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Aortic aneurysm, familial thoracic 4(AAT4)

MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
Synonyms: AAT4; Aortic aneurysm/aortic dissection and patent ductus arteriosus; MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): MYH11 (16p13.11)
OMIM®: 132900

Disease characteristics

The major cardiovascular manifestations of thoracic aortic aneurysms and aortic dissections (TAAD) include: (1) dilatation of the ascending thoracic aorta at the level of the sinuses of Valsalva or ascending aorta or both; and (2) dissections of the thoracic aorta involving either the ascending (Stanford type A dissections) or descending aorta (Stanford type B). Rarely an aneurysm involving the descending thoracic aorta is observed. Vascular manifestations can be the only findings. In the absence of surgical repair of the ascending aorta, affected individuals typically have progressive enlargement of the ascending aorta leading to an acute aortic dissection. The age of onset and presentation of the aortic disease are highly variable, as are the other vascular diseases and features associated with the aortic disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Dianna M Milewicz  |  Ellen Regalado   view full author information

Additional description

From GHR
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture). The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation. Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.  http://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection

Clinical features

Abnormal iris pigmentation
MedGen UID:
331733
Concept ID:
C1834387
Finding
Stroke
MedGen UID:
340407
Concept ID:
C1849743
Finding
Stroke
MedGen UID:
340407
Concept ID:
C1849743
Finding
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Bicuspid aortic valve
MedGen UID:
504889
Concept ID:
CN001500
Finding
The presence of an aortic valve with two instead of the normal three cusps (flaps).
Aortic regurgitation
MedGen UID:
504897
Concept ID:
CN001510
Finding
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Coronary artery disease
MedGen UID:
504904
Concept ID:
CN001526
Finding
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Dissecting aortic aneurysm
MedGen UID:
505299
Concept ID:
CN002383
Finding
Cystic medial necrosis
MedGen UID:
506685
Concept ID:
CN167906
Finding
A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.

Professional guidelines

PubMed

ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
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. [Epub ahead of print] PMID: 25173340
Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society
Can J Cardiol 2014 Jun;30(6):577-89. Epub 2014 Feb 28 doi: 10.1016/j.cjca.2014.02.018. [Epub ahead of print] PMID: 24882528
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article

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