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This is a malformation of the aortic valve that progresses over time and obstructs blood flow out of the left ventricle. Aortic stenosis is often associated with more than one kind of obstruction, such as mitral valve stenosis, coarctation of the aorta, and supravalvular aortic stenosis. This means it can occur as part of hypoplastic left heart syndrome.
Aortic stenosis makes up 3% to 6% of congenital heart diseases detected during childhood. In occurs in 3% to 4% of men and women.
Patients are usually children who do not show any symptoms and develop normally but who are discovered to have a heart murmur during a routine examination. Aortic stenosis may also be detected through the following tests:
Echocardiogram: this is the most effective way to confirm diagnosis. This also enables the valve morphology to be defined and the level of severity evaluated.
Stress test or ergometry: this shows whether the child has symptoms such as high blood pressure, angina, syncope and signs of ischemia, which help to determine the severity of the condition.
The type of treatment will depend on the severity of the condition.
If the percutaneous or surgical valvotomy does not manage to stop the insufficiency or obstruction, then valve replacement is performed. This replaces the aortic valve with a graft from the same patient’s pulmonary valve, or one from a donor.
Patients who have undergone this treatment have a similar quality of life to the rest of the population. Despite this, however, around 20 % will live with mild stenosis for 30 years and 20 % will require surgery on the valve.
Hypoplastic left heart syndrome (HLHS) encompasses a series of anomalies that all have a very small, or “hypoplastic”, left ventricle, which is incapable of pumping the required amount of blood to supply all the organs and tissue in the body. In this situation, the right ventricle keeps blood circulating. Children with this type of anomaly tend to have other structures of the left side of the heart that are also smaller. Often the mitral valve, the aortic valve or the aorta itself are smaller than they should be. Hypoplasia of the left chambers is one of the most serious heart defects, although very good outcomes are achieved in centres with experience of the condition such as ours.
It is often diagnosed in the foetus during an echocardiogram. This test can identify which structures are affected by the syndrome in order to decide the best treatment.
These anomalies are usually treated with surgery during the first week of the baby’s life. This operation connects all the vessels coming out of the heart into just one, to ensure blood flows to the body. This procedure is known as “the Norwood procedure”.
In this first surgery, blood reaches the lungs via a conduit that exits the aorta (systemic-pulmonary fistula). Two further procedures will be needed. The aim of this surgery is to make the heart work solely with the oxygenated blood it receives from the lungs, and to pump it to the tissues of the body. Blood flows to the lungs through the network of veins that transport unoxygenated blood (Glenn and Fontan procedure).
Children who have had this heart defect must have their neurodevelopment closely monitored by experts in this field, to evaluate the child’s educational development and growth. Close monitoring is necessary from a cardiological point of view, above all during the first few days of a child’s life. Monitoring the patient will show when surgery is necessary, how they should be managed medically, and how to treat complications, should any arise.
Unfortunately, there are currently no measures that can be taken to prevent these anomalies.
It is a hole that may be found in any part of the partition dividing the ventricles, and may be one hole or multiple, and of varying sizes and shapes. VSD may be associated with more complex heart defects such as tetralogy of Fallot, transposition of the great arteries or atrioventricular canal.
Small ventricular septal defects reduce in size over time and in many cases may close up by themselves, particularly during the first two years of a child’s life. The overall rate of spontaneous closure is 30-35% of cases.
In general, children with small VSD do not show any symptoms and So their eating habits, growth and development are all normal. This hole is detected via the presence of a murmur during the first weeks of life.
Children with a medium or large VSD develop symptoms in the first few weeks after being born. These may be:
VSD is one of the most common heart defects, if we do not include bicuspid aortic valve. It represents around 20% of all heart defects.
VSD is detected by an echocardiogram, which can confirm the number, size, location and functional repercussions.
Babies with small VSD do not need surgical treatment.
Those with medium to large VSD who develop cardiac insufficiency, on the other hand, must undergo medical treatment. If symptoms persist, early corrective surgery will be carried out, which consists of closing the hole with a patch, or a device implanted by cardiac catheterization.
If there are no other defects associated with the VSD, surgical mortality is 0%. After the operation, patients can lead a normal life the same as the rest of the population.
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.
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.
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.
Cardiology, General Hospital
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