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What are congenital heart defects?

Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a baby's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.

Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.

There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:

• Septal defects ("hole in the heart") - openings in the wall between the left and right sides of the heart
• Heart valve defects - problems with the valves that control the flow of blood through the heart
• Defects in the large blood vessels that carry blood in and out of the heart

Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.

What causes congenital heart defects?

Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.

Who is more likely to have a baby with a congenital heart defect?

Several things may increase the chance that your baby has a congenital heart defect, such as:

• Your health before and during pregnancy, including:
  • Having diabetes before pregnancy or developing it in the first 3 months of pregnancy (diabetes that develops later in pregnancy isn't a major risk for heart defects). Carefully controlling your blood sugar before and during pregnancy can lower your baby's risk of congenital heart defects.
  • Having phenylketonuria (PKU), a rare inherited disorder that affects how the body uses a protein in foods. If you have PKU, eating a low-protein diet before getting pregnant can lower your baby's risk of having a congenital heart defect.
  • Having rubella (German measles) during pregnancy.
• Your contact with certain substances during pregnancy, including:
  • Smoking or secondhand smoke (breathing smoke from another smoker).
  • Certain medicines, such as angiotensin-converting (ACE) inhibitors for high blood pressure and retinoic acids for acne. If you're pregnant or plan to get pregnant, talk with your health care provider about all the medicines you take.
• Your family history and genetics. In most cases, congenital heart defects don't run in families. But your chance of having a baby with a congenital heart defect does go up if you or the other parent has a congenital heart defect, or if you already have a child with a congenital heart defect.

What are the symptoms of congenital heart defects?

Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.

Common signs and symptoms of congenital heart defects include:

• Cyanosis - a bluish color to the skin, lips, and fingernails. It happens when there isn't enough oxygen in the blood.
• Fatigue - your baby may be unusually sleepy and may become very tired during feedings.
• Poor blood flow.
• Fast or difficult breathing.
• Heart murmur - an unusual sound between heartbeats.

What other problems do congenital heart defects cause?

Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.

Children with congenital heart defects are more likely to:

• Be smaller than other children
• Have problems or delays in mental, and emotional growth, and behavior, such as:
  • Speech and language problems
  • Attention deficit hyperactivity disorder (ADHD)

People with congenital heart defects may develop other health conditions, including:

• Endocarditis - an infection of lining of the heart and valves
• Arrhythmia - a problem with the rate or rhythm of your heartbeat
• Heart failure - when your heart can't pump enough blood to the body
• Pulmonary hypertension - high blood pressure in your lungs
• Kidney and liver disease

How are congenital heart defects diagnosed?

• Before a baby is born, your provider may use ultrasound pictures of the baby's heart to look for heart defects. This is called a fetal echocardiogram. It's done between weeks 18 and 22 of pregnancy.
• During the first few days after birth, all newborns are checked for congenital heart defects. A pulse oximeter is clipped to your baby's hands or feet to measure blood oxygen. If it shows low levels of blood oxygen, more tests will be needed to find out if your baby has a heart defect.
• To diagnose congenital heart defects in babies, children, and adults, a provider may use many tools, including:
  • A physical exam.
  • Certain heart tests to see how the heart is working.
  • Genetic testing to see if certain gene problems caused the defect.

What are the treatments for congenital heart defects?

Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:

• Cardiac catheterization to repair simple defects, such as a small hole in the inside wall of the heart. A catheterization uses a thin tube guided through a vein and into the heart.
• Heart surgery may be needed to:
  • Repair defects in the heart and blood vessels.
  • Repair or replace a heart valve.
  • Place a device in the chest to help the heart pump blood.
  • Do a heart transplant.
• Medicine is often used if your baby has a specific type of congenital heart defect called patent ductus arteriosus.

All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.

Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.

NIH: National Heart, Lung, and Blood Institute

What is a tremor?

