An aneurysm is a balloon-like bulge in an artery. Arteries are blood vessels that carry blood from your heart to your organs. Aortic aneurysms are aneurysms that occur in the aorta, the main artery carrying oxygen-rich blood to your body. This article focuses on two types of aneurysms that affect the aorta: abdominal and thoracic aortic aneurysms.

The aorta has thick walls that withstand normal blood pressure. However, certain medical problems, genetic conditions, and trauma can damage or weaken these walls. The force of blood pushing against the weakened or injured walls can cause an aneurysm.

An aortic aneurysm can grow large and either rupture or split. A split is called a dissection and, like a rupture, is life-threatening. Early diagnosis and treatment may prevent serious or life-threatening complications. However, aortic aneurysms can develop and grow large before causing any symptoms. Doctors may be able to slow the growth of an aortic aneurysm with medicines or repair it with surgery if it is found before it ruptures or dissects.

There are two types of aortic aneurysm: thoracic aortic aneurysm and abdominal aortic aneurysm. Until recently, it was thought that thoracic aortic aneurysms and abdominal aortic aneurysms were due to the same cause. Now we know that the two types are separate diseases with different risk factors and causes.

Abdominal Aortic Aneurysm (AAA)

The most common place for an aneurysm is the part of the aorta that runs through the abdomen, called the abdominal aorta. The abdominal aorta provides oxygen-rich blood to the tissues and organs of the abdomen and lower limbs.

Thoracic Aortic Aneurysm (TAA)

A thoracic aortic aneurysm is a less common aneurysm that occurs in the chest portion of the aorta, above the diaphragm

Causes of Aortic Aneurysm

Aortic aneurysms are caused by a weakening of the aortic wall due to damage or injury. Many health conditions and lifestyle habits can put you at risk for damage to the aortic wall, including high blood pressure and smoking. A bulge may occur where the wall has been damaged and is weakened. If left untreated, the aortic wall will continue to weaken, and the bulge will grow. If it becomes large enough, the aortic aneurysm may rupture.

Risk Factors- Aortic Aneurysm

You may have an increased risk of developing an aortic aneurysm because of your age, family history, genes, lifestyle habits, medical conditions, or sex.

Age: Your risk for aortic aneurysms goes up as you age. Abdominal aortic aneurysms are most common in adults after age 65.

Family History and Genetics: Several familial or genetic conditions increase your risk for a thoracic aortic aneurysm. These include:

• Ehlers–Danlos syndrome
• Loeys–Dietz syndrome
• Marfan syndrome
• Turner syndrome
• Familial thoracic aortic aneurysms
• Bicuspid aortic valve (BAV), which is an abnormal aortic valve

Abdominal aortic aneurysms also run in families. One in 10 people with abdominal aortic aneurysms have a family history of abdominal aortic aneurysms. The chance of developing an abdominal aortic aneurysm is 1 in 5 for people who have a first degree relative with the condition, which means a parent, brother, sister, or child was affected.

Lifestyle Habits: Some lifestyle habits increase your risk of having an aortic aneurysm. These include:

• Cigarette smoking, which increases your risk for an aortic aneurysm, especially an abdominal aortic aneurysm. If you are a current smoker, an abdominal aortic aneurysm may grow more quickly and be more likely to rupture.
• Using stimulants such as cocaine
• Weight lifting

Medical Conditions: Medical conditions that are risk factors for aortic aneurysms include:

• Aneurysms of blood vessels in other parts of your body
• Chronic obstructive pulmonary disease (COPD)
• Cardiovascular conditions, such as atherosclerosis, ischemic heart disease, and peripheral artery disease
• High blood cholesterol
• High blood pressure, the leading risk factor for thoracic aortic aneurysms but also a risk factor for abdominal aortic aneurysm
• Infection, a risk factor for thoracic aortic aneurysms. Such a case is known as an infective thoracic aortic aneurysm and is usually caused by bacteria.
• Kidney conditions, such as chronic renal insufficiency, chronic kidney disease, and polycystic kidney disease
• Obesity
• Pheochromocytoma, a rare tumor of the adrenal gland that can lead to high blood pressure
• Trauma, such as from car accidents or falls, a risk factor for thoracic aortic aneurysms
• Vasculitis

Sex: Men are more likely than women to develop aortic aneurysms. However, an existing aneurysm is more likely to rupture at a smaller size in women than in men.

