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This syndrome is one of the most frequently treated gastrointestinal disorders in gastroenterology. It is characterized by chronic abdominal pain accompanied by changes in bowel movements in the form of diarrhoea or constipation. It is common in young women and can have a significant impact on the patient’s personal life, health, and economic and social welfare.
Scientific evidence from recent years suggests there are many different factors involved in developing this disease:
It is currently considered to be a disorder caused by an imbalance in the gut-brain-microbe axis This imbalance negatively affects the functioning of the intestinal barrier and activates the digestive system’s immune and nervous system. This creates visceral hypersensitivity and motor disturbances.
The most common symptoms are:
It is classified according to consistency:
It affects 7.8% of the population in Spain and twice the number of women compared to men: 1. IBS is the reason for 10-15 % of primary care appointments and 25-30 % of gastroenterology consultations. Over 50 % of patients are affected by other pain conditions such as fibromyalgia, headache or pelvic pain, and also by other gastrointestinal disorders such as dyspepsia or by anxiety disorders and depression.
IBS is diagnosed by fulfilling a set of clinical criteria based on symptoms and on the exclusion of other organic causes that may act in a similar way.
Diagnostic criteria known as the Rome IV criteria have been established by medical consensus by committees of experts. The following are required for diagnosis:
When determining treatment, it is important patients understand the chronic and fluctuating nature of the disease. To draw up an appropriate treatment plan, the doctor must identify the dietary and psychic-social causes of the illness.
Specific treatments are beginning to be introduced for IBS, such as linaclotide, eluxadoline and lubiprostone, but not all are available in Spain. There are also many treatments designed to control symptoms, such as anti-spasmodic drugs, laxatives and anti-diarrhoeals.
It is a hole in the partition that separates the two atria and that causes the right side of the heart to be overloaded. Children with ASD do not show symptoms, even though the right side of the body has to work with a much larger volume of blood.
Depending on the position of the atrial septal defect, ASD is classified into three types:
“Ostium Primum” is considered a different defect due to the damage associated with it.
ASD is one of the most common heart defects (6-10%) and is more common in women.
In most cases, children with ASD show no symptoms. For this reason, it is detected when listening to the heart during a routine examination detects a heart murmur. In that case, an echocardiogram should be carried out on the patient to identify the defect and determine treatment options.
When the defect is small with no significant blood flow no procedure may be necessary. On the other hand, if this is significant, the characteristics of the ASD must be assessed to decide if it is necessary to close it via catheterization or surgery.
Closure via catheterization consists of inserting a device to close the defect and stop blood passing from one chamber of the heart to the other.
When the defect is large or its shape prevents the percutaneous device entering, this closure must be performed through surgery. The procedure consists of fitting a patch over the hole in the partition, made either from synthetic material or tissue taken from the patient themselves.
Children who have undergone ASD closure have a similar life expectancy and quality of life to healthy patients. In fact, the survival rate is over 99.7%. In contrast, patients with ASD who do not undergo surgery see a decline in their life expectancy after forty years old.
Chagas disease is an infection caused by the “Trypanosoma cruzi” parasite which is transmitted through the bites of an insect (the “kissing bug”). The disease can also be spread from mother to child (vertical transmission), through blood transfusion, organ donation from people infected with the disease or from eating food contaminated with the parasite. For the moment, the number of new cases has been reduced thanks to policies to eliminate the insect in countries where it is endemic, as well as thanks to screening programmes aimed at blood and organ donors and pregnant women. The future challenges to cure this disease are maintaining and increasing these measures in addition to developing new treatment evolution and response markers for patients in the chronic phase, and new drugs to treat the disease.
Chagas disease is endemic to Latin America and is a global health challenge due to migration from countries in the region. Transmission via insect is mainly found in Bolivia, which has the highest number of cases. There are also infections in north-west Argentina, Peru, Paraguay, Ecuador, Nicaragua and southern Mexico. Outside these areas it is more commonly transmitted from mother to child.
Most patients with Chagas disease do not show any symptoms, which makes it difficult to detect. The disease develops in two phases:
This disease affects six to seven million people, but 60 million are estimated to be at risk of infection. There are 11,000 cases in Catalonia.
There are currently two drugs that are used to treat Chagas disease: Benznidazole and Nifurtimox. Specific treatment is needed to address any cardiac and/or gastrointestinal complications that may arise.
Since 2011, Catalonia has implemented the “Protocol for screening and diagnosing Chagas disease in pregnant Latin American women and their babies”. This programme allows possible congenital cases to be detected, and at the same time actively screens blood and organ donations from donors.
Strokes are a medical condition caused by an alteration in blood circulation to the brain. This alteration is due to an artery becoming blocked (ischemic stroke) or the rupture of a blood vessel (haemorrhagic stroke), preventing blood from reaching the brain and therefore temporarily or permanently altering brain functions. When blood flow is impeded, the affected part of the brain does not get the nutrients and oxygen it needs. As a result, brain cells can die, causing severe after-effects.
