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A Quick Guide to Ectopia Cordis

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A Quick Guide to Ectopia Cordis

Ectopia Cordis refers to a medical condition where the heart is located outside or partially outside the thoracic cavity. This is a congenital malformation and is a rare genetic effect. Pediatric study over the world has confirmed that one baby out of 126,000 births has this malformation.

A Quick Guide to Ectopia Cordis

What is Ectopia Cordis?

When the baby is developing in the uterus, the chest wall formation is abnormal and it does not fuse together. This causes a hindrance in the development of the heart thereby exposing it outside the chest wall. In Greek, Ectopia means out of place and Cordis in Latin means heart. In complete Ectopia Cordis, the heart can be located anywhere outside thorax namely

  1. Neck
  2. Chest
  3. Abdomen

In partial Ectopia Cordis, the heart is located outside the chest wall with a protrusion through the split sternum.

What Causes Ectopia Cordis?

Here are a few causes of Ectopia Cordis:

    1. Ectopia Cordis occurs mainly due to genetic mutation.
    2. Intra-uterine drug exposure and rupture of fetal membranes or yolk sac are other causes of Ectopia Cordis.
    3. Pathologically, during embryonic development, if the midline mesoderm is not matured then ventricular body and wall formation fail to develop. In this condition, the pericardium, sternum or the skin fails to protect the heart and other organs surrounding the heart.

Symptoms of Ectopia Cordis

Common symptoms of Ectopia Cordis are:

  1. Breathing difficulties
  2. Low blood pressure
  3. Poor circulation
  4. Electrolyte imbalance and low pH

Complications of Ectopia Cordis

There are many complications of Ectopia Cordis as it comes with a variety of cardiac and non-cardiac malfunctions. Ectopia Cordis can also cause other intracardiac defects namely

  • Atrial septal defects
  • Ventricular septal defects
  • Tricuspid atresia

Most children with partial Ectopia Cordis have other medical problems and complications where other organs are also not developed properly like:

  • Cleft palate and lips
  • Skeletal deformities
  • Abdominal abnormalities
  • Gastrointestinal defects
  • Meningocele (a spinal fluid sac protrudes from spinal column)
  • Encephalocele (spinal fluid, brain membrane, and brain tissues protrude from skull)

How to Diagnose Ectopia Cordis

The heart is one of the first organs that is formed during organogenesis in the fetus. The heart begins to beat steadily after 8 weeks of pregnancy and rib cage forms to enclose the heart within 12 weeks. Hence, the first ultrasound scan can reveal Ectopia Cordis to the doctor. Very rarely a case of Ectopia Cordis is detected during childbirth.

If the fetus affected with Ectopia Cordis survives till birth, then surgery can be performed to cover the heart with a synthetic material and place it back in the thoracic cavity. Additional surgeries are required to repair other intra-cardiac defects. Once detected in ultrasound, doctors should plan for treatment immediately after birth. The success rate of the surgery is 50% as chances of survival of the baby are less.

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