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Melanie asked...

Congenital Heart Disease

Hi, My sister aged 52 has recently been diagnosed with a hole in her heart. This was discovered after an attack of viral encephalitis. I am wondering what the chances are of the heart condition being hereditary and how I go about having my own heart - and that of my two children - checked. We are covered by corporate AXA PPP health cover.Thanks

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The answer

A hole in the heart is one of the types of Congenital Heart Disease that can occur in adults but these days is more commonly diagnosed in childhood thanks to ongoing medical diagnostic advancement and care management.

A hole in the heart is most likely to be where the septum of the heart fails to fuse between the left and right atriums or ventricles. Small holes can often close by themselves but, larger holes may need to closed by means of surgery.

Congenital heart disease as I indicated earlier, is often diagnosed these days whilst a baby is in utero or possibly in the early days following birth or childhood. Earlier diagnosis is possible due to offering of ultrasound scans during pregnancy which look for any developmental abnormalities.

Congenital heart disease is more commonly seen where there have been complications in pregnancy such as rubella and flu infection in the early weeks whilst the heart is developing, uncontrolled diabetes management, alcohol misuse and genetic conditions such as Down’s and Turner syndrome. These days it has also been discovered that the use of some medication such as Ibuprofen, Benzodiazepines and some acne medications can attribute to defects as well. Medications should always be checked that they are safe for use whilst pregnant or planning pregnancy.

Diagnosis later on in childhood development and adulthood usually occurs as a result of individuals becoming unwell and presenting with symptoms which can include failure to thrive, infection, shortness of breath, extreme tiredness, blueness to lips and skin and chest pain.

Diagnosis of any heart defect is usually confirmed by performing tests such as chest x-rays, ECGs and scans of the heart. Further procedures such as a cardiac catheterisation may also be considered if diagnostic tests show any concerns.

Treatment of the condition will depend on the severity of the condition and may range from taking medication to surgical procedures to remedy the defect.

In relation to accessing diagnostic tests for yourself and your children we would recommend seeing your GP to discuss your concerns. Your GP if he feels that there is a possibility of a genetic predisposition to congenital heart defects or that there may be heart defects already missed may well send you for further investigations such as the ones mentioned previously.

Further reading material which may be of use to you and answer your question more fully can be found on the following websites:


Heart research



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