For this reason, if a person is suspected of having a stroke, the Emergency Medical Service should be notified immediately by calling 112. Acting quickly is essential in order to minimise or eliminate possible after-effects.
Strokes can be grouped into two broad categories depending on the reasons behind them:
When blood flow is temporarily interrupted (for between one and 24 hours), this is known as a Transient Ischemic Attack (TIA); however, if the duration is longer or the brain scanner detects necrosis (neuronal death), it is considered an ischemic stroke. TIA is a predictor of vascular disease and, in the case of stroke, is a warning that the person is at risk. In fact, 40% of people who suffer a stroke have previously suffered a TIA.
In the event of the sudden onset of one or more of the following symptoms, action should be taken quickly by calling 112:
Anyone can suffer a stroke, regardless of age and physical condition, although they are more common in the elderly. About 75% of cases occur in people over 65, although they increasingly affect young adults due to their lifestyle habits (between 15 and 20% are under 45). Strokes can also affect children: in Catalonia alone, 900 children live with a disability as a result of a stroke.
This disease can also be known by other names, such as apoplexy, cerebral vascular accident, seizure and thrombosis. In Catalonia, more than 13,000 people are admitted each year for a stroke and, unfortunately, they are not always reached in time to save the patient.
To determine the cause of a stroke it is necessary to perform a brain scan (CT). The scan can be completed by reviewing the condition of the cerebral and cardiac vessels, taking into account risk factors and chronic diseases presented by the patient. However, it is not always possible to discover the origin.
Knowing the cause of a stroke allows us to establish the most appropriate treatment to prevent it from happening again. Depending on the aetiology (cause), it can be classified as:
If a stroke is suspected, a neuroimaging test (a CT or MRI) should be performed as soon as possible, which will tell us about:
Specialists may request other tests such as a chest x-ray (performed upon admission as a first assessment), a doppler or transcranial duplex (to see whether there is a possible intracranial occlusion or stenosis, and where it is located), blood tests (to find out the status of risk factors, immunological and coagulation study, serologies, hormones, renal function, etc.) or a cardiological study (if a cardioembolic stroke is suspected).
After diagnosis, specialists may ask to repeat the tests to detect any changes by comparing the images, or request other tests.
Stroke treatment should be applied immediately, as rapid action can lessen the effects. However, a rehabilitation period is usually needed to eliminate or reduce possible after-effects.
After suffering a stroke, the risk of having another is higher, so it is necessary to take medication to reduce the risk, always following medical guidelines. The first year after suffering a stroke is when there is the highest risk of relapse.
Suffering a second stroke may have a fatal outcome. In survivors, it leads to an increase in the degree of disability and risk of dementia, as well as a higher rate of institutionalisation.
The impact may be different for each patient. Symptoms will be more or less severe depending on the area and volume of the brain affected, as well as the general state of health prior to the event.
In the case of a transient ischemic attack (TIA), which does not usually leave after-effects, or ischemic strokes, if the patient responds well to treatment, recovery is virtually immediate. At other times, the recovery is longer term and takes weeks or months, leaving some sort of after-effects.
There may also be a worsening of the patient due to neurological causes or complications such as fever, infections or others. In more severe cases, it can lead to death.
Once the patient is discharged, the primary care team takes responsibility for the patient, and will monitor risk factors and other chronic diseases. In complex cases, patients will need to visit specialists, such as neurologists.
The return home after hospital discharge will vary depending on the severity of the incident and the patient's family situation. Similarly, reintegration into daily life will depend on the after-effects experienced by each patient.
Total anomalous pulmonary venous connection (TAPVC) means that there is no connection from the pulmonary veins to the left atrium. Instead, they are redirected to the right atrium through an unusual connection. This defect affects new-borns and may need urgent surgery depending on its severity. Other, less severe cases may be detected when the baby is a few weeks or months old. In these cases, surgery is also necessary.
In a heart that functions normally, veins take oxygenated blood from the lungs to the left side, and from here to all parts of the body.
In people with TAPVC, oxygenated blood reaches the right side, where it mixes with deoxygenated blood and passes through a hole in the interatrial wall to the left atrium. This means that oxygen levels are lower in these children.
This anomaly works in different ways depending on the level of severity:
An echocardiogram can detect if a child has TAPVC. This is carried out within a few hours of birth for babies with TAPVC with obstruction. In other children, it is customary to carry out the test after listening to the heart and detecting a murmur and observing low blood oxygen levels.
In addition, an additional imaging test is usually done, such as computed tomography (CT scan) or an MRI to study the anomaly or defect.
Patients with TAPVC have to undergo surgery. In this procedure, the pulmonary vein flow is redirected to the left atrium and the anomalous communication with the right atrium corrected.
