.

Severity is generally greater in men. The greatest morbidity and mortality occur with ocular disease (affecting up to two-thirds of patients), vascular disease (affecting up to one-third of patients), and central nervous system disease (affecting 10 to 20 percent of patients). Cutaneous and articular manifestations are common. Renal disease and peripheral nervous system involvement are rare compared with other vasculitides [20].

Although there are limited data on children with Behçet's disease, clinical manifestations appear to generally be similar to those in adults [7-9]. Among some populations, there may be differences in the frequencies or types of certain manifestations, including neurologic disease

Behçet’s disease is more common (and often more severe) along the ancient silk road, which extends from eastern Asia to the Mediterranean [4,5]. It is most common in Turkey (80 to 370 cases per 100,000) while the prevalence ranges from 13.5 to 35 per 100,000 in Japan, Korea, China, Iran, Iraq, and Saudi Arabia [4]. By comparison, the prevalence is from 1 per 15,000 to 1 per 500,000 in North American (Olmsted County, Minnesota) and Northern European countries [6]. The prevalence is similar in men and women in the areas where it is more common, but women are affected more commonly in reports from the United States and northern Europe. It typically affects young adults 20 to 40 years of age but is infrequently also seen in children [7-9]. The disease appears to be more severe in young, male, and Middle Eastern or Far Eastern patients [10-16]. Most cases of Behçet’s are sporadic, although families with multiple affected members, which is known as familial clustering, have been reported, and having a first-degree relative with Behçet’s does increase risk for the disease [17,18]. Earlier onset of disease in successive generations, known as genetic anticipation, has been described

 

MANIFESTATIONS — Disease manifestations may result from the following mechanisms [25,26]:

·        Ischemia related to stenosis

·        Spontaneous dissection and occlusion of major arteries

·        Rupture of aneurysms

·        Embolization of intravascular thrombi from aneurysmal segments

Therefore, disease presentation may vary widely, depending upon the arterial segment involved, the length and degree of stenosis, and the type of fibromuscular dysplasia (FMD). The condition may be asymptomatic and discovered incidentally or, in its extreme form, may present as a multi-system disease mimicking necrotizing vasculitis [27,28]. Occasionally, associated aneurysms can rupture [15].

Although any symptom or sign can develop in any patient, the clinical presentation varies somewhat in men as compared with women [29]. Manifestations of renal FMD (eg, hypertension, flank pain) are more likely to occur in men as are arterial dissections and aneurysms. In contrast, manifestations of cerebrovascular FMD (eg, headache, pulsatile tinnitus, neck pain, carotid bruit) are more likely to occur in women.

 

 

 

 

Takayasu arteritis is an uncommon chronic vasculitis of unknown etiology, which primarily affects the aorta and its primary branches. Women are affected in 80 to 90 percent of cases, with an age of onset that is usually between 10 and 40 years. It has a worldwide distribution, with the greatest prevalence in Asians. The inflammation may be localized to a portion of the thoracic or abdominal aorta and branches, or may involve the entire vessel. Although there is considerable variability in disease expression, the initial vascular lesions frequently occur in the left middle or proximal subclavian artery. (See 'Introduction' above.)

●The pathogenesis of Takayasu arteritis is poorly understood. Cell-mediated mechanisms are thought to be of primary importance and may be similar to those in giant cell (temporal) arteritis. Antiendothelial antibodies may also have a role. Accelerated atherosclerosis may occur. (See 'Pathogenesis' above.)

●Systemic symptoms are common in the early phase of Takayasu arteritis. The presence of fever, malaise, weight loss, myalgias, and ischemic symptoms or signs of one or more large arterial stenoses should raise a suspicion for Takayasu arteritis when these features occur in someone younger than 40 years. (See 'Clinical manifestations' above and 'Symptoms' above and 'Diagnostic approach' above.)

●Vascular symptoms are rare at presentation, but evidence of vascular involvement and insufficiency becomes clinically apparent as the disease progresses due to dilation, narrowing, or occlusion of the proximal or distal branches of the aorta. The extremities become cool, and arm or leg claudication may occur with use. Subclavian artery involvement is common, and a stenotic lesion proximal to the origin of the vertebral artery can lead to neurologic symptoms or syncope related to the so-called subclavian steal syndrome. (See 'Clinical manifestations' above and 'Symptoms' above.)