Who should be screened for Aortic Aneurysm

Certain groups of people may be screened for a thoracic aortic aneurysm. They include:

• People who have Marfan, Loeys–Dietz, Ehlers–Danlos, or Turner syndrome
• First-degree relatives of people who have a thoracic aortic aneurysm or a bicuspid aortic valve (BAV)–associated thoracic aortic aneurysm
• Relatives of people with familial thoracic aortic aneurysms who also have the genetic mutation

Certain groups of people who may be screened for abdominal aortic aneurysm include:

• Men and women 65 to 75 years old who have ever smoked or who have a first-degree relative who had an abdominal aortic aneurysm
• Men 65 to 75 years old who never smoked but have other risk factors, such as a family history of abdominal aortic aneurysms in any family member, other vascular aneurysms, or coronary heart disease
• Men and women more than 75 years old who are in good health, who have ever smoked, or who have a first-degree relative who had an abdominal aortic aneurysm.
• People who have peripheral artery disease, regardless of age, sex, smoking history, or family history

Signs, Symptoms, and Complications- Aortic Aneurysm

An aortic aneurysm may not cause any signs or symptoms until the aneurysm ruptures or dissects. The types of symptoms that occur before a rupture will depend on the location of the aneurysm and whether it has become large enough to affect other parts of your body. An aneurysm that ruptures or dissects is life-threatening.

Signs and symptoms

If you do have signs and symptoms of an aortic aneurysm, they may include:

• Difficult or painful swallowing if the aneurysm is pushing on your esophagus
• Difficulty breathing if it is pushing on your trachea, or windpipe
• Feeling full after not eating very much
• Hoarseness
• Pain in the neck, jaw, back, chest, abdomen or shoulder, depending on where the aneurysm is located
• Pulsating or throbbing feeling in your abdomen
• Shortness of breath if the aneurysm is pressing on your lung
• Swelling of the face, neck, or arms if the aneurysm is pushing on the superior vena cava. The superior vena cava is the main vein that returns blood from your upper body to your heart.

If you know you have an aortic aneurysm, it is important to know the signs and symptoms of a rupture, since quick treatment may be life-saving. Signs and symptoms of a rupture may include:

• Light-headedness
• Rapid heart rate
• Sudden, severe pain in your abdomen, chest, or back

Complications arising from Aortic Aneurysm

Complications from aortic aneurysms may be life-threatening and may include:

• Aortic dissection, which is a tear in the inner layer of the aortic wall. It causes blood to collect between the inner and middle layers of the aortic wall. This may lead to rupture of the aorta or not enough blood flow to your organs.
• Aortic insufficiency and aortic regurgitation, both of which occur when the aortic valve does not close properly because a nearby section of the aorta is enlarged. This allows some backward flow of blood back into the heart. As a result, your heart must work harder, which may lead to heart failure.
• Aortic rupture, which causes dangerous bleeding inside the body and can lead to shock
• Cardiac tamponade
• Kidney failure from lack of blood flow to the kidneys
• Lack of blood flow to the bowels, which causes inflammation and injury in the large intestine

Diagnosing Aortic Aneurysm

To diagnose an aortic aneurysm, your doctor will do a physical exam and an imaging test to confirm a screening test. An abdominal aortic aneurysm is diagnosed when your abdominal aorta is three centimeters or greater in diameter. The normal diameter of the thoracic aorta depends on your age, your sex, and which part of the thoracic aorta is measured.

Physical exam

During a physical exam, your doctor may do the following to look for an aortic aneurysm:

• Feel your abdomen to see whether an abdominal aortic aneurysm can be felt
• Listen to your heart for a heart murmur, softer heart sounds, or other changes in your blood flow that could be a sign of an aneurysm
• Check your pulse in your arms and legs to see whether it feels weaker than normal
• Look for signs and symptoms of medical conditions that are risk factors for an aortic aneurysm, such as Marfan or Ehlers-Danlos syndromes. This may include looking at your skin, muscles and bones, eyes, head and face, and heart.