New-borns with TAPVC with obstruction are in a life-threatening situation. It is therefore necessary to perform surgery as soon as they are born to correct the anomaly.
For patients with TAPVC without obstruction, elective surgery can be performed once diagnosis is made.
Children who have had surgery for TAPVC can live a normal life and do not require further procedures. However, cardiological monitoring is necessary.
Coarctation of the aorta is a malformation in which the aorta narrows just after the outlet that supplies blood to the head and arms. This restricts the passage of fluid and the heart has to work harder to pump it to the other organs.
Some patients develop hypoplasia when the reduction involves the entire aortic arch.
Coarctation varies in different age groups depending the level of severity and its form. It is also associated with other cardiac alterations such as patent ductus arteriosus, bicuspid aortic valve, ventricular septal defect and anomalies in the mitral valve.
During the neonatal period, some patients’ blood flow may go towards the lower body, which is dependant on the ductus arteriosus. When this begins to close, circulatory collapse occurs due to the excessive load on the heart and insufficient circulation in the abdominal organs. These patients first need to be stabilized and then treated.
This is a common type of heart disease representing 5-6% of all heart pathologies. There are between 0.2 and 0.6 cases for every thousand live births.
In the neonatal period, diagnosis is via transthoracic echocardiogram, but after this stage patients do not show symptoms. For this reason, it is diagnosed when high arterial pressure is detected during a routine check up. This is usually done with an echocardiogram, but other tests tend to be carried out such as a CT angiogram or nuclear magnetic resonance imaging to define the characteristics of the coarctation.
Hypoplasia of the aortic arch is also diagnosed prenatally via echocardiogram without the need for further tests.
In the neonatal period, patients usually need surgical treatment. The operation consists of resectioning the narrow segment of the aorta and then joining it to the healthy segments. In older patients, surgery is the preferred option and the procedure is similar to that for new-borns. Techniques to expand the narrowed area such as fitting a patch can also be used,
or in other cases interventional haemodynamics is considered. If this is the case, dilatation with high pressure balloons is performed to correct the narrowing. Following this, a metal stent is implanted in the area of coarctation to keep the vessel at the correct calibre. Hypoplasia of the aortic arch is repaired in the first two weeks of life. This is done by using a patch to enlarge the narrowed section of the aorta. If there is a related ventricular septal defect, this is often closed during the same surgery. Once out of the operating room the mortality rate for this disease is 1%.
6-10% of patients will, however, go on to develop a new narrowing of the aorta (recoarctation). This will require further surgery or another procedure. In 0.5% of cases there are no serious complications associated with this disease, but in older patients there is a chance that arterial hypertension may not improve after the repair. In terms of hypoplasia of the aortic arch, 5 % of those treated require further procedures due to recoarctation.
This is a heart condition affecting babies in which the two main arteries of the heart (the aorta and the pulmonary artery) originate in the right ventricle. This kind of disorder may be associated with other alterations such as ventricular septal defect (VSD) or pulmonary valve stenosis.
A ventricular septal defect (VSD - or interventricular communication) is a hole in the partition separating the two ventricles. Communication between them is necessary, as it allows oxygenated blood from the left chamber to pass to the aorta.
In the case of double outlet right ventricle (DORV), however, oxygenated and unoxygenated blood becomes mixed, meaning the oxygen level is lower than normal. Different corrective measures must be taken depending on the characteristics of the condition.
Besides this, some children may have pulmonary valve stenosis, which is when there is an obstruction in the blood flow to the lungs.
Double outlet right ventricle is diagnosed via echocardiogram. It is increasingly detected prenatally or when a baby has just been born. In some cases, imaging or catheterization techniques have to be undertaken to look at the DORV in detail to determine the most appropriate surgical procedure.
DORV and related damage is usually surgically repaired during the first six months of life. In this procedure, the left ventricle is connected to the aorta, and the septal defect is therefore closed off.
In babies without pulmonary stenosis, a band is also usually fitted around the pulmonary artery to reduce the excessive pulmonary blood flow.
A different procedure has to be carried out on babies with pulmonary stenosis. In this case, the valve has to be repaired with a patch enlargement, or in more serious cases, using a conduit. If stenosis is severe, it may be necessary to perform intermediary surgery to increase lung flow and reach an adequate level of oxygen in the blood before the final repair can be carried out.
Most patients need no further intervention during their lifetime, apart from children who have been given corrective surgery such as a conduit into the pulmonary artery. In this case further surgery will certainly be required. Despite this surgery, most children treated will be able to lead a normal life, although they will have to be monitored by a cardiologist.
They are inherited diseases affecting the heart and aorta. A range of diseases are included such as myocardiopathies, conduction diseases, and genetic aortopathies.
