{"Name":"Aortic aneurysm, familial thoracic 4","DiseaseID__c":"GARD:0009876","id":9876,"encodedName":"aortic-aneurysm-familial-thoracic-4","IsDeleted":false,"Disease_Name_Full__c":"Aortic aneurysm, familial thoracic 4","Xref_IDs__c":"C1851504; C537784; MEDGEN:338704; MONDO:0007568; OMIM:132900","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007568","Disease_Description__c":"Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.","GARD_Name__c":"Aortic aneurysm, familial thoracic 4","GARD_Synonym__c":"aat4; aortic aneurysm, familial thoracic type 4; aortic aneurysm/aortic dissection and patent ductus arteriosus; familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11; myh11 familial thoracic aortic aneurysm and aortic dissection; myh11-related thoracic aortic aneurysms and aortic dissections","Curated_Disease_Description_Source__c":"MEDGEN:C1851504","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:132900","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007568","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MEDGEN:C1851504","GARD_Synonym__c":"aat4; aortic aneurysm, familial thoracic type 4; aortic aneurysm/aortic dissection and patent ductus arteriosus; familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11; myh11 familial thoracic aortic aneurysm and aortic dissection; myh11-related thoracic aortic aneurysms and aortic dissections","Name":"Aortic aneurysm, familial thoracic 4","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The John Ritter Foundation for Aortic Health","Website__c":"https://johnritterfoundation.org/"},{"Account_Name__c":"The Marfan Foundation","Website__c":"https://www.marfan.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1851504"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009876","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1120","Source__c":"Gene Review","Xref__c":"NBK1120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537784","Source__c":"MONDO:0007568","Xref__c":"C537784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338704","Source__c":"C1851504","Xref__c":"MEDGEN:338704"},{"URL__c":"https://www.omim.org/entry/132900","Source__c":"C1851504; MONDO:0007568","Xref__c":"OMIM:132900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851504","Source__c":"C1851504","Xref__c":"C1851504"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007568","Source__c":"GARD:0009876","Xref__c":"MONDO:0007568"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004933","HPO_Synonym__c":"Type A aortic dissection","HPO_Name__c":"Ascending aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","Feature__r":{"HPO_Description__c":"Abnormal pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008034","HPO_Name__c":"Abnormal iris pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002647","HPO_Synonym__c":"Tear in inner wall of large artery that carries blood away from heart","HPO_Name__c":"Aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012180","HPO_Synonym__c":"Arterial cystic medial necrosis","HPO_Name__c":"Cystic medial necrosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012493","HPO_Name__c":"Middle cerebral artery stenosis","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing of the carotid arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100546","HPO_Synonym__c":"Carotid stenosis; Narrowing of carotid artery","HPO_Name__c":"Carotid artery stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","Feature__r":{"HPO_Description__c":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001647","HPO_Synonym__c":"Aortic valve has two leaflets rather than three","HPO_Name__c":"Bicuspid aortic valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012495","HPO_Name__c":"Posterior cerebral artery stenosis","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the thoracic aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012727","HPO_Name__c":"Thoracic aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033505","HPO_Name__c":"Livedo reticularis","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004970","HPO_Synonym__c":"Aneurysm of the ascending tubular aorta; Ascending aortic aneurysm; Ascending aortic dilation; Bulging of wall of large artery located above heart; Dilatation of ascending aorta","HPO_Name__c":"Ascending tubular aorta aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012499","HPO_Synonym__c":"Type B aortic dissection","HPO_Name__c":"Descending aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:132900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012494","HPO_Name__c":"Anterior cerebral artery stenosis","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":["aat4"," aortic aneurysm, familial thoracic type 4"," aortic aneurysm/aortic dissection and patent ductus arteriosus"," familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11"," myh11 familial thoracic aortic aneurysm and aortic dissection"," myh11-related thoracic aortic aneurysms and aortic dissections"]}