Diagnostic tests and procedures

Different types of imaging studies may be used to diagnose your aortic aneurysm. Consider discussing the options with your doctor. Your doctor may order some of the following imaging tests to confirm or diagnose an aortic aneurysm:

• Computed tomography (CT) to provide information about the location, size and shape of an aneurysm. This may be the first test you get if you have sudden back or abdominal pain, if you already know you have an aortic aneurysm, or if your doctor feels a pulsating bulge in your abdomen while examining you. CT can provide information about the entire aorta, but for routine screening other diagnostic tests like echocardiography or ultrasound may be done first.
• Echocardiography to provide information about the size of the aortic aneurysm and about the thoracic aorta, which is close to heart. Other parts of the thoracic aorta are better seen with other imaging studies such as CT or magnetic resonance imaging (MRI).
• MRI to provide information about the size, shape, and location of the aneurysm
• Ultrasound to provide information about the size of the abdominal aortic aneurysm. If you have abdominal or back pain, an ultrasound can check for an abdominal aortic aneurysm or other possible causes of your pain. Once an aortic aneurysm is seen or suspected on ultrasound, you may have a CT scan or an MRI to provide more details about the shape or location of the aneurysm.

Tests for other medical conditions

Some conditions may mimic the symptoms of abdominal aortic aneurysms. To help diagnose an aortic aneurysm, your doctor may need to perform CT or ultrasound tests to find out whether your symptoms may be caused by other medical conditions, including:

• Appendicitis, inflammation of the appendix
• Cholecystitis, inflammation of the gallbladder often caused by gallstones
• Hiatal hernia, in which a small part of your stomach comes through the opening in your diaphragm
• Pancreatitis, inflammation of the pancreas
• Pericardial disorders, conditions that affect the sac that surrounds your heart
• Pulmonary embolism, a type of venous thromboembolism

Treatment- Aortic Aneurysm

Treatment for your aortic aneurysm will depend on its cause, its size and location, and the factors that put you at risk. Small aortic aneurysms may be managed with healthy lifestyle changes or medicine. The goal is to slow the growth of the aneurysm and lower the chance of rupture or dissection. Your doctor may treat other medical conditions that raise your risk for rupture or dissection, such as high blood pressure, coronary heart disease, chronic kidney disease, and high blood cholesterol. Surgery may be recommended to repair large aneurysms.

Healthy lifestyle changes

Your doctor may recommend heart-healthy lifestyle changes, such as the following:

• Quitting smoking to slow the growth of the aneurysm
• Heart-healthy eating to help lower high blood pressure or high blood cholesterol
• Managing stress to help control high blood pressure, especially for thoracic aortic aneurysms. Your doctor may also suggest that you avoid heavy weightlifting and powerful stimulants, such as cocaine.

Medicines

Your doctor may recommend medicines to treat an aortic aneurysm, including:

• Aspirin, especially if you have other cardiovascular risks
• Blood pressure medicines to lower blood pressure, slow down aneurysm growth, and lower the risk of rupture. These medicines include beta blockers, angiotensin-converting enzyme (ACE) inhibitors, and angiotensin receptor blockers (ARBs).
• Statins to control cholesterol levels, and stop or slow the growth of aortic aneurysms

Procedures or surgery

Depending on the cause or size of an aortic aneurysm or how quickly it is growing, your doctor may recommend surgery to repair it. Rupture or dissection of an aneurysm may require immediate surgical repair.

• Open surgical repair is the most common type of surgery. You will be asleep during the procedure. Your surgical team first makes a large incision, or cut, in your abdomen or chest, depending on the location of the aneurysm, then removes the aneurysm and sews a graft in its place. This graft is typically a tube made of leak-proof polyester. Recovery time for open surgical repair is about a month.
• Endovascular aneurysm repair (EVAR) is less invasive than open surgical repair. This is because the surgical cut is smaller, and you usually need less recovery time. EVAR is used to repair abdominal aortic aneurysms more often than to repair thoracic aortic aneurysms. During the procedure, your surgical team makes a small cut, usually in the groin, then guides a stent graft—a tube covered with fabric—through your blood vessels up to the aorta. The stent graft then expands and attaches to the aortic walls. A seal forms between the stent graft and the vessel wall to prevent blood from entering the aortic aneurysm.

