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Kabuki Syndrome and Congenital Heart Defects


Kabuki Syndrome (KS) is a rare disease characterized by multiple physical malformations and mental deficiencies. It is often associated with congenital heart defects, which are present in approximately 70% of patients with KS.

KS, also known as Nikawa-Kuroki syndrome, gets its name from the distinctive facial features, which make patients appear to be wearing makeup used by Japanese Kabuki actors.

Causes

KS is a genetic disorder. As a child develops in the womb, specific genes mutate, leading to the development of the signs and symptoms characteristic of the condition.

Symptoms

Symptoms and severity vary from person to person with KS. Some are congenital (an infant is born with them), and some develop over time. In addition to the hallmark facial features, some common symptoms include delayed growth, seizures, mild to moderate intellectual disability, small head circumference, and feeding problems. For a full list of potential symptoms, see the Rare Disease Database entry on Kabuki Syndrome.

Talk to your pediatrician about your child's specific symptoms, their treatments, and the complications that may arise.

Diagnosis

Doctors can diagnose KS with a genetic test.

Doctors usually diagnose KS based on symptoms as they develop. The symptoms of KS can be vague in infants and small children, and congenital heart defects are frequently the first and most severe symptom. These can sometimes be seen in prenatal tests or detected early in life. To diagnose these heart defects, your doctor may order tests such as:

  • Electrocardiogram
  • Chest x-ray
  • CT scan
  • Cardiac catheterization
  • Angiography

Common Associated Heart Defects

Certain congenital heart defects are common in children with KS. Most of these defects affect the left side of the heart. The two most common are coarctation of the aorta and septal defects:

  • Coarctation of the aorta: The primary artery bringing blood to the body is narrow, which prevents adequate blood from reaching the body.
  • Septal defects: Holes in the wall separating the two sides of the heart, allow oxygen-rich blood from the lungs and oxygen-depleted blood from the body to mix. Blood with very little oxygen circulates out to the body.

Other heart conditions that are associated with KS include:

  • Hypoplastic left heart syndrome: The left side of the heart is very small, and the heart has difficulty pumping blood out to the body.
  • Aortic valve malformations: The heart valve between the heart and the artery that brings blood to the body is very small, tight, or not shaped correctly. The blood backs up, and the heart must work harder to pump blood out to the body.
  • Mitral valve malformations: The valve between the two chambers on the left side of the heart is very small, tight, or not shaped correctly. Blood cannot flow as easily in the heart and gets backed up.
  • Conotruncal heart defects: The large arteries carrying blood to the lungs and body do not form correctly. The body does not receive the blood and oxygen it needs, and the heart must work harder to circulate blood.
  • Hypertrophic cardiomyopathy: The heart muscle is thick, making it difficult for the heart to pump blood to the lungs and body.
  • Aortic root dilation: The first part of the artery going out to the body grows larger than usual.

While most children with KS are born with a congenital heart defect, not every KS patient will have a congenital heart defect. In addition, only a tiny percentage of children with a congenital heart defect have KS.

Treatment

There is no cure for KS. Doctors can only treat the symptoms as they arise.

Children born with KS who have heart defects need to be treated by a pediatric cardiologist. Approximately 20% of children will need surgery to correct the malformed heart. The type of surgeries or procedures your child needs will depend on the type and severity of the heart defect.

Your child may also need to take medicine to prevent more damage to the heart and help it function more efficiently. They will need to follow up with a cardiologist regularly throughout their life.

Outcome

The long-term survival of someone with KS is at least partly determined by whether the child has a heart defect and how severe it is.

Many heart conditions affecting the left side of the heart need surgery to repair them very soon after birth, hypoplastic left heart syndrome was the most significant risk factor for premature death in children with KS.

Key takeaways

Kabuki syndrome is a genetic disease affecting many body systems and organs. Treatments depend on the specific malformations that occur and how severe they become.

Congenital heart defects are often the first symptom to appear and usually the most critical . Some infants and children will need surgery to correct the heart defect, sometimes very soon after birth.

Talk to your child's pediatric cardiologist about your child's specific heart condition and what treatments are suitable for your child.

Resources:

GeneReviews.

American Heart Association. Hypertrophic Cardiomyopathy (HCM).

NORD. Kabuki Syndrome.

Weerakkody, Y. (2022). Aortic root dilation.

Yapp, J. (2022). Conotruncal cardiac anomalies.

Korean Journal of Pediatrics. The Strong Association of Left-side Heart Anomalies with Kabuki Syndrome.

Cardiology Journal. Congenital heart defects in Kabuki syndrome.

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