How does Holt-Oram syndrome affect the heart?

What is Holt-Oram syndrome?

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals.

What is the most common congenital heart defect?

The most common type of heart defect is a ventricular septal defect (VSD).

Does Apert syndrome cause mental retardation?

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.

What is the most fatal heart defect?

Critical congenital heart defects (also called critical CHDs or critical congenital heart disease) are the most serious congenital heart defects. Babies with critical CHDs need surgery or other treatment within the first year of life. Without treatment, critical CHDs can cause serious health problems and death.

What is the quality of life for someone with Apert syndrome?

Life expectancy for an individual with Apert syndrome is normal; however, some of the health problems associated with the syndrome can lead to complicated disease and a premature death.

Who is most likely to get Apert?

Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Although parents of all ages can have a child with Apert syndrome, the risk is increased in older fathers.

Can Apert syndrome be detected before birth?

Individuals may also have testing for mutations in the FGFR2 gene, which can provide a genetic diagnosis of Apert syndrome. In some instances, features of Apert syndrome may be detected before birth. This would be done through prenatal 2D or 3D ultrasound or magnetic resonance imaging (MRI).

Are you born with Williams syndrome?

Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges.

What are the last signs of congestive heart failure?

The symptoms of end-stage congestive heart failure include dyspnea, chronic cough or wheezing, edema, nausea or lack of appetite, a high heart rate, and confusion or impaired thinking.

How do you know if you have a pre existing heart condition?

They may include:

  1. Trouble breathing, especially at night or when you’re not active.
  2. Not being able to do normal activities, because of weakness or severe tiredness (fatigue)
  3. Lightheadedness or fainting.
  4. Irregular heart rate (palpitations)
  5. Blue skin coloring because of low levels of oxygen in your blood (cyanosis)

How do you check for undiagnosed heart disease?

There are symptoms that might alert you to an undiagnosed heart problem. These include:

  1. Shortness of breath.
  2. Heart palpitations.
  3. Fainting spells.
  4. Abnormal heart rate.
  5. Abdominal bloating.
  6. Bloating or fluid in the lower legs that doesn’t resolve with elevation.
  7. Blue fingertips or toes after exertion.

Can an EKG detect a heart defect?

Electrocardiogram (ECG). This painless test records the electrical signals in your heart. An ECG can diagnose many heart problems, including irregular heartbeats and blocked arteries.

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