Possible surgery-related complications

Complications of both types of aortic aneurysm repair can occur, and they may be life-threatening. These include:

• Bleeding and blood loss
• Blood clots in blood vessels leading to the bowel, kidneys, legs, or in the graft
• Damage to blood vessels or walls of the aorta when placing the stent graft. The stent graft may also move after it is placed.
• Endoleak, which is a blood leak around the stent graft into the aneurysm. Endoleak may cause rupture of the aneurysm if not treated.
• Gastrointestinal bleeding, which rarely occurs if an abnormal connection forms between the aorta and your intestines after the repair. Blood may show up in your stool, or your stool may be black.
• Heart complications such as heart attack or arrhythmia
• Decreased blood flow to the bowels, legs, kidneys or other organs during surgery. This may lead to injury to these organs.
• Infection of the incision or the graft
• Kidney damage
• Spinal cord injury which may cause paralysis
• Stroke

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These aneurysms can occur anywhere in the brain. Some small aneurysms may not show signs and are usually detected during imaging tests for other medical conditions. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. A larger aneurysm that is steadily growing may produce symptoms such as numbness, pain above and behind the eye, and paralysis on one side of the face.

Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness.

What are the symptoms?

Unruptured aneurysm
Most cerebral aneurysms do not show symptoms until they either become very large or rupture.  Small unchanging aneurysms generally will not produce symptoms. 

A larger aneurysm that is steadily growing may press on tissues and nerves causing:

• pain above and behind the eye
• numbness
• weakness
• paralysis on one side of the face
• a dilated pupil in the eye
• vision changes or double vision.

Ruptured aneurysm
When an aneurysm ruptures (bursts), one always experiences a sudden and extremely severe headache (e.g., the worst headache of one’s life) and may also develop:

• double vision
• nausea
• vomiting
• stiff neck
• sensitivity to light
• seizures
• loss of consciousness (this may happen briefly or may be prolonged)
• cardiac arrest.

Leaking aneurysm
Sometimes an aneurysm may leak a small amount of blood into the brain (called a sentinel bleed).  Sentinel or warning headaches may result from an aneurysm that suffers a tiny leak, days or weeks prior to a significant rupture.  However, only a minority of individuals have a sentinel headache prior to rupture. 

If you experience a sudden, severe headache, especially when it is combined with any other symptoms, you should seek immediate medical attention.

How are aneurysms classified?

Type
There are three types of cerebral aneurysms: 

• Saccular aneurysm.  A saccular aneurysm is a rounded sac containing blood, that is attached to a main artery or one of its branches.  Also known as a berry aneurysm (because it resembles a berry hanging from a vine), this is the most common form of cerebral aneurysm.  It is typically found on arteries at the base of the brain.  Saccular aneurysms occur most often in adults.
• Fusiform aneurysm.  A fusiform aneurysm balloons or bulges out on all sides of the artery. 
• Mycotic aneurysm.  A mycotic aneurysm occurs as the result of an infection that can sometimes affect the arteries in the brain.  The infection weakens the artery wall, causing a bulging aneurysm to form.  

Size
Aneurysms are also classified by size: small, large, and giant. 

• Small aneurysms are less than 11 millimeters in diameter (about the size of a large pencil eraser).
• Large aneurysms are 11 to 25 millimeters (about the width of a dime).
• Giant aneurysms are greater than 25 millimeters in diameter (more than the width of a quarter).

What causes a cerebral aneurysm?

Cerebral aneurysms form when the walls of the arteries in the brain become thin and weaken.  Aneurysms typically form at branch points in arteries because these sections are the weakest.  Occasionally, cerebral aneurysms may be present from birth, usually resulting from an abnormality in an artery wall.           

Risk factors for developing an aneurysm

Sometimes cerebral aneurysms are the result of inherited risk factors, including:

• genetic connective tissue disorders that weaken artery walls
• polycystic kidney disease (in which numerous cysts form in the kidneys)
• arteriovenous malformations (snarled tangles of arteries and veins in the brain that disrupt blood flow.  Some AVMs develop sporadically, or on their own.)
• history of aneurysm in a first-degree family member (child, sibling, or parent).

Other risk factors develop over time and include:

• untreated high blood pressure
• cigarette smoking
• drug abuse, especially cocaine or amphetamines, which raise blood pressure to dangerous levels. Intravenous drug abuse is a cause of infectious mycotic aneurysms.
• age over 40.

Less common risk factors include:

• head trauma
• brain tumor
• infection in the arterial wall (mycotic aneurysm).

