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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.
Cancer is a group of diseases in which cells grow uncontrollably, invade nearby tissues, and may spread to other parts of the body (metastasis). Its behavior and treatment depend on the type of cancer and where it originates.
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.
Vascular rings, which mainly affect children, are alterations to the position of the large arteries (aorta) which compress neighbouring structures such as the trachea and oesophagus. This anomaly may result in various disorders. The most common include: double aortic arch, pulmonary sling, and right aortic arch with aberrant left subclavian artery.
Anomalies are difficult to detect in less severe cases as infants may not present any symptoms. However, in most instances the child may have:
In the most severe cases, symptoms may appear in the first year of life. There may be difficulty breathing which causes the baby to wheeze or breathe noisily, especially when they cry. If your baby shows this symptom, it is vital to seek advice from experts or professionals who can rule out the presence of vascular rings.
Diagnosis is carried out using tests such as an echocardiogram and a study of the aorta. Suspicions can also be confirmed with a CT angiogram, which will show the precise distribution of the blood vessels and their relationship to other structures such as the trachea and the oesophagus.
This anomaly can only be treated through surgery, which is performed without extracorporeal circulation except in the case of pulmonary slings. The procedure frees the compressed structures by repositioning or dividing the blood vessels causing the compression.
A bronchoscopy is performed as standard to assess the trachea and bronchi during surgery, and any changes are observed after the operation.
Following surgery children can lead a normal life.
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