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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.
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.
Some patients develop hypoplasia when the reduction involves the entire aortic arch.
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.
Celiac disease is an autoimmune disorder in which gluten intake damages the small intestine, impairing nutrient absorption. It can appear at any age and causes digestive and non-digestive symptoms. Diagnosis is made through serological tests and biopsy, and the only treatment is a strict gluten-free diet.
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 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.
Asperger’s syndrome is a neurodevelopmental disorder that falls within the spectrum of autism disorders. It is typified by social awkwardness, limiting interests and ongoing behaviours. These symptoms make it difficult for patients to have a normal social life and they also affect family life.
Children and teenagers with this disorder show the following symptoms:
People with this disorder may appear normal and have a normal level of intelligence but find it hard to relate to others and communicate.
It is a very common disorder (3-7 of every 1000 births). There are currently more recorded cases in boys than in girls, but this data is likely due to it not being recognised and diagnosed in girls as often.
Structured reliable clinical interviews help to define clinical symptoms at different ages. It is not currently possible to diagnose Asperger’s at birth as the necessary biological markers do not exist yet.
A differential diagnosis is very important to rule out other neurodevelopmental disorders such as foetal alcohol syndrome, and those with a genetic cause such as ADHD.
A mental health professional will prepare treatment, which should focus on teaching the patient social skills and competencies (for example, reading social situations, adjusting the tone of voice according to context, taking turns in conversation, etc.) They can also help patients organise their time and avoid periods of inactivity or excessive time spent on their limiting interests. A stable and planned environment with no abrupt change is essential for the patient's well-being.
It is not currently possible to prevent Asperger’s syndrome as it is probably of genetic origin, which implies multiple genes interacting with the environment.
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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