The term interrupted aortic arch is used for an extremely rare, genetically caused cardiac and vascular malformation, the effects of which are comparable to aortic isthmus stenosis. Between the ascending and descending branches of the aorta in the area of the aortic arch, a section of the aorta is not formed or is completely absent, so that the arterial blood that is pumped from the left ventricle into the aorta fills the supply areas of the descending aorta and its branching arteries can not reach.
What is a ruptured aortic arch?
An interrupted aortic arch is a very rare cardiac and vascular malformation in which a short piece of blood vessel in the area of the aortic arch is insufficiently formed or is missing entirely. As a result, the arterial blood flow is already interrupted in the area of the aortic arch in which the malformed section of the aorta is located. For idiopathic juvenile osteoporosis basics, please visit theinternetfaqs.com.
Depending on the exact localization, the interrupted aortic arch is referred to as type A, B or C, with type B being by far the most common appearance with around 78 percent of cases. Type B vascular malformation is located in the area of the ductus arteriosus Botalli between the branch of the left carotid artery (Arteria carotis sinistra) and the left subclavian artery (Arteria subclavia sinistra), so that signs and symptoms are comparable to those of coarctation of the coarctation.
The parts of the body, especially organs such as the liver, kidneys and the digestive tract, which are normally supplied by the arteries branching off behind the malformation, can no longer receive arterial blood in the normal way. The interrupted aortic arch is usually accompanied by other cardiac malformations, which under certain circumstances can ensure survival in the short term.
Survival cardiac defects can be, for example, a patent ductus arteriosus or a ventricular septal defect (VSD). The ductus arteriosus creates the short-circuit connection between the aorta and the two pulmonary arteries, which must be present before birth because the pulmonary circulation is still functional. A similarly effective malformation that enables survival is a ventricular septal defect, which causes the pulmonary circulation to mix with the systemic circulation.
The causes of an interrupted aortic arch lie exclusively in certain mutated genes. The disease or vascular anomaly is therefore always congenital. It is not known what factors trigger the mutations that ultimately lead to the malformation within the aortic arch.
It is impossible that environmental influences or toxic substances during a certain period of pregnancy directly cause the anomaly in the aortic arch. However, it cannot be ruled out that certain toxic substances or exposure to radiation in the germ line cause the gene mutations.
Symptoms, Ailments & Signs
A ruptured aortic arch does not usually appear as an isolated malformation, but is often accompanied by a ventricular septal defect and a patent ductus arteriosus. At least one of the two aforementioned heart defects is necessary for the newborn to have a chance of surviving.
This is because the lower part of the body, including the abdominal organs, can only be supplied with blood via the short circuit between the pulmonary and systemic circulation. However, the heart has to do much more work for this and the lungs are overloaded with blood. The newborns become exhausted quickly and show typical symptoms such as increased neonatal jaundice and a sallow appearance with pale gray skin.
Urinary excretion is usually also disturbed, and symptoms of cardiac shock may appear. The complaints and symptoms that the newborns show are also similar to those of a newborn infection and therefore harbor the risk of a misdiagnosis.
Diagnosis & course of disease
The partly non-specific symptoms of the interrupted aortic arch leave room for misdiagnoses. Regardless of whether an ultrasound cardiography or an X-ray is performed, a missing pulse in the groin artery indicates a blockage in the upper part of the aorta. It can also be an aortic or aortic isthmus stenosis, which requires similar immediate measures.
Left untreated, the ruptured arch of the aorta, provided there is no VSD and the ductus arteriosus closes properly, is usually fatal within days of birth. If a VSD is present or the shunting of the two blood vessels via the patent ductus arteriosus Botalli persists, survival is very likely. In the further course of the disease, replacement vessels can even form, some of which can take on a bridging function for the missing part of the aortic arch.
If cardiogenic shock occurs as a result of impaired urinary retention, this can lead to shortness of breath, disturbances in the heart rate and ultimately death from heart failure. In the course of the disease, the newborns also suffer from increasing exhaustion, accompanied by external changes. Newborn jaundice can cause irreversible damage to the muscles and brain.
People also drink poorly, which puts them at risk of dehydration. Risks also emanate from a possible misdiagnosis. Since the symptoms are similar to those of neonatal sepsis, a comprehensive examination must be undertaken to diagnose the ruptured aortic arch – something that is not always done due to the urgency of the treatment.
