Author: BCI

What are the specific skills of a geneticist?

We can identify individuals with inherited cancer syndromes whose blood relatives are enrolled in an intensive prevention and risk reduction program before the cancer develops – this group includes many families with familial breast and ovarian cancer, and familial nonpolyposis colon cancer. We can identify families with familial hypercholesterolaemia and initiate specific contemporary treatment simply by the presence of cholesterol deposits on the skin of one family member. We work with families at increased risk of sudden fatal cardiovascular events and have programs in place for follow-up and risk reduction. We identify the cause of physical and intellectual developmental delays in children based solely on abnormalities in clinical laboratory micronutrient test results. We identify the genetic defect in the family, apply targeted treatment and support family planning. We develop a detailed clinical follow-up plan for children with specific genetic syndromes. We often become friends with the families we care for because we have a long-standing relationship with them – they have chosen us to walk this path together. In short: a genetic doctor must possess multidisciplinary medical knowledge at the same time as in-depth specific expertise and, last but not least, purely human qualities such as empathy, respect, patience and tact.

How does genetic counseling work?

Genetic counseling is a specific type of conversation between a patient and a clinical geneticist. This specialist may have a different educational background, but in most European countries, as well as according to the law in Bulgaria, he or she must be a doctor with a specialty in medical genetics.

When genetic testing needs to be done, in most cases you will also be referred for a genetic consultation, during which the doctor will explain what the test is and what the genetic nature of the disease is. He or she will explain the benefits and risks of getting tested, discuss with you the possible consequences and the possible choice of a particular type of treatment – medical, surgical or otherwise. He will point out with specific data what your risk is compared to other people in the population of developing a particular condition and present the latest guidelines for prevention, early diagnosis or risk reduction. In some cases, the result could also be of great importance to relatives when it comes to identifying genetic variants with a significant effect on health. The specialist will discuss with you the likelihood of genetic variants being passed on to offspring and what consequences this could have for you and your partner. The counselor makes recommendations for the treating physician and can help the patient connect with other patients with the same problem.

What kind of patients seek genetic counseling?

Excluding some, few, specific areas of medicine, such as trauma medicine, there is almost no specialty for which a geneticist is not needed. Our work covers areas such as cancer, inherited and congenital diseases, and prenatal diagnosis. In a larger hospital with a genetic consultation, such as ours, it happens that within one day the geneticist meets cancer patients with sporadic and hereditary forms of cancer (breast cancer, colon cancer, rare hereditary cancer predispositions) or their relatives; families with children with congenital malformative conditions, metabolic disorders, global developmental impairment, delayed physical and/or motor development, microdeletion syndromes; with pregnant women with abnormal pregnancies or expectant parents worried about hereditary diseases in their lineage; families with reproductive disabilities; patients with neurological diseases (hereditary forms of epilepsy, hereditary neuromuscular degenerative diseases) or cardiovascular diseases (hereditary cardiomyopathies, hereditary aortopathy); patients with hereditary predisposition to venous thromboses; hereditary deafness and many others. Our patients include infants, children, the elderly, pregnant women, people with genetic or cancer disease, or troubled healthy relatives. These are rarely extremely rare diseases, with only a few cases described in the world.

What is the point of genetic testing?

A large part of genetic testing is aimed at making an accurate diagnosis. When the diagnosis is unequivocally proven, the risk for one or other complication or the course of the disease is often known, the patient and his or her doctor know what to expect and what the risk is – this is the prognostic effect of genetic testing. In an increasing number of cases and for an increasing number of conditions, genetic analysis plays a key role in therapeutic and clinical decision-making. The presence of a well-defined pathogenic genetic variant may be associated with a specific advanced therapy – this is the predictive side of genetic testing. This approach is at the heart of so-called personalized medicine – we treat patients not (only) generally and by symptoms, but also according to their unique and specific situation. Of course, not all genetic diseases that can be diagnosed also have a cure or can eliminate the cause of the disease. But when we know the exact diagnosis and what symptoms are expected, we can greatly improve the quality and length of life through symptomatic, preventive and supportive measures. I know from experience that there have been cases in which parents of a child with severe physical and intellectual impairment, who have searched for years for the cause of the disease, feel tremendous relief when genetic analysis finally answers their question. Even if this does not change the child’s situation or allow for the introduction of a new treatment, it is important for parents to understand the biology of things. In some cases, this is crucial and they can be dissuaded from having another child because they already know and can prevent the cause of what happened.