Additionally, high blood pressure, cigarette smoking, diabetes, and high cholesterol puts one at risk of atherosclerosis (a blood vessel disease in which fats build up on the inside of artery walls), which can increase the risk of developing a fusiform aneurysm.

Risk factors for an aneurysm to rupture

Not all aneurysms will rupture.  Aneurysm characteristics such as size, location, and growth during follow-up evaluation may affect the risk that an aneurysm will rupture. In addition, medical conditions may influence aneurysm rupture.

Risk factors include:

• Smoking.  Smoking is linked to both the development and rupture of cerebral aneurysms. Smoking may even cause multiple aneurysms to form in the brain.
• High blood pressure.  High blood pressure damages and weakens arteries, making them more likely to form and to rupture. 
• Size.  The largest aneurysms are the ones most likely to rupture in a person who previously did not show symptoms.
• Location.  Aneurysms located on the posterior communicating arteries (a pair of arteries in the back part of the brain) and possibly those on the anterior communicating artery (a single artery in the front of the brain) have a higher risk of rupturing than those at other locations in the brain.
• Growth.  Aneurysms that grow, even if they are small, are at increased risk of rupture.
• Family history.  A family history of aneurysm rupture suggests a higher risk of rupture for aneurysms detected in family members.
• The greatest risk occurs in individuals with multiple aneurysms who have already suffered a previous rupture or sentinel bleed.

Diagnosing cerebral aneurysms

Most cerebral aneurysms go unnoticed until they rupture or are detected during medical imaging tests for another condition. 

If you have experienced a severe headache or have any other symptoms related to a ruptured aneurysm your doctor will order tests to determine if blood has leaked into the space between the skull bone and brain. 

Several tests are available to diagnose brain aneurysms and determine the best treatment. These include: 

• Computed tomography (CT).  This fast and painless scan is often the first test a physician will order to determine if blood has leaked into the brain.  CT uses x-rays to create two-dimensional images, or “slices,” of the brain and skull.  Occasionally a contrast dye is injected into the bloodstream prior to scanning to assess the arteries, and look for a possible aneurysm.  This process, called CT angiography (CTA), produces sharper, more detailed images of blood flow in the brain arteries.  CTA can show the size, location, and shape of an unruptured or a ruptured aneurysm. 
• Magnetic resonance imaging (MRI).   An MRI uses computer-generated radio waves and a magnetic field to create two- and three-dimensional detailed images of the brain and can determine if there has been bleeding into the brain.  Magnetic resonance angiography (MRA) produces detailed images of the brain arteries and can show the size, location, and shape of an aneurysm. 
• Cerebral angiography.  This imaging technique can find blockages in arteries in the brain or neck.  It also can identify weak spots in an artery, like an aneurysm.  The test is used to determine the cause of the bleeding in the brain and the exact location, size, and shape of an aneurysm.  Your doctor will pass a catheter (long, flexible tube) typically from the groin arteries to inject a small amount of contrast dye into your neck and brain arteries.  The contrast dye helps the X-ray create a detailed picture of the appearance of an aneurysm and a clear picture of any blockage in the arteries. 
• Cerebrospinal fluid (CSF) analysis.  This test measures the chemicals in the fluid that cushions and protects the brain and spinal cord (cerebrospinal fluid).  Most often a doctor will collect the CSF by performing a spinal tap (lumbar puncture), in which a thin needle is inserted into the lower back (lumbar spine) and a small amount of fluid is removed and tested.   The results will help detect any bleeding around the brain.  If bleeding is detected, additional tests would be needed to identify the exact cause of the bleeding. 

What are the complications of a ruptured cerebral aneurysm?

Aneurysms may rupture and bleed into the space between the skull and the brain (subarachnoid hemorrhage) and sometimes into the brain tissue (intracerebral hemorrhage). These are forms of stroke called hemorrhagic stroke.  The bleeding into the brain can cause a wide spectrum of symptoms, from a mild headache to permanent damage to the brain, or even death.  