Surgery on newborns carries some risks. During the operation, sensitive injuries to the heart and aorta can occur. Infections rarely occur after an operation or the wound does not heal properly. A scar usually remains, which can be a burden for those affected later in life.
The drugs used also pose additional risks. Young children have an increased risk of side effects if the medication is not properly dosed. An overdose of painkillers, for example, can lead to body aches and impaired consciousness.
When should you go to the doctor?
The disorder is a genetic disease. Therefore, immediately after the birth, the first irregularities are noticed by those present. Normally, a birth takes place under the supervision of a doctor or with the help of midwives and other obstetricians. They automatically take over the first examinations to clarify the child’s state of health. If there are irregularities, abnormalities or peculiarities of health, further tests are carried out to clarify the cause. Parents should always be accessible to the attending physicians or obstetricians.
There must be close communication between the medical team and the child’s legal guardians to clarify queries or to allow the use of certain test procedures. If the skin of the newborn changes, if the infant shows unusual behavior or if there are problems with breathing, there is an acute need for action. A pale appearance, weakness or disturbances in the excretions should be examined.
If the birth takes place without the presence of carers from the medical field, a doctor must be consulted immediately after the birth. Check the health of mother and child. It is advisable to alert an emergency service or to go to the nearest hospital on your own responsibility as quickly as possible.
Treatment & Therapy
The ultimate goal after diagnosing a ruptured aortic arch is to prevent the ductus arteriosus from closing or to reopen it. This can be achieved medicinally by administering prostaglandin E1. The next step is to obtain an accurate diagnosis of the condition of the heart, the aortic arch, and the descending portion of the aorta using imaging techniques.
Depending on the determined anatomical conditions of the heart and the aorta, it can be decided when which interventions can be carried out. A decision must be made to replace the missing connector of the aortic arch, including the arteries branching from it, and to “patch” any VSD that may be present and ensure that the ductus arteriosus also closes. Depending on the circumstances, the individual objectives of the operation can be completed in a single operation or in two operations, i.e. in one or two stages.
There are no known preventive measures that could reduce the risk of developing a ruptured aortic arch. If other cases are known in the family, delivery in a children’s hospital with an attached heart center is recommended for safety reasons. The fact of a possible increased risk that the child will be born with heart defects should be discussed with the responsible physicians in order to be able to take the right therapeutic steps if necessary.
After a successful surgical treatment of a congenital interruption of the aortic arch, ongoing checks are indicated. As a rule, the follow-up examinations must also extend to the heart, since the malformation of the aortic arch is almost always associated with malformations in the heart of the newborn. The follow-up examinations mainly concern blood pressure and other circulatory checks to ensure that the aortic arch continues to have normal patency.
This also includes ultrasound examinations of the aortic arch. Equally important is the follow-up examination of the heart to determine whether its performance is sufficient to maintain blood circulation under conditions of rest, but also under different stress levels. If the surgical intervention consisted of making the interrupted aortic arch passable with a plastic prosthesis, a so-called patch, the follow-up examinations also extend to the artificial piece of aortic arch.
It does not grow with you during the growth phase and cannot automatically adapt to the changed conditions. There is a risk of complications. In this case, the part must be replaced with a larger patch. In rare cases, adolescents and adults are also affected by a ruptured aortic arch. Because bypass circuits have formed in them, the undesirable development was not noticed. In principle, regular follow-up examinations are also recommended for them in order to be able to react to changes at an early stage.
You can do that yourself
A ruptured aortic arch requires surgical treatment. The therapy can be supported by rest, an adapted diet and physical activity. A heart-healthy diet consists of unsaturated fats, fruits and vegetables. Saturated animal fats, which are mainly found in red meat, should be avoided. In addition, sufficient omega-3 fatty acids must be consumed, which are particularly found in salmon and seafood. The nutritional plan is put together by a nutritionist or the doctor in charge and should be strictly adhered to.
The sporting activity must be chosen with regard to the course of the disease. As a rule, no strenuous activities should be carried out if you have a heart condition. Above all, short units and easy hikes or gentle aqua jogging are ideal. Pulse limits determined by the doctor must not be exceeded. A physical therapist can create a suitable exercise plan that incorporates medical therapy.
Rest is important immediately after an operation. After a successful procedure, patients can leave the clinic after just a few days or weeks. Patients should continue to take sick leave until they are restored to their former capacity.