What is the future of medical genetics?

The medical genetics laboratory with genetic counseling in ‘Heart and Brain’ Pleven started its construction in 2020 and started working slowly but tirelessly in the vortex of the pandemic, in 2021. I am grateful for the opportunity to put and materialize all my knowledge and heart into the development of the laboratory – the team, the equipment, the working style and the standard in quality. I am fortunate to work with talented young professionals – biologists and physicians who want to pursue a career in genetics. I hope to be able to expand our team so that each major area in human genetics – oncology, syndromology, late-onset familial diseases – is covered by a dedicated team of biologist and physician who can develop their expertise in the field. There is a shortage of such experts in our country, but also worldwide. I believe that in parallel with the development of such a specialist school, we will build up over time until we provide our patients with a near full range of diagnostic tests, either through our own expertise and facilities, or by working with partners, which is generally more realistic and standard around the world. However, for this to happen, it is necessary that these analyses are available to all. That is why, together with colleagues, supporters and patients, we regularly provide government institutions with information about the real situation of people with genetic diseases in Bulgaria and seek the possibility to have these analyses covered by insurance.

A major trend in health care worldwide is prevention and early diagnosis, a large part of which is based on genetic testing. Although in Bulgaria we are still far from providing access to such tests for all insured persons, in our hospital we are developing and offering within multidisciplinary teams the possibility of monitoring target groups of patients for specific conditions. For example, together with the clinics of surgery, oncology, radiotherapy, psychology and others, we are developing a plan for the early diagnosis and prevention of breast cancer, in particular in families with a familial form of the disease, also covering healthy relatives at increased risk of developing cancer. The long-term effect of such measures is one of the strengths of our specialty.

In the hospital ‘Heart and Brain’ in Pleven have been performed 14 robotic abdominal surgeries of medium and high complexity in just one month. This is reported by the hospital, reporting a successful start for the robotic abdominal surgery team consisting of Dr. Emil Filippov, Dr. Tsvetomir Ivanov, Dr. Dimitar Georgiev from the clinic of surgery. Prior to this, the team underwent intensive training in robotic surgery in leading centers in Europe.

“For the team and for the hospital this one month was exceptional. I am happy that we earned the great trust of our patients and managed to help in the best possible way,” said Dr. Ivanov. He stressed that the da Vinci system is an innovative method of minimally invasive surgery that enables extremely complex operations with the lowest levels of trauma.

In early March, the hospital announced that a certified robotic abdominal surgery team began working with the innovative da Vinci system. The facility has a contract with the National Health Insurance Fund to reimburse robotic surgeries for oncological diseases and interventions with the da Vinci system are performed on a clinical pathway.

A multidisciplinary team from the clinics of cardiology and vascular surgery of the ‘Heart and Brain’ Center of Clinical Excellence in Pleven, performed a unique procedure for the country for the placement of a resynchronizing pacemaker in a patient in whom surgical access by the classical route is impossible. The system was implanted through the left femoral vein (of the leg) instead of through the chest veins as in the standard procedure. The method has been applied only a few times worldwide and never before in Bulgaria, said cardiologist Dr Nikolay Petrov.

The procedure was carried out on a 65-year-old patient with lung cancer squeezing the chest veins to the point where the device could not be implanted. The man was admitted to the cardiology clinic with extremely slow heart rate and severely reduced pumping function of the left ventricle.

“In view of the lack of a standard medical approach to address the patient’s slow heart rate, we determined that a workable solution was to implant a pacemaker. There were two possible options for this – an innovative procedure where the implantation would be done through the femoral vein, and the second option was cardiac surgery where the electrodes would be implanted on the heart. Due to the patient’s severe general condition and his co-morbidities, we judged that general anaesthesia and cardiac surgery would be high risk,” Dr Petrov explained the details of the case.

Dr. Nikolay Petrov and Dr. Georgi Voynov managed to implant a resynchronizing pacemaker by inserting the three electrodes through the patient’s left femoral vein. A challenge in the procedure is the use of consumables and devices designed and adapted for implantation by a classical method – through the chest veins. The complex intervention lasted nearly two hours.