After an aneurysm has ruptured it may cause serious complications such as:

• Rebleeding.  Once it has ruptured, an aneurysm may rupture again before it is treated, leading to further bleeding into the brain, and causing more damage or death.    
• Change in sodium level.  Bleeding in the brain can disrupt the balance of sodium in the blood supply and cause swelling in brain cells.  This can result in permanent brain damage. 
• Hydrocephalus.  Subarachnoid hemorrhage can cause hydrocephalus.  Hydrocephalus is a buildup of too much cerebrospinal fluid in the brain, which causes pressure that can lead to permanent brain damage or death.  Hydrocephalus occurs frequently after subarachnoid hemorrhage because the blood blocks the normal flow of cerebrospinal fluid. If left untreated, increased pressure inside the head can cause coma or death. 
• Vasospasm.  This occurs frequently after subarachnoid hemorrhage when the bleeding causes the arteries in the brain to contract and limit blood flow to vital areas of the brain.  This can cause strokes from lack of adequate blood flow to parts of the brain.

Seizures.  Aneurysm bleeding can cause seizures (convulsions), either at the time of bleed or in the immediate aftermath.  While most seizures are evident, on occasion they may only be seen by sophisticated brain testing.  Untreated seizures or those that do not respond to treatment can cause brain damage.

How are cerebral aneurysms treated?

Not all cerebral aneurysms require treatment.  Some very small unruptured aneurysms that are not associated with any factors suggesting a higher risk of rupture may be safely left alone and monitored with MRA or CTA to detect any growth.  It is important to aggressively treat any coexisting medical problems and risk factors.

Treatments for unruptured cerebral aneurysms that have not shown symptoms have some potentially serious complications and should be carefully weighed against the predicted rupture risk.

Treatment considerations for unruptured aneurysms
A doctor will consider a variety of factors when determining the best option for treating an unruptured aneurysm, including:

• type, size, and location of the aneurysm
• risk of rupture
• the person’s age and health
• personal and family medical history
• risk of treatment.

Individuals should also take the following steps to reduce the risk of aneurysm rupture:

• carefully control blood pressure
• stop smoking
• avoid cocaine use or other stimulant drugs. 

Treatments for unruptured and ruptured cerebral aneurysms
Surgery, endovascular treatments, or other therapies are often recommended to manage symptoms and prevent damage from unruptured and ruptured aneurysms.

Surgery
There are a few surgical options available for treating cerebral aneurysms.  These procedures carry some risk such as possible damage to other blood vessels, the potential for aneurysm recurrence and rebleeding, and a risk of stroke. 

• Microvascular clipping.  This procedure involves cutting off the flow of blood to the aneurysm and requires open brain surgery.  A doctor will locate the blood vessels that feed the aneurysm and place a tiny, metal, clothespin-like clip on the aneurysm’s neck to stop its blood supply.  Clipping has been shown to be highly effective, depending on the location, size, and shape of the aneurysm.  In general, aneurysms that are completely clipped do not recur. 

Endovascular treatment

• Platinum coil embolization.  This procedure is a less invasive procedure than microvascular surgical clipping.  A doctor will insert a hollow plastic tube (a catheter) into an artery, usually in the groin, and thread it through the body to the brain aneurysm.  Using a wire, the doctor will pass detachable coils (tiny spirals of platinum wire) through the catheter and release them into the aneurysm.  The coils block the aneurysm and reduce the flow of blood into the aneurysm. The procedure may need to be performed more than once during the person’s lifetime because aneurysms treated with coiling can sometimes recur.
• Flow diversion devices.  Other endovascular treatment options include placing a small stent (flexible mesh tube) similar to those placed for heart blockages, in the artery to reduce blood flow into the aneurysm.  A doctor will insert a hollow plastic tube (a catheter) into an artery, usually in the groin, and thread it through the body to the artery on which the aneurysm is located.   This procedure is used to treat very large aneurysms and those that cannot be treated with surgery or platinum coil embolization.    

Other treatments

Other treatments for a ruptured cerebral aneurysm aim to control symptoms and reduce complications.  These treatments include

• Antiseizure drugs (anticonvulsants).  These drugs may be used to prevent seizures related to a ruptured aneurysm. 
• Calcium channel-blocking drugs.  Risk of stroke by vasospasm can be reduced with calcium channel-blocking drugs.
• .   A shunt, which funnels cerebrospinal fluid from the brain to elsewhere in the body, may be surgically inserted into the brain following rupture if the buildup of cerebrospinal fluid (hydrocephalus) is causing harmful pressure on surrounding brain tissue. 

Rehabilitative therapy.   Individuals who have suffered a subarachnoid hemorrhage often need physical, speech, and occupational therapy to regain lost function and learn to cope with any permanent disability. 

