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In Italy every year, 4,000 children with congenital heart disease
REPRESENT 40% of the malformations that is possible to diagnose at birth, and cause 4% of deaths in the first 28 days of life. Are the congenital heart diseases that concern in Italy 4000 children per year and in severe cases can impair quality and duration of life. But with a proper prevention of pregnancy and with a diagnosis that is timely, the risk of having a child who is infected you can reduce. Is the message that the Italian Society of neonatology (Sin) and Italian Society of pediatric cardiology and congenital heart disease (Psci) entrusted to the prospective parents on the occasion of the Day raising awareness about heart defects present at birth, that today, 14 February, is celebrated all over the world.
what we are talking about. And causes
The congenital heart disease concern in our country, 4000 children per year, one in 100 live births. Are different conditions and of different severity, but all are characterized by changes of the structure of the heart or great vessels that originate in the course of the first weeks of embryonic development. Although they are considered typical pathologies multifactorial, that is, conditions caused by multiple factors that interact, both epidemiological studies in molecular biology have revealed more and more over the years, the role of genetics: often at the base of malformations (involving in addition to the heart and also the respiratory system and the digestive tract), there are in fact anomalies at the level of chromosomes and individual genes. Environmental factors or toxic substances (in particular alcohol and drugs) as well as some infectious diseases can provoke them, although in a minority of cases.

different Conditions and of different severity, we said. In fact, congenital heart disease range from diseases that resolve also sometimes spontaneously, up malformations severe that require a course of treatment and more complex surgeries, and cardiac. Among the most critical conditions the most important of which are the transposition of the great arteries (1/1750 born), the pulmonary atresia (1/7000 births), coarctation of aorta (1/3300 births), aortic stenosis (1/2600 births) and the venous return total anomalous pulmonary (1/10000 births).

For clinical particularly serious, involving a life-threatening immediate, thanks to the most modern surgical techniques and cardiac care, today we are able to achieve a survival rate of 12 months of more than 90%, experts say SIN and PSCI. When diagnosis and treatment are timely.
prenatal diagnosis: the images and the combined test
for 20 years, it is possible to anticipate the diagnosis of ischemic heart disease in pregnancy: a big step forward. “The spread of prenatal diagnosis - has said, in fact, Fabio Mosca, president Since, has allowed over the past 20 years of program delivery in facilities with paediatric cardiology and paediatric cardiac surgery, significantly reducing the morbidity and mortality of these emergencies neonatal and in any case may result in repercussions both on the quality and duration of life of the patient”.
Catch heart disease before birth
diagnosis before birth is possible through imaging techniques, such as ultrasound, and, although in experimental terms, and, in selected cases, – say the specialists - nuclear magnetic resonance. The ultrasound of the first level, in practice those routinely performed in the course of pregnancy, are able to identify a congenital heart disease in 50-60% of cases (considering all the types of heart disease). It is therefore important, say experts, Sin, and the Psci, the role of the so-called “combined test” which includes the assessment of blood tests and clinical parameters and ultrasound to estimate a possible risk of a genetic condition of the fetus. A test that allows you to direct all future parents, with high-risk pregnancies towards investigations of higher level.
Scans of second-and third-level
A possible obstetric ultrasound of a second level assesses the overall anatomy of the fetal and all the functional parameters, and allows you to select with a adequate security for the mothers who have to be subjected to an examination echocardiographic fetal targeted (third level). “Fetal echocardiography performed by expert personnel and modern equipment, is able to identify a congenital heart disease in more than 90% of the cases, considering all the types of heart disease, beginning from the 20th week of pregnancy,” says Roberto Formigari, President of the Psci. “In this context, he adds, are key figures of the cardiologist and cardiac surgeon pediatric which are the only figures relevant professional for proper counseling and to target future parents in a time of difficult choices”.


In some cases, particularly selected diagnosis before birth allows to intervene on the fetus to promote the circulation of the unborn child. However, these therapeutic interventions – the specialists say Sin and Psci - at the moment are methods of treatment is not a routine scan in the centers of the highest specialties.
The diagnosis after the birth
During pregnancy, the fetus has a blood circulation very different from that in the postnatal, this fact, in many cases, neutralizes or limits the effect of the pathological of cardiac abnormality, which becomes apparent at a distance of hours or days, when they appear clinical symptoms: respiratory distress (the lungs are not able to work properly), cyanosis, low cardiac output (the right ventricle and the left ventricle is able to eject a volume of blood is reduced) experts say. To catch early most of the congenital heart disease is a very useful technique is the screening with pulse oximetry. This examination (which measures oxygen saturation in the blood) along with the ability to do pre-natal diagnosis, a clinical examination accurately in the newborn and the timeliness of care, did reduce the neonatal mortality for congenital heart disease in a substantial manner.

For these reasons, “the role of the neonatologist in the first few days of life of children is essential as is that of the cardiologist and cardiac surgeon pediatric for correct diagnosis and for the fulfilment of the therapeutic procedure is more appropriate, and for the choice of a place of birth adequately equipped and in which are present all the necessary professional skills,” he added, Moscow.


prevention, last but not least

having Said all this, what can the future parents to prevent congenital heart disease or to deal with them for a time in order not to compromise the quality and duration of life of the child? Here are the recommendations of the Sin and of the Psci: to prevent congenital malformations contact your doctor when planning a pregnancy, to implement the diet with folate (to start at least three months before conception), to adopt lifestyles appropriate (not to take alcohol during the entire pregnancy, and lactation), vaccinated against the main infectious diseases to the teratogenic risk, that is, against those micro-organisms capable of causing abnormalities in the embryo.
In case you have already received a diagnosis of congenital heart disease, fetal or after the birth, “the stabilization of the medical of the baby and taken into the charge of a paediatric cardiology and cardiac surgery allow, in the majority of cases, optimal treatment, and - concludes Roberto Formigari - the best guarantee of success, even in the long term”.

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