What is valvular heart disease?

Congenital mitral stenosis tends to appear in the first two years of life,

and congenital mitral insufficiency occurs where there is an excess of liquid in the lung which causes breathing difficulties.

Symptoms

Symptoms of congenital mitral stenosis are:

• Slow weight gain
• Tiredness
• Sweating when feeding

Congenital mitral insufficiency results in an increase in respiratory infections.

Who do congenital mitral valve anomalies affect?

Congenital mitral valve anomalies are rare and make up 0.5% of congenital heart defects.

Diagnosis

The disease is detected via echocardiogram, which provides information on the valve’s components. This technique also allows any other associated damage present to be seen.

Typical treatment

Congenital mitral stenosis requires different kinds of treatment depending on how severe it is.

• Mild damage and/or with few symptoms: conservative treatment initially with diuretics.
• Severe and/or a lot of symptoms: surgery is required.

Children who have undergone surgery can have a normal life but must be monitored by a cardiologist. However, as the child grows they may need a new procedure to adapt the valve to their growth until they reach adulthood.

In the case of congenital mitral insufficiency, surgical repair or replacement of the valve is necessary in patients with symptoms who have severe mitral insufficiency and do not respond to treatment.

Symptoms

The most common symptom is a protrusion of the eyeball out of its socket, known as “exophthalmos”. However it can also cause loss of vision due to compression of the optic nerve, double vision, pain and can limit the movement of the eyeball.

In some cases, tumours may be present in the eye socket for an entire lifetime with no symptoms.

Who do orbital tumours affect?

It is hard to know the exact number of people affected by orbital tumours as it is a rare kind of tumour that includes several variants.

Benign tumours are the most common; capillary haemangiomas and dermoid cysts in children, and cavernous haemangiomas in adults.

The most common malignant tumours in children include rhabdomyosarcoma, and in adults lymphoma cancers of the lacrimal gland and metastases. 

Diagnosis

Imaging studies (CT and nuclear magnetic resonance scans) allow precise location of the tumour, its size to be measured and certain biological characteristics to be known. This information, together with the patient's age and the speed of the tumour's growth, enables an initial assessment of whether or not it is malignant.

A definitive diagnosis is made after a biopsy of part or all of the tumour.

Typical treatment

In most cases, the main treatment is surgery to remove the tumour and therefore avoid the damage it may cause if left to grow within the eye socket by compressing or displacing the eyeball and other structures.

Modern-day orbital surgery techniques allow extraction of the tumour by making small incisions in areas that are hidden or not very visible. This enables faster postoperative recovery.

In the case of malignant tumours, different combinations of surgery, radiotherapy and chemotherapy are used. It should be noted that regular check ups are needed after treatment.

Where there are no symptoms, observation and monitoring of the speed of growth is usually sufficient.

Prevention

There are currently no preventative guidelines to reduce the risk of orbital tumours.

Where is rhabdomyosarcoma found?

Although mainly found in the head and neck, it may also occur in the genitourinary system such as the bladder and prostate in boys and the vagina or uterus in girls. It may also appear in other places such as the limbs (arms and legs) and, less commonly, in the abdomen and around the genitals and anus. Symptoms vary depending on the location of the tumour.

More than half of all soft tissue sarcoma found in children are rhabdomyosarcoma. Most children are diagnosed under nine years old, but this type of cancer can appear at any age.

Symptoms

Different symptoms are produced depending on where tumours are located.

• Head and neck: inflammation of the eye or a lump in the neck.
• Nose: nasal speech, blocked airways, difficulty breathing through the nose or swallowing.
• Bladder: urine contains blood or difficulty urinating.
• Vagina: vaginal bleeding or the appearance of a fleshy lump on the vulva.

Who is affected by rhabdomyosarcoma?

Malignant neoplasms are rare, but they are one of the most important causes of morbidity and mortality in this age group. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Rhabdomyosarcoma represents 6% of cancers in children meaning there are 60 new cases every year in Spain.

Diagnosis

The child’s doctor will perform a very careful examination and to reach a diagnosis the doctor will request several tests, which may include:

• X-ray
• Ultrasound scans
• CT scan
• Magnetic resonance imaging
• Bone scintigraphy
• Tumour biopsy
• Bone marrow aspiration

These tests will help to determine the size and location of the tumour and whether it has spread to any other part of the body.

