Familial thoracic aortic aneurysm is an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...

dominant disorder of large

arteries An artery () is a blood vessel in humans and most other animals that takes oxygenated blood away from the heart in the systemic circulation to one or more parts of the body. Exceptions that carry deoxygenated blood are the pulmonary arteries in ...

. There is an association between familial thoracic aortic aneurysm and

Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically ha ...

as well as other hereditary connective tissue disorders.

Signs and symptoms

A degenerative breakdown of

collagen Collagen () is the main structural protein in the extracellular matrix of the connective tissues of many animals. It is the most abundant protein in mammals, making up 25% to 35% of protein content. Amino acids are bound together to form a trip ...

elastin Elastin is a protein encoded by the ''ELN'' gene in humans and several other animals. Elastin is a key component in the extracellular matrix of gnathostomes (jawed vertebrates). It is highly Elasticity (physics), elastic and present in connective ...

, and

smooth muscle Smooth muscle is one of the three major types of vertebrate muscle tissue, the others being skeletal and cardiac muscle. It can also be found in invertebrates and is controlled by the autonomic nervous system. It is non- striated, so-called bec ...

caused by aging contributes to weakening of the wall of the artery. In the aorta, this can result in the formation of a fusiform

aneurysm An aneurysm is an outward :wikt:bulge, bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also b ...

. There is also increased risk of

aortic dissection Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of agonizing ches ...

Genetics

Types include:

Diagnosis

The diagnosis of familial thoracic aortic aneurysm is established through a combination of clinical evaluation, imaging studies, and genetic testing. Patients especially those with a relevant family history are typically evaluated using noninvasive imaging modalities such as

Transthoracic echocardiography Echocardiography, also known as cardiac ultrasound, is the use of ultrasound to examine the heart. It is a type of medical imaging, using standard ultrasound or Doppler ultrasound. The visual image formed using this technique is called an echoc ...

and

Computed tomography A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or ...

, which can accurately assess aortic dimensions and detect early dilatation. In selected instances,

Magnetic resonance imaging Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and ...

(MRI) is utilized for high-resolution imaging of the aortic wall. Additionally, genetic testing for pathogenic variants in genes such as

FBN1 Fibrillin-1 is a protein that in humans is encoded by the ''FBN1'' gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10–12 nm calcium-binding microfibrils. These micro ...

and

ACTA2 ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional pr ...

may confirm a familial predisposition to aortic pathology. Early detection is critical for risk stratification and timely intervention, thereby reducing the likelihood of progression to dissection or rupture.

Treatment

Management of familial thoracic aortic aneurysm involves both medical and surgical interventions, tailored to the patient’s aortic dimensions, progression rate, and underlying genetic predisposition. Medical therapy primarily aims to reduce hemodynamic stress on the aortic wall through the use of

Beta blockers Beta blockers, also spelled β-blockers, are a class of medications that are predominantly used to manage abnormal heart rhythms (arrhythmia), and to protect the heart from a second heart attack after a first heart attack (secondary prevention). ...

and

Angiotensin receptor blockers Angiotensin II receptor blockers (ARBs), formally angiotensin II receptor type 1 (AT1) antagonists, also known as angiotensin receptor blockers, angiotensin II receptor antagonists, or AT1 receptor antagonists, are a group of pharmaceuticals tha ...

, which help in controlling blood pressure and heart rate. Regular imaging surveillance using modalities such as

and Computed tomography is essential for monitoring aneurysm progression. Surgical repair is recommended when the aneurysm reaches a critical diameter or shows rapid expansion; the choice of procedure depends on the extent and location of the dilatation. Emerging strategies, including gene-directed therapies and novel molecular targets, are under investigation to improve long-term outcomes in this high-risk population.

Terminology

It is sometimes called "Erdheim cystic medial necrosis of aorta", after

Jakob Erdheim Jakob Erdheim (24 May 1874, Boryslav, Galicia – 18 April 1937, Vienna) was an Austrian pathologist.necrosis Necrosis () is a form of cell injury which results in the premature death of cells in living tissue by autolysis. The term "necrosis" came about in the mid-19th century and is commonly attributed to German pathologist Rudolf Virchow, who i ...

is not always found.

References

External links

GeneReview/NCBI/NIH/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections
{{Vascular diseases Diseases of the aorta Cardiogenetic disorders