“The fact that no one in Bulgaria has experience with such a procedure did not prevent our team from making the only right decision in this case. I dare to say that in ‘Heart and Brain’, Pleven we have the knowledge, experience and high-tech capabilities to apply innovative procedures and surgeries that have the best effect and with the least risk for patients”, Dr. Petrov is adamant.

The team of doctors has great clinical and research experience gained in leading clinics in the country and abroad

A few days ago, a 79-year-old man was admitted to the urology clinic at Heart and Brain Hospital Burgas. He had long-standing complaints of pain in the left lumbar region and the presence of blood in the urine. Imaging studies were immediately performed, after which a scan revealed hydronephrosis, with no evidence of a concrement (stones) in the ureter.

The patient had critically low haemoglobin and marked consumptive syndrome (weight loss). After performing a repeat imaging study – scanner with contrast – with no apparent cause of obstruction of the left ureter and viscous retention of urine in the left kidney, the specialists appointed ureteroscopy, which revealed complete blockage of the ureter by a solid formation. After a biopsy was taken, the histological result showed a transitional cell carcinoma.

Dr. Toni Statelov and his team perform a laparoscopic intervention to remove the kidney and ureter down to bladder level. The patient was discharged in excellent health after a short postoperative stay

The Department of Urology performs highly specialised diagnostic and surgical work-up of diseases of the kidney, ureters, bladder, prostate, penis and testes. It is equipped with latest generation surgical equipment to apply the most sparing and precise minimally invasive surgical techniques. Intraoperative ultrasonographic and radiographic monitoring is routinely applied when indicated.

The team of doctors has extensive clinical and research experience gained in leading clinics in the country and abroad. All doctors are engaged in research activities, teaching activities are also carried out

Since January 2022, Dr. Statelov is the head of the Urology Clinic in ‘Heart and Brain’ Burgas.

– Dr. Statelov, how did you come to urology as a specialty?

– I have always had an interest in surgical specialties, and urology uses mainly surgical methods, although we also apply conservative treatment in certain circumstances. Besides, the specialty is very modern, new devices are being introduced all the time. Urologists were among the first to use laser systems, laparoscopic methods and robotic treatment. This combination is very attractive to me because I believe in modern, bloodless treatment. I am happy to be part of the team of ‘Heart and Brain’ Burgas, where I can confidently say – every doctor would dream of working. The hospital has excellent specialists and equipment.

– Dr. Statelov, what are the “signal lights” that we should not ignore when we talk about urological diseases.

– Definitely blood in the urine, especially when present without additional symptomatology – alerts to a problem. The condition requires immediate consultation with a urologist. The symptom can be due to several causes, but we recommend patients not to make their diagnosis only on the basis of information provided by the Internet. Urine turns red in the presence of more than 1ml of blood in 1l of urine.

Bladder cancer is in the top five most common cancers – after prostate, lung and colon cancer. Haematuria (the presence of red blood cells in the urine) in this case is painless and requires urgent referral to a specialist. Bleeding is the only symptom of this type of cancer, which most often affects men but also occurs in women. Bladder tumors in over 95% of cases are malignant and very often recur. If detected at an early stage, they can be successfully treated by transurethral (‘bloodless’, through the urinary canal) surgery without having to remove the bladder.

The key to successful treatment of bladder cancer is having an experienced and highly skilled team of medical professionals and having modern equipment to detect it at an early stage. We at ‘Heart and Brain’ Burgas pride ourselves on both of these factors.

Within the first hours of the start of the work, the team of the high-tech neonatal intensive care unit of ‘Mama and I’ Pleven went to Sevlievo Hospital with a specialized neonatal ambulance to take a newborn in critical condition. The baby had severe polyorgan failure and required complex intensive therapy. The doctors from ‘Mama and I’ Pleven provided specialized care already during the transport. Thanks to the experienced specialists and state-of-the-art equipment, all modern treatment methods were applied for several days and the newborn was stabilized. The paediatricians carried out an “exchange blood transfusion”, changing the baby’s blood twice with blood from a suitable donor.

Dr. Andrei Hristov added: “Today I feel fine, the child is already extubated and is breathing calmly. It is out of danger, it is fed. I would like to thank my colleagues, the midwives and the hospital management who spared no effort and brought things to a successful end. I am happy that the parents trusted us!”

According to the WHO, over the past 20 years cardiovascular disease, in particular ischaemic heart disease, has continued to be the leading cause of death worldwide. According to the NSI for 2021, more than half of deaths in Bulgaria are caused by diseases of the circulatory organs. The recorded figures in our country (54%) are far higher than the average cardiovascular mortality rate across Europe (45%) and in the EU (37%).