Typical treatment

Rhabdomyosarcoma is a highly malignant type of tumour and must therefore be treated with a combination of therapies including surgery, chemotherapy and radiotherapy.

Each of these treatments is administered depending on the condition of the tumour and the age of the child.

Prevention

There are currently no known measures to help prevent this type of tumour.

The different types of resistant osteoarticular infections treated in the unit are:

Osteomyelitis/osteitis of haematogenous origin and which are resistant to medical and surgical treatment:  

• Symptoms may be acute or subacute and accompanied by pain. Many patients may have fever, tumefaction (swelling of part of the body due to inflammation, tumour or oedema) and erythema (reddening of the skin).
• Clinical suspicion aids diagnosis and sometimes diagnostic imaging may also be useful. The definitive diagnosis is made by isolating the pathogen microorganism.
• Treatment is debridement (surgery) and antibiotics to target the microorganism responsible.

Chronic osteomyelitis or  septic pseudoarthrosis derived from trauma or surgical interventions. Those resulting from open fractures, typically in the tibia, are often accompanied by loss of bone or the cutaneous covering. Exact incidence rates are not known, but the more exposed the bone has been, the higher the chances of chronic infection.

• Treatment depends on how badly affected the bone is. If  the total thickness of the bone is not compromised and its length can be maintained, debridement and packing with antibiotic-releasing dressing is sufficient. If it is severely affected and an entire segment of bone needs to be resectioned, or in cases of septic pseudoarthrosis, then bone reconstruction techniques have to be used.
• Distraction osteogenesis, usually performed via external monolateral or circular fixators, is the most common lower limb reconstruction technique in adults. Other techniques are induced membrane (Masquelet) and microsurgery techniques such as vascularized peroneal reconstruction. 

Periprosthetic infections. This type of infection occurs in 1-3% of primary arthroplasty procedures. In some cases, the only obvious symptom may be pain. The presence of a fistula or the isolation of a pathogen microorganism in different samples is used to confirm diagnosis. The most common treatment is to change the prosthesis in two separate procedures.

• During the first surgery the prosthesis is removed, the entire joint cleaned and a spacer with antibiotic is fitted. The patient is treated with antibiotics for a few weeks.
• Following this, the new prosthesis is fitted during the second surgery. Despite this, infection reappears in 10-15% of cases. Our unit treats this kind of prosthesis-related resistant infections from all over the country, which is why we are the leading centre in the National Healthcare System (CSUR).

Severe treatment-resistant diseases of the soft tissue (necrotizing fasciitis, gangrene). These are extremely unusual lesions and when do they appear they are often fatal. Excessive localized pain may be the only initial symptom, making it very difficult to diagnose at this stage. When diagnosed, aggressive treatment with antibiotics and surgical debridement can have an impact on survival and the need for amputation.  

Prevention

Patient-related factors (control of additional diseases or disorders) are very important in the prevention of osteoarticular infection, as are those related to surgery (antibiotic prophylaxis), the presence of implants, and tissue condition (bone and cutaneous covering) amongst others.

This type of infection requires a multidisciplinary team as treatment is very complex.

Symptoms

Children with this heart condition will have the following symptoms:

• A tendency towards desaturation (80% to 90%), depending on the presence of patent ductus arteriosus or the degree of obstruction in the lung.
• Severe stenosis, close to pulmonary atresia
• Cyanotic episodes which correspond with infundibular spasms that decrease lung flow, and which are relieved if the sufferer assumes a squatting position.

Who is affected by Tetralogy of Fallot?

Tetralogy of Fallot makes up 10% of all congenital heart disorders and is considered the most common cyanotic heart disease. There are around 400 cases for every million births.

Diagnosis

Diagnosis is confirmed via 2D echocardiogram.

Typical treatment

Repair is carried out around six months old. If the baby suffers a episode before the defect has been corrected, treatment is started in the form of beta blockers to reduce lung spasms.

If very severe cyanotic episodes persist in babies under six months despite this treatment, then palliative surgery needs to be performed to take blood to the lungs. This surgery consists of making a connection between a systemic artery and the pulmonary arteries (a systemic-pulmonary fistula).

The definitive corrective surgery involves closing the ventricular septal defect with a patch and widening the outlet from the right ventricle.

