Isolated Thoracic Aortic Aneurysm and Dissection
Cardiovascular manifestations of familial thoracic aortic aneurysms and aortic dissections (TAAD) include enlargement and dissection of the thoracic aorta in 2 or more family members. The thoracic aorta refers to the aorta in the chest cavity. Below the chest cavity, the aorta is called the abdominal aorta. Aneurysm and dissection can occur in the abdominal aorta as well but these are not commonly associated with familial TAAD. Cardiovascular manifestations are usually the only features of TAAD. Individuals typically have progressive enlargement of the aorta leading to either aortic dissection or consequent tear or rupture. The onset and rate of progression of aortic enlargement is highly variable. Features of aortic aneurysms and dissections are similar in males and females. The primary symptom of an aortic dissection is severe pain usually in the chest (front, back, or both), but occasionally in the abdomen when the tear involves the abdominal aorta. Aortic dissection is a serious, life-threatening situation so individuals with symptoms should seek care urgently. Aortic aneurysm generally do not cause any symptoms. If you have a family history of aortic aneurysm and/or dissection, it’s very important to seek evaluation even if you don’t have symptoms.
Diagnosis of TAAD requires cardiac consultation, an echocardiogram (ultrasound of the heart) to look for aortic enlargement, and genetic evaluation to rule out features of genetic syndromes such as Marfan syndrome or other connective tissue disorders.
Treatment for TAAD depends on the extent of aortic enlargement but may involve taking a medication to protect the heart and blood vessels and/or surgery for more serious heart or vessel problems associated with the condition. TAAD is not associated with other medical problems. With appropriate medical care, individuals with TAAD can live long and healthy lives.
Familial TAAD can be caused by alterations (mutations) in many different genes, however, these genes only are responsible for approximately 20% of families with TAAD. TAAD is inherited in an autosomal dominant pattern. This means that individuals with TAAD have a 50% chance to pass the gene mutation to each of their children. Some people who inherit the genetic mutation never have any health problems related to TAAD. However, they can still pass the gene mutation to their children who may develop aortic enlargement and or dissection.
Genetic testing can be done to try to identify the genetic mutation causing TAAD so other family members can have genetic testing to determine their risk for aortic enlargement and dissection associated with the condition.
Since TAAD is a genetic condition, the family members of someone who has the condition may be at risk for related medical problems. Close relatives (parents, siblings, and children) of someone with TAAD should be evaluated for the condition by consulting a cardiologist or geneticist familiar with the condition or having genetic testing if the gene mutation associated with the condition in the family has been found.
Individuals can be evaluated in the Marfan clinic at UCSF by calling (415) 353-2554. Genetics providers at other hospitals can be located by searching on this website.
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