Ventriculoseptal defect


Ventriculoseptal defect

Description, Causes and Risk Factors:

Abbreviation: VSD.

Ventriculoseptal defect is one of the commonest congenital malformations of the heart, accounting for up to 40% of all cardiac anomalies. Frequency of this defect varies with age at examination, since many small malformations present at birth close shortly afterwards; it is also dependent on sensitivity of the examination technique. Prevalence in newborn babies of up to 5% has been reported from screening with highly sensitive color Doppler echocardiography. Most are tiny muscular defects that disappear during the ?rst year of life.

Ventriculoseptal defect

Most forms of congenital heart disease, including ventriculoseptal defect, have multifactorial origins. An underlying inherited genetic predisposition could act synergistically with epigenetic factors, direct and indirect environmental causes, and purely stochastic e?ects to produce cardiac anomalies.

Environmental factors such as teratogens, maternal infections, and untreated maternal metabolic illnesses (e.g., phenylketonuria and pregestational diabetes) have been associated with ventriculoseptal defect.

Monogenic defects are, in some cases, clearly causative. Such defects have attracted much interest because their molecular characterization has facilitated identi?cation of important constituents of signaling pathways that govern cardiac development. Mutations in the transcription factors TBX5 and GATA4 have received particular attention. These factors are co-expressed in the heart and their interaction is vital for normal cardiac septation. TBX5 is expressed not only in the heart but also in the upper limb buds and eyes. A TBX5 polymorphism is also associated with ventriculoseptal defect (without limb abnormalities). Researchers have identi?ed GATA4 sequence variants in familial cases of septal defects (particularly atrial) and in some patients with sporadic ventriculoseptal defect.

In reports in which echocardiography was used in the diagnostic algorithm, a prevalence of up to 3.94 per 1000 patients has been recorded, which is greater than in previous work that relied on either clinical examination or post-mortem investigations.

Symptoms:

    Fatigue.

  • Sweating.

  • Rapid, heavy, and congested breathing.

  • Disinterest in feeding, or tiring while feeding.

  • Poor weight gain.

Diagnosis:

Ventriculoseptal defect often causes a heart murmur that your doctor can hear using a stethoscope. If your doctor hears a heart murmur or finds other signs or symptoms of a heart defect, he or she may request one or more of these tests:

    Chest X-ray. An X-ray image helps the doctor view the heart and lungs. An X-ray may identify conditions other than a heart defect that may explain symptoms.

  • Electrocardiogram (ECG). This test records the electrical activity of the heart through electrodes attached to the skin. This test helps diagnose heart defects or rhythm problems.

  • Echocardiogram. An echocardiogram uses sound waves to produce a video image of the heart. This image can help doctors see if you have a ventricular septal defect and if the heart is pumping properly. Echocardiography can also be done while a baby is still in the womb (fetal echocardiography).

  • Pulse oximetry. This painless test measures how well oxygen is reaching tissues. It helps determine whether oxygenated blood is mixing with deoxygenated blood, which can help diagnose the type of heart defect present. A small finger clip on the fingertip measures the amount of oxygen in the blood.

  • Cardiac catheterization (Cath Lab). In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at the groin or arm and guided through the blood vessels into the heart. Through catheterization, doctors can diagnose congenital heart defects and test the strength of the ventricles — the heart's pumping chambers — and the function of the heart valves.

Treatment:

In some cases the VSD will close over time and does not need treatment - it will need to be monitored to make sure it is diminishing in size and not affecting the child's health in any way. It is also important to ensure that there are not any other associated defects in the heart as your child grows older.

If the opening is large, open-heart surgery may be needed to close it and prevent serious problems. Usually a patch of fabric or pericardium (the normal lining around the outside of the heart) is sewn over the VSD to close it completely. Later this patch is covered by the normal heart lining tissue and becomes a permanent part of the heart. Some defects can be sewn closed without a patch. It may be possible to close some VSDs in the Cath Lab.

If the hole is near a valve, or there is any other problem in the heart, treatment can be more difficult, even if the VSD itself is quite small. It is not uncommon for a child to pick up an infection, such as a chest infection or infected wound, while undergoing treatment. And some children react badly to some kinds of medicines.

Your cardiologist will explain you about the risks and benefits of the procedure, which are quite common.

Most children are completely well, active, and gaining weight a few days after surgery. He or she will have a scar down the middle of the chest, and there may be small scars where drain tubes were used. These fade very rapidly in most children, but they will not go altogether.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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