In cases of severe pulmonary insufficiency there is progressive dilatation of the right ventricle in the long term. If this becomes excessive, it is necessary to replace the valve. Risk of lung valve replacement is around 20% after 25 years.

Prevention

Unfortunately, there are currently no measures that can be taken to prevent this heart condition. 

What are inherited bone marrow failure syndromes?

Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system,  and others. They may also affect the area around the bone marrow.

Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.

These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.

Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This  treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.

A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.

Symptoms

The first symptoms are related to a lack of blood cell production:

• anaemia: which results in a pale complexion, tiredness and low mood.
• neutropenia: which can give rise to fever and infections.
• thrombocytopenia: resulting in bleeding in the skin in the form of haematoma and petechiae, or occasionally bleeding of the mucous membranes or internal organs.

There are also signs related to malformations such as:

• small stature
• marks on the skin
• bone deformities in the hands and arms

Who is affected by inherited bone marrow failure syndromes?

Estimated incidence rates of the different syndromes are:

• Fanconi anaemia 1 case for every 160,000-200,000 births per year
• Severe congenital neutropenia: 1 case for every 250,000 births per year
• Diamond-Shwachman syndrome 1 case for every 250,000 births per year
• Diamond-Blackfan anaemia: 1 case for every 160,000-200,000 births per year
• There is no data available for dyskeratosis congenita amegakaryocytic thrombocytopenia.

Diagnosis

The usual tests to detect inherited bone marrow failure are:

• Haemogram
• Bone marrow aspiration
• Bone marrow biopsy
• Chromosome fragility test
• Genetic testing
• Molecular diagnostics

Typical treatment

The following methods are used to treat these pathologies:

• Stem cell transplant
• Blood transfusions
• Androgens
• Cancer treatment
• Oncological surgery
• Orthopaedic surgery

Prevention

To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.  

What is the Zika virus?

It is disease lasting a short time that can be overcome without complications or the need for admission to hospital. However, there is a relationship between this infection and some neurological disorders. In addition, pregnant women who are infected may give birth to babies with microcephaly.

Symptoms 

The incubation period in humans is 3-12 days, up to 15 maximum. Although on many occasions there are no symptoms, when there are the disease is characterised by:

• Fever
• Skin eruptions
• Joint pain
• Conjunctivitis
• Headache
• Muscle pain
• Generally feeling unwell
• Tiredness

Who is affected by Zika?

Since 2015, 71 countries have declared transmission of the Zika virus via mosquitoes. In addition, 13 more have stated that the disease has arrived by other means, generally through sexual contact.

In Europe, most cases have been imported from countries where it is endemic, mainly from Latin America but also from South East Asia. In Catalonia in December 2016, there were 150 registered infections, of which 32 were pregnant women.   

Diagnosis

Between the first seven to ten days of the disease, diagnosis is made using molecular biology techniques (RT-PCR) in blood and urine to detect the virus.

After this period, Zika disappears from the blood and is detected through antibodies in the serum.

Typical treatment

There is no specific treatment for this disease. Symptoms generally disappear between three and seven days after infection. They are therefore lessened with analgesics and antipyretics.

Prevention

There is currently no vaccine for this virus. For this reason, prevention is based on avoiding mosquito bites in countries where it is endemic, as well as using protection during sexual intercourse.

In the case of Catalonia, the risk is associated with the arrival of travellers from countries where it is endemic. Here there is a screening programme for pregnant women and their partners; they are a sensitive group as the virus may be passed to the foetus. 

This is a rare congenital heart defect characterised by no connection between the right ventricle and the pulmonary arteries. It is an extreme type of Tetralogy of Fallot in which blood enters the lungs to be oxygenated by bypassing the heart.

Blood can reach the lungs via the pulmonary arteries themselves, which are not connected to the heart, or via the collateral arteries, which originate from the thoracic aorta and directly supply the lung. There are significant anatomical differences between vessels which must be studied in each individual child.

This condition is very heterogeneous, which creates the variability seen in the pulmonary arteries. Two groups can be distinguished:

• Good sized pulmonary arteries with pulmonary flow connected to the ductus arteriosus.
• Hypoplastic pulmonary arteries with collateral arteries, in which pulmonary circulation is mixed.
• Absence of pulmonary arteries with pulmonary circulation exclusively through the collateral arteries.

The prognosis of this disease depends on the growth of the pulmonary arteries to be able to surgically repair the condition.