A tremor is a neurological condition that includes shaking or trembling movements in one or more parts of your body. It most often affects the hands. But it can also affect the arms, legs, head, vocal cords, and torso (trunk). A tremor is involuntary, meaning that you cannot control it. It happens because of muscle contractions.

A tremor may come and go, or it may be constant. It can happen on its own or be caused by another disorder. It is not life threatening, but it may cause challenges. It can make it hard to do daily life tasks such as writing, typing, eating, and dressing. In some cases, a tremor can even lead to disabilities.

What are the types of tremor?

There are several types of tremor, including:

• Essential tremor, sometimes called benign essential tremor or familial tremor. This is the most common type. It usually affects both your hands and arms while you are moving them. It can also affect your head, voice, or legs.
• Parkinsonian tremor, which is a common symptom in people who have Parkinson's disease. It usually affects one or both hands when they are at rest, but it can affect the chin, lips, face, and legs.
• Dystonic tremor, which happens in people who have dystonia. Dystonia is a movement disorder in which you have involuntary muscle contractions. The contractions cause you to have twisting and repetitive movements. It can affect any muscle in the body.

What causes tremor?

Generally, tremor is caused by a problem in the deep parts of the brain that control movements. For most types, the cause is unknown. Some types are inherited and run in families. There can also be other causes, such as:

• Neurologic disorders, including multiple sclerosis, Parkinson's disease, stroke, and traumatic brain injury
• Certain medicines, such as asthma medicines, chemotherapy, corticosteroids, and medicines used for certain psychiatric and neurological disorders
• Alcohol use disorder (AUD) or alcohol withdrawal
• Poisoning from certain toxic substances, including pesticides and heavy metals such as mercury and lead
• Hyperthyroidism (overactive thyroid)
• Liver or kidney failure
• Anxiety or panic
• Too much caffeine

Who is at risk for tremor?

Anyone can get tremor, but it is most common in middle-aged and older adults. For certain types of tremor, having a family history raises your risk of getting it.

What are the symptoms of tremor?

Symptoms of tremor may include:

• Rhythmic shaking in the hands, arms, head, legs, or torso
• Shaky voice
• Difficulty writing or drawing
• Problems holding and controlling utensils, such as a spoon

How is tremor diagnosed?

Your health care provider may use many tools to make a diagnosis:

• A medical history, which includes asking about your symptoms
• A physical exam, which includes checking:
  • Whether the tremor happens when the muscles are at rest or in action
  • The location of the tremor
  • How often you have the tremor and how strong it is
• A neurological exam, including checking for:
  • Problems with balance
  • Problems with speech
  • Increased muscle stiffness
• Blood or urine tests to look for the cause
• Imaging tests to help figure out if the cause is damage to your brain
• Tests that check your abilities to do daily tasks such as handwriting and holding a fork or cup
• An electromyogram, a test that measures involuntary muscle activity and how your muscles respond to nerve stimulation

What are the treatments for tremor?

There is no cure for most forms of tremor, but there are treatments to help manage symptoms. In some cases, the symptoms may be so mild that you do not need treatment.

Finding the right treatment depends on getting the right diagnosis of the cause. Tremor caused by another medical condition may get better or go away when you treat that condition. If your tremor is caused by a certain medicine, stopping that medicine usually makes the tremor go away.

Treatments for tremor can include:

• Medicines. There are different medicines for the specific types of tremor. Another option is Botox injections, which can treat several different types of tremor.
• Surgery may be used for severe cases that do not get better with medicines. The most common type is deep brain stimulation (DBS). DBS uses electrodes that are implanted in the brain. The electrodes send electrical pulses to the parts of the brain that are causing the tremor.
• Physical, speech-language, and occupational therapy, which may help to control tremor and deal with the daily challenges caused by the tremor.

If you find that caffeine and other stimulants trigger your tremors, it may be helpful to cut them from your diet.

NIH: National Institute of Neurological Disorders and Stroke