World-renowned specialist in robot-assisted thoracic surgery, Prof. Diego Gonzalez Rivas: “You have a great future because you believe, invest and make mass, modern and crucial medicine.”

There are ten medical institutions with cardiac surgery clinics in the country, spread across the six most populated districts – Sofia (city), Sofia (region), Plovdiv, Varna, Burgas and Pleven. In 2022, according to NHIF data, a total of 5682 cardiac surgery interventions were performed under the four main clinical pathways in this specialty. 24% out of these, or nearly 1500 surgeries, were performed by the Heart and Brain teams in Pleven and Burgas, with the lowest hospital mortality rates recorded. One third of all major operations for complex malformations requiring particularly high expertise were performed in these two cardiac surgeries. In third place is another private hospital owned by a foreign investor in the capital.

Medicine is an applied science. Cardiac surgery is a great manifestation of this fact. The more it is practiced, the more surgeons improve and so patients choose the best ones who have saved the most lives.

The number of cardiac surgical procedures performed at Heart and Brain exceeds the standard 150 surgeries per year by a factor of ten, making them the leader and first choice of patients in the country. The knowledge and skills applied every day in the large number of successful, complex cardiac surgical interventions maintain and build on the expertise of the teams. It is no coincidence that just since the beginning of the year, two of the luminaries of cardiac surgery and thoracic minimally invasive surgery arrived from Switzerland and Spain to work with the specialists in Pleven and Burgas. Visits by world-renowned clinicians from the United States and Germany are forthcoming.

The world-famous Swiss cardiac surgeon Prof. Thierry Carrel: “It is a great miracle how, with these very low Bulgarian prices for your clinical pathways, you achieve European, even world quality in hospital care”.

Healthcare is a national, beyond party boundaries, existential and pan-European priority. Competition in healthcare and forward-looking strategic private investment are crucial drivers of innovation in the sector and a major reason for keeping young doctors in the country and attracting specialists from abroad. There are also excellent examples of good synergies between municipal, state and private hospitals in individual regions and can easily be achieved across the country. In this way, competition on quality and cooperation in functions and between levels of competence increases the efficiency and attractiveness of health services, significantly expands access to medical care and, most importantly, in the long term, reduces mortality and mitigates the demographic crisis.

Dr. Runkov’s team performs complex hybrid surgery in a specially equipped operating room with high-tech equipment.

Surgeons from the Vascular Surgery Clinic at ‘Heart and Brain’ Burgas performed a life-saving operation on a patient condemned to permanent disability after potential amputation of a limb in another medical facility.

The patient was admitted to another healthcare facility with complaints of pain, numbness and coldness in his right leg. He was referred for emergency surgery due to an identified thrombus in the leg. After surgery, the patient’s complaints continued with blistering on the foot and blackening of the toes. The opinion of the specialists was that the foot should be amputated. The patient refused amputation and sought help from Dr. Rumen Runkov, head of the vascular surgery clinic at ,Heart and Brain’ Burgas.

After hospitalization, multiple imaging studies were performed. The specialists found complete blockage of the femoral, popliteal and popliteal arteries. A decision was made to operate urgently. Dr. Runkov and his team performed a complex hybrid surgical intervention in a specially equipped operating room with high-tech equipment. A bypass of part of the femoral artery was placed, followed by stenting and balloon dilatation of the popliteal arteries, which fully restored blood supply to the right leg. The patient recovered rapidly after surgery, reporting resolution of pain. He was discharged after a short postoperative stay without complaints.

Read the full story here in Bulgarian.

Heart and Brain Center of Medical Excellence has started an information campaign and free consultations for patients with lung diseases. The occasion is the World Tuberculosis Day, which is traditionally celebrated on March 24, said Dr. Ilia Krachunov, Head of the Pulmonology Department at the hospital.

“I consider prevention and prophylaxis among the most important in patients with lung diseases. Conducting such information campaigns is extremely important and imperative, because in this way we raise public awareness. Tuberculosis is a chronic infectious disease that affects the respiratory system the most (over 90 per cent), but it can potentially affect every organ in the body. The disease is curable, especially if diagnosed early and treated promptly and correctly,” said Dr. Krachunov.