What is the prognosis?

An unruptured aneurysm may go unnoticed throughout a person’s lifetime and not cause symptoms.

After an aneurysm bursts, the person’s prognosis largely depends on:

• age and general health
• preexisting neurological conditions
• location of the aneurysm
• extent of bleeding (and rebleeding)
• time between rupture and medical attention
• successful treatment of the aneurysm.

About 25 percent of individuals whose cerebral aneurysm has ruptured do not survive the first 24 hours; another 25 percent die from complications within 6 months.  People who experience subarachnoid hemorrhage may have permanent neurological damage.  Other individuals recover with little or no disability.  Diagnosing and treating a cerebral aneurysm as soon as possible will help increase the chances of making a full recovery. 

Recovery from treatment or rupture may take weeks to months. 

Additional resources

Offsite Links
Please note that the links below are to information and materials not hosted on Medika’s servers and are as such, not subject to our Terms of Use

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information also is available from the following organizations:

Brain Aneurysm Foundation
269 Hanover Street, Building 3
Hanover, MA 02339
Tel: 781-826-5556; 888-BRAIN02 (272-4602)
office@bafound.org

American Stroke Association: A Division of American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: 888-4STROKE (478-7653)
Fax: 214-706-5231
strokeinfo@heart.org

American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Tel: 847-378-0500/888-566-AANS (2267)
Fax: 847-378-0600
info@aans.org

Joe Niekro Foundation
26780 N. 77th St.
Scottsdale, AZ 85252
Tel: 602-318-1013 
info@joeniekrofoundation.com

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Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).

The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.

Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum).

Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head.

Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.

Causes of Marfan

The prevalence of Marfan Syndromw among the general public is approximately 1 in 5000 people.

Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils bind to molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body.

A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, microfibrils cannot bind to growth factors, so excess growth factors are available and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues in Marfan syndrome.

Inheritance Pattern

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.

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There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime from childhood through adulthood, and the severity is variable.

Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome can also have aneurysms or dissections in arteries throughout the body and have arteries with abnormal twists and turns (arterial tortuosity).

Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), an inward- and upward-turning foot (clubfoot), flat feet (pes planus), or elongated limbs with joint deformities called contractures that restrict the movement of certain joints.

A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia). In individuals with Loeys-Dietz syndrome, dural ectasia typically does not cause health problems. Malformation or instability of the spinal bones (vertebrae) in the neck is a common feature of Loeys-Dietz syndrome and can lead to injuries to the spinal cord.

Some affected individuals have joint inflammation (osteoarthritis) that commonly affects the knees and the joints of the hands, wrists, and spine.

People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after wound healing. The skin is frequently described as translucent, often with stretch marks (striae) and visible underlying veins. Some individuals with Loeys-Dietz syndrome develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax) or a protrusion of organs through gaps in muscles (hernias).

Other characteristic features include widely spaced eyes (hypertelorism), eyes that do not point in the same direction (strabismus), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and an opening in the roof of the mouth (cleft palate).

Individuals with Loeys-Dietz syndrome frequently develop immune system-related problems such as food allergies, asthma, or inflammatory disorders such as eczema or inflammatory bowel disease. The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms.

Causes

The five types of Loeys-Dietz syndrome are distinguished by their genetic cause: TGFBR1 gene mutations cause type I, TGFBR2 gene mutations cause type II, SMAD3 gene mutations cause type III, TGFB2 gene mutations cause type IV, and TGFB3 gene mutations cause type V.

These five genes play roles in a cell signaling pathway called the transforming growth factor beta (TGF-β) pathway, which directs the functions of the body’s cells during growth and development. This pathway also regulates the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells and is important for tissue strength and repair.

Mutations in the TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3 gene result in the production of a protein with reduced function. Even though the protein is less active, signaling within the TGF-β pathway occurs at an even greater intensity than normal in tissues throughout the body.

Researchers speculate that the activity of other proteins in this signaling pathway is increased to compensate for the protein whose function is reduced; however, the exact mechanism responsible for the increase in signaling is unclear. The overactive TGF-β pathway disrupts the development of the extracellular matrix and various body systems, leading to the signs and symptoms of Loeys-Dietz syndrome.

Inheritance Factors

Loeys-Dietz syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.

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