A mutation in one of two genes - TSC1 or TSC2 - is the cause of the development of a condition called tuberous sclerosis. It is a disease whose development depends mainly on genetics and is inherited in an autosomal dominant manner. The incidence of this syndrome is estimated to be 1:10 000 in the adult population and 1:6 800 in the paediatric population. The phenotypic diversity that tuberous sclerosis can present is extremely wide, as highlighted by the guidelines created by many associations relating to the diagnosis and treatment of people suspected of having or suffering from tuberous sclerosis.
From a cardiological point of view, the appearance of very early manifestations of the disease is very likely and an appropriate, accurate diagnosis is extremely important. The disease can manifest itself in the form of rhabdomyoma-type heart tumours and cause conduction abnormalities in the heart, which in turn can appear in adults not previously affected by cardiac problems. In addition to heart tumours, other less common abnormalities such as coarctation of the aorta, thoracic or abdominal aortic aneurysm, rhabdomyositis (a rare form of cardiomyopathy) and hypertension may also be seen.

What is tuberous sclerosis?

SG, Bourneville disease - tuberous sclerosis complex, TSC. All these terms refer to tuberous sclerosis, which at the very beginning was considered a neurological disease. The early 20th century brought the triad of symptoms described by Vogt, which included epilepsy, impaired mental development and a characteristic facial lesion called Pringle's nevus. Today, medical knowledge allows us to conclude that only about 30 per cent of people with tuberous sclerosis have all three symptoms mentioned above, while 6 per cent of patients, have none of these symptoms. It was not until 1979 that Gomez described the overall clinical spectrum of SG, while at the same time setting out diagnostic criteria that came in place of Vogt's traidy.

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Undoubtedly, the earliest picked out symptom is rhabdomyoma-type heart tumours, which are also a major diagnostic criterion. Hence, a cardiological consultation is crucial in the treatment of SG, as cardiac lesions, and cardiac complications of all kinds, are the most common cause of death for SG sufferers.

However, the evaluation of the diagnostic criteria was still ongoing. In 2013, new diagnostic criteria were published, where clinical symptoms continued to form the basis for diagnosis. Over time, clinical observations were also joined by genetic testing, which was reduced from three to two levels. Currently, genetic testing is the basis for the diagnosis of SG.

Practice guidelines for cardiologists

In 2013, new criteria were published on the basis of which the diagnosis of SG is made. In addition, guidelines and recommendations were also developed to guide physicians in the context of therapeutic management and surveillance. These recommendations are particularly relevant for cardiologists, given the very high phenotypic diversity of SG. From a cardiological point of view, cardiac symptoms may appear earliest of all disease manifestations, namely as early as the 15th week of fetal life, when tumours can be observed in the heart. Another type of manifestation of cardiac problems, are conduction disturbances in the heart, which the person has not experienced before. A cardiology consultation is therefore recommended in all age groups of patients diagnosed with SG. Echocardiography is also very important, especially in the fetal period in women who have SG and are pregnant at the time - this allows early detection of tumours in the heart. If abnormalities are found, the huge role of the paediatric cardiologist is emphasised, whose task is crucial here - from making an accurate diagnosis to redirecting the mother to appropriate specialists (such as a neurologist or geneticist).