Who is affected by pulmonary atresia with ventricular septal defect?

It is a rare congenital heart condition which makes up 1-2% of all congenital heart defects.

Diagnosis

In most cases, diagnosis is via foetal echocardiogram. This ultrasound will show the lack of connection between the heart and the pulmonary arteries, as well as the presence of VSD. Through this test the size and position of the pulmonary arteries can also be measured.

When a child is born, it has a certain quantity of oxygen, known as “saturation”, in its blood which is around 80-90% of the normal level, although this is enough for the child to develop normally. 

Symptoms

The first symptoms are sudden onset of fever, muscle pain, weakness, headache and neck ache. These are followed by vomiting, diarrhoea, decreased function of the kidneys and liver, skin eruptions and haemorrhaging.

In the final phase of the disease, patients experience multiple organ failure which, in some cases may be overcome in the second week of the virus’ evolution and in others may cause death.

It is a contagious disease from the onset of symptoms.

Who is affected by Ebola?

It is a common disease in West and Central Africa. The biggest outbreak occurred in 2014 and resulted in over 11,000 deaths (Guinea, Liberia and Sierra Leone).

The incubation period ranges between 2 and 21 days.

In humans it is transmitted through direct contact with the blood and body fluids of infected people and with objects contaminated with infected patients’ body fluids. It can also be spread through sexual contact up to three months before any sign of symptoms.

Diagnosis

It is essential to consider patients’ prior travel epidemiology and contact with others. Definitive diagnosis is carried out in laboratories in specialist centres, where the viral nucleic acid can be detected in biological samples. Before establishing an EVD diagnosis, other infectious diseases should be ruled out such as malaria, typhoid fever, dengue or meningitis.   

Typical treatment

As yet there is no specific treatment to combat the disease. It is important to keep patients well hydrated and maintain their arterial pressure, as well as provide to other essential life support.  

Prevention

Ebola prevention is based on different strategies:

• adopting strict protection measures in the care of infected patients.
• appropriate treatment of fluid samples, waste and corpses.
• monitoring and supervision of patient contact, to reduce the risk of spreading the disease to the community.
• providing healthcare information and education to patients.

A vaccination that has shown excellent results is currently in the approval stage.

Pulmonary arterial hypertension is a rare and serious condition that affects the pulmonary artery system. As the disease progresses, blood flow reduces. To compensate for this, the right side of the heart grows excessively, creating breathing difficulties.

It is defined by a rise in pulmonary artery pressure caused by abnormalities in the precapillary pulmonary arterioles due to uncontrolled hypertrophy, hyperplasia and proliferation.

Symptoms

Dyspnoea, syncope, palpitations.

Who does it affect?

It affects children and adults, especially women (65-80%) and usually appears in adulthood.

In around 50% of cases of pulmonary arterial hypertension the cause is unknown. The other 50% are related to:

• Taking drugs and toxic substances, such as some anorectics or colza oil.
• Autoimmune disorders such as systemic sclerosis
• Congenital heart disease
• HIV infection
• Liver disease
• Rarer causes

In Spain there are 16 cases for every million adults and the incidence rate is 3.7 for every million adults per year.

How is it diagnosed?

Diagnosis is via a series of tests:

• Full lung function test
• Lung scintigraphy
• Blood test
• Echocardiogram
• Right heart catheterization  

What is the treatment and how effective is it?  Can it be cured?

Although they will not cure it, there are several treatments that can significantly improve the condition, its prognosis and patients’ quality of life.

We are fortunate to have access to all the pharmaceuticals beneficial in fighting this disease:  

• Endothelin receptor antagonists (macitentan, bosentan, ambrisentan)
• Phosphodiesterase-5 inhibitors (tadalafil, sildenafil)
• Prostacyclin analogues (epoprostenol, treprostinil and iloprost)
• Direct simulators of soluble guanylate cyclase (riociguat)  
• Prostacyclin receptor Agonists (selexipag)

The decision about the most suitable drugs for each patient needs to be made by centres with experience. Lastly, if these measures are insufficient, a lung transplant can be considered in some cases.

How can I prevent this disease?

Taking anorectics, amphetamines and cocaine should be avoided. The HIV virus can also cause this condition and all factors, principally alcohol, that may lead to liver failure.  Apart from these measures there are no other means of prevention and efforts should focus on early detection.