Myocardiopathies are diseases of the myocardium, the muscular tissue of the heart. There are several types of myocardiopathy: dilated, hypertrophic, non-compaction, arrhythmogenic dysplasia of the right and/or left ventricle and restrictive. Imaging techniques are used for diagnosis. Medical treatment and, where necessary, fitting a resynchronisation defibrillator can avoid complications and improve patients’ quality of life.
Pharmacological provocation tests are important for diagnosis of conduction diseases such as Brugada syndrome, long QT and short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Treatment is medical and sometimes a defibrillator device may need to be fitted.
Inherited aortopathies, or diseases of the aorta, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome require imaging techniques to diagnose them accurately. Medical treatment and elective surgery prevent complications arising.
Symptoms of inherited heart disease are:
The prevalence of these disorders varies between 1/500 for hypertrophic myocardiopathy, 1/5,000 for conduction disorders and 1/5,000-10,000 for Marfan syndrome. Some of these diseases can therefore be said to be rare.
Diagnosis is reached using:
Treatment may require aortic surgery, the use of a resynchronisation automatic defibrillator implant or septal ablation.
Knowing the family medical history is important for all inherited heart diseases. Family screening can detect undiagnosed cases and lead to early treatment, and in some cases, preimplantation diagnosis.
An autoimmune disorder, coeliac disease is the genetically predisposed reaction to ingesting gluten; a protein found in wheat, rye, barley, oats, spelt, kamut, and triticale. For coeliacs, ingesting gluten damages the villi in the small intestine, affecting their capacity to absorb nutrients from food (proteins, carbohydrates, fats, vitamins and minerals). People of any age may have the condition, and although people from any part of the world may be affected, it appears to be most common among white people whose ancestors were from Northern Europe. The most recent studies show the disease affects around 1 person in 100, and it is currently considered the most common chronic intestinal disorder in the western world.
Although some coeliacs may not show any symptoms, the most common are:
It is not fully understood why someone may develop coeliac disease, but several genetic factors are known to make people predisposed to the condition. However, it appears that having a genetic predisposition does not necessarily lead to the disease and that certain environmental factors are required. Despite its genetic origin, we cannot say that it is an inherited disease, although if we look at the general population, the likelihood of someone having the condition is increased if a family member also has it. If there is a family history then the likelihood of having it is 10 %.
First-degree relatives of coeliacs and people with related illnesses such as type 1 diabetes or autoimmune diseases are at greater risk.
Coeliac disease may occur at any age and is more prevalent in women than in men. In Catalonia 1 in every 204 citizens has the condition and it is more common in children than in adults.
The diagnostic process is based on clinical suspicion or recognising some of the risk factors. Serological markers such as anti-transglutaminase antibodies or deamidated gliadin peptide antibodies are used. If they are positive, an endoscopic intestinal biopsy should be performed to confirm diagnosis.
Genetic testing for HLA-DQ2 and HLA-DQ8 can also be carried out to identify people at risk of developing the disease.
Treatment for coeliac disease currently consists of completely and permanently eliminating gluten from the patient’s diet.
Coeliacs cannot eat any foods that contain wheat, oats, barley, or rye. In most cases, complete and lasting recovery from the intestinal damage is achieved, provided the patient does not go back to eating foods containing gluten. Avoiding gluten is only recommended for people with coeliac disease or non-coeliac gluten intolerance and is not necessary, nor recommended, for the general population.
Cancer is the abnormally fast multiplication of cells which spread and invade nearby tissue or other parts of the body. It can also spread to other organs. This is known as “metastasis”.
There are over 200 types of cancer. They are normally categorised according to the tissue or organ where they originate. Different molecular subtypes are often included which determine the course of treatment and therapeutic options.
Cancer is a complex disease that varies depending on the type of cancer, location, tumours, malignancy, causes and approaches.
Symptoms of cancer can be varied and very much depend on the type of tumour. However, many cancers may give warning signs such as:
39,900 cases were diagnosed in Catalonia in 2015, excluding skin cancer or melanoma. This breaks down as affecting 23,600 men and 13,300 women. The incidence rate is 345 cases for every 100,000 men and 217 for every 100,000 women. In men, the most common cancer is prostate cancer, followed by colorectal and lung cancer. In women, the most common cancers are breast, colorectal and lung cancer. The mortality rate for cancer is around 109 cases for every 100,000 men and 55 for every 100,000 women.
Different tests are used to detect cancer, such as:
Imaging tests can also be requested such as:
Finally, tissue analyses are requested:
Cancer is treated using a multidisciplinary approach and different medical specialisations are combined to treat it appropriately. This treatment follows a protocol: surgery, radiotherapy and chemotherapy. There are also specific therapies for some tumours such as hormone therapy, targeted therapies or immunotherapy.
A series of factors influence and have an impact on cancer:
There are also screening programmes for some kinds of cancer.
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