Category Archives: Cardiovascular

Detecting a gene facilitate handling a very common family disease

From this time it is easier to identify people with dilated cardiomyopathy, a type of familial disease that is estimated to affect one in 250 people and offer the most appropriate treatment. Thanks to British scientists, physicians are able to locate more precisely the genetic mutations in the Titin gene causing the disease of the heart, which will pave the way for a diagnosis more necessary in these people.

For a long time mutations in this gene has been linked with dilated cardiomyopathy. However this gene is the most important of those identified in the development of this pathology in particular, but in many times its mutations were not pathological.

The data published in “Science Translational Medicine” solve a problem for cardiologists and open the door to design tailored treatments for these patients. It is information about what mutations are those that indicate that a person has an increased risk of dilated cardiomyopathy. It allows to do something similar to what is done in cancer – a more individualized patient management and targeted therapy for each case. It also gives an opportunity to provide a family monitoring and diagnose more quickly to those members who are carriers of the mutation.

Dilated cardiomyopathy is a disease characterized by progressive weakening and thickening of the heart muscle and can lead to heart failure and premature death. It is a genetically complex disease, as it is associated with variations in at least 40 genes, but in 50-60% of cases may have unknown origin, when young patient has the heart transplantation after of myocardial infarction.

Thanks to advances in molecular diagnostic systems, researchers sequenced the titin gene of 5,267 people, including healthy volunteers and patients with dilated cardiomyopathy, and analyzed the levels of the gene in tissue samples from the heart. And the data showed that this disease causing mutations occur at the end of the gene sequence, whereas in healthy volunteers, mutations tend to occur in areas of the gene that are not at the end of the protein, allowing follow gene remain functional. Mutations in the titin gene that render the protein is shorter or truncated. This is the most common cause of this disease. However, the truncation in the gene are common – about one in 50 people has one, and most of them are not harmful, so it was difficult to develop a useful genetic test to identify these patients.

Thanks to this data scientists now have a detailed understanding of the molecular basis of dilated cardiomyopathy and may use this information to detect relatives of patients and thus identify those at risk of developing the disease. In this sense this research will benefit patients with this