TSC and the heart. Contents
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1 TSC and the heart
2 Contents TSC and the heart P3 Introduction P4 Diagnosis of heart tumours and blood vessel abnormalities P4 Rhabdomyomas (heart tumours) P5 Abnormalities of blood vessels P6 Heart monitoring for TSC patients P8 Information and support P10 Contact us P2
3 Introduction About half of babies with tuberous sclerosis complex (TSC) are born with heart tumours (cardiac rhabdomyomas). These tumours are at their largest at the time of the baby s birth and get smaller over time, eventually disappearing. Rhabdomyomas are nonmalignant (non-cancerous) and they do not spread through the body. They can occur anywhere in the heart and some babies may have more than one tumour at birth. P3
4 Diagnosis of heart tumours and blood vessel abnormalities TSC may lead to abnormalities of the heart and blood vessels from birth, which can be seen using ultrasound. This is a noninvasive, safe and painless test that allows the cardiologist (heart specialist) to view the structures of the heart and blood vessels on a screen. It is sometimes the case that the abnormalities can be detected before birth using ultrasound (possible from 18 weeks onwards). For this reason, in pregnancies where there is a family history of TSC, ultrasound of the foetal (unborn baby s) heart may be offered as a screening test. Rhabdomyomas (heart tumour) The symptoms associated with rhabdomyomas vary from person to person and depend on the size, number and location of the tumours within the person s heart. Most newborns and infants with rhabdomyomas do not have any symptoms at all. If a baby has a large tumour in one of the four chambers of the heart at birth, there is the possibility that it could obstruct the forward flow of blood, meaning that the heart is unable to pump enough oxygenated blood around the body. This can lead to cyanosis (blue discolouration of the skin and lips). If the tumour is so large that it may soon be life threatening, removing part or whole of the tumour may be an option. P4
5 However, even when large tumours are causing problems, the cardiologist may not recommend their removal. This is because the problems are likely to lessen and then improve as the child grows and the tumour shrinks. In about one in five patients the tumour is located close to the heart s electrical conduction system. This can result in abnormalities of heart rhythm that could cause the heart to beat abnormally fast or abnormally slow. These patients may experience palpitations, chest pain or fainting. If tumours are causing problems with heart rate the cardiologist may recommend that the best option is to remove the tumour surgically. A few individuals will have long-term problems with heart rhythm that will need to be monitored throughout their lives. Some babies with TSC may have very small tumours (so small they could only be seen under a microscope) in the muscle fibres of their heart. As a result of this they may have a reduction in the strength of their heart muscle. Abnormalities of the blood vessels Although rare, some patients with TSC may have abnormalities of the blood vessels such as: Narrowing of the aorta (the artery through which oxygenated blood is pumped out to the body) Narrowing of the renal arteries (which take oxygenated blood to the kidneys) An aortic aneurysm (ballooning and weakening of the walls of the aorta) P5
6 Blood vessel abnormalities in TSC may be so mild as to cause no symptoms at all but may lead to hypertension (high blood pressure) in some individuals. Narrowing of the aorta can be detected by comparing the blood pressure in their arms to that in their legs (which is caused by the obstruction of blood flow to the lower limbs). Heart monitoring for TSC patients A baseline echocardiogram (heart scan) at diagnosis of TSC is recommended to establish whether the heart and blood vessels are affected especially for patients diagnosed when they are under three years of age. For some patients, of any age, magnetic resonance imaging (MRI) of the heart may be necessary if the ultrasound test proves insufficient or inconclusive. If heart tumours are found the need for and frequency of follow-up scans will depend on the size, number and location of the tumours. A baseline electrocardiogram (a test using sensors to detect the heart s electrical signals) is also recommended for all patients to find out whether there are any problems with heart rhythm. It is recommended that this test is repeated every one to three years as standard or until regression and the tumours have shrunk to the extent that they can no longer be seen on ultrasound. It is recommended that all TSC patients obtain an electrocardiogram every three to five years. P6
7 There is some evidence that older patients who no longer have heart tumours may develop abnormalities of heart rhythm. For this reason, it is recommended that all TSC patients obtain an electrocardiogram every three to five years. If problems are found it may be necessary to treat the abnormal rhythm. A healthy lifestyle, exercise, a good diet and avoidance of smoking are advisable for people with TSC to maximise the health of their heart and blood vessels. P7
8 Information and support The TSA is here to help and support you. The first thing to understand is that TSC is a very complex disease. TSC affects all individuals differently, so what you might read about one person and how TSC impacts his or her life may be quite different from how it impacts your life. Speak to your clinician or GP about any concerns or questions you have. Living with TSC can raise a number of challenges and uncertainties but much has been learnt about TSC over the last decade and research into the condition has never been so active. The TSA can help you access the accurate and reliable information that you need, as and when you need it. The TSA can liaise with, and signpost you to, specialist services and help raise awareness and understanding of TSC among professionals. Please get it touch with the TSA at or by calling P8
9 TSA Advisers We have a team of TSA Advisers across the UK. Examples of the ways in which we can help: Supporting people attending meetings with professionals, school review meetings, health care meetings, complaints processes and specialist hospital visits Helping individuals liaising with social services and health care professionals Liaising on your behalf with our professional medical advisers regarding complex TSC queries Providing TSC awareness sessions to staff in residential homes, supported living accommodation, schools and to professional staff such as nurses, where appropriate Helping to set up local regional support groups Holding events and gatherings to exchange information, share experiences and meet others in similar situations For more information please contact: support@tuberous-sclerosis.org Find your regional TSA Adviser here: The Tuberous Sclerosis Association To provide hope for today and a cure for tomorrow P9
10 References A list of TSC scientific references, TSC clinics and TSC professional advisers is available on request. We value your feedback Please help us improve the information we offer by sharing your comments on this publication. Please information@tuberous-sclerosis.org or write to us at the address below. Supporting the TSA The TSA provides this information free of charge but if you would like to help cover the cost please visit the fundraising section of our website to make a donation: Or send a cheque or postal order to: Tuberous Sclerosis Association, CAN Mezzanine, Loman Street, Southwark, London SE1 0EH. Contact Us If you would like support or further information about any aspect of TSC, please contact us at: Tuberous Sclerosis Association, CAN Mezzanine, Loman Street, Southwark, London SE1 0EH By admin@tuberous-sclerosis.org On our website: By telephone: Join the TSC community online: P10
11 Notes Produced June Review date June 2019 P11
12 About the TSA We re the only UK charity dedicated to supporting people affected by TSC. Our aim is to ensure that everyone affected by TSC has the care and support they need. TSCampaign: Our commitment to raising awareness and driving forward positive change TSCare: Our commitment to enhancing quality of life for all people affected by TSC TSCure: Our commitment to research Tel: Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in England and Wales No English Registered Charity Number Scottish Registered Charity No. SC Registered Office: CAN Mezzanine, Loman Street London SE1 0EH Disclaimer: We have made every effort to ensure that information in this publication is correct at the time of going to print. We do not accept liability for any errors or omissions, and policy and practice may change.
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