●Patients frequently look chronically ill, and fever may be present. Other physical findings include reduced blood pressure in one or both arms, asymmetrically diminished arterial pulses in the arms and legs, bruits over various vessels, large joint synovitis, and hypertension. Laboratory changes reflect the inflammatory process but are mostly nonspecific, including a normochromic normocytic anemia of chronic disease and elevated acute phase reactants, which are helpful diagnostically by providing evidence of an inflammatory disorder. (See 'Physical examination' above and 'Laboratory findings' above and 'Diagnostic approach' above.)

 

 

 

 

vascular Ehlers-Danlos syndrome (EDS)
Loeys-Dietz syndrome
Marfan syndrome.
ectopia lentis (dislocatie)
cutis laxa type I (severe cardiopulmonary lesions, including infantile emphysema and/or supravalvular aortic stenosis)


Ehlers-Danlos

Klassieke type (voorheen typen 1 en 2)	Gegeneraliseerde hypermobiliteit Hyperelastische huid, afwijkende littekens	(Sub)luxaties gewrichten Zachte huid, molluscoide pseudotumoren, hematomen Spierhypotonie als klein kind	Autosomaal dominant
Hypermobiliteitstype (voorheen type 3)	Gegeneraliseerde hypermobiliteit Zacht aanvoelende huid	(Sub)luxaties gewrichten Artralgie, vermoeidheid	Autosomaal dominant
Vaat type (voorheen type 4)	Dunne, doorschijnende huid, weefselfragiliteit, hematomen Karakteristiek gelaat	Hypermobiliteit Platvoeten	Autosomaal dominant
Kyfoscoliose type (voorheen type 6)	Gegeneraliseerde hypermobiliteit Hypotonie Zwakke sclerae	Weefselzwakte, atrofische littekens Hematomen, vaatrupturen	Autosomaal recessief
Artrochalasia type (voorheen type 7a)	Gegeneraliseerde hypermobiliteit Aangeboren heupluxatie hypotonie	Navel en/of liesbreuk Vroeggeboorte	Autosomaal dominant
Dermatosparaxis type (voorheen type 7)	Kwetsbare, als deeg aanvoelende huid Extra huidplooien		Autosomaal recessief

Marfan

    Afwijkingen aan hart en bloedvaten

    Een toenemende verwijding van de grote lichaamsslagader (de aorta), een lekkende aortaklep en een doorbuigende mitralisklep zijn de kenmerken van het marfansyndroom. Deze hart- en vaatafwijkingen zijn voor Marfanpatiënten de meest levensbedreigende complicaties. Met name basis van aorta.
    Afwijkingen aan de ogen

    Verplaatsing van de ooglens (lensluxatie), bijziendheid, verhoogde oogboldruk en netvliesloslating zijn kenmerken die wijzen op het marfansyndroom.
    Afwijkingen aan het skelet

    Afwijkingen in de vorm van de borstkas; naar verhouding meestal lange armen, vingers en benen; een opvallend lange lichaamslengte en slappe gewrichtsbanden die platvoeten veroorzaken; smalle kaken en een hoog verhemelte. Overbewegelijke gewrichten en scoliose zijn aanwijzingen voor het marfansyndroom.
    Durale ectasie

    Durale ectasie is een verwijding van het vlies om het ruggenmerg. Dit vlies (dura mater) is gevuld met hersenvocht en ligt als bescherming om de zenuwen. Door verwijding van het vlies kan het op de uiteinden van zenuwen drukken op de plaatsen waar die het ruggenmerg verlaten. Deze drukpunten kunnen klachten geven.
    Longproblemen bij het marfansyndroom

    Door de verzwakking van het bindweefsel bij mensen met Marfan kan de structuur van de longen niet goed zijn. Hierdoor kunnen longproblemen ontstaan.


Loeys-Dietz

The main clinical characteristics include:

• Widely spaced eyes (orbital hypertelorism)
• Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)
• Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

Other findings can include:

• Scoliosis or Kyphosis
• Indented or protruding chest wall (pectus excavatum or pectus carinatum)
• Contractures of fingers and toes (camptodactyly)
• Long fingers and lax joints
• Club foot
• Premature fusion of the skull bones (craniosynostosis)
• Joint hypermobility
• Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)
• Translucency of the skin with velvety texture
• Abnormal junction of the brain and medulla (Arnold-Chiari malformation)
• Bicuspid aortic valves

Many of the physical findings typical in Loeys–Dietz syndrome are also found in Marfan syndrome cases, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). However, it also has some additional traits not typical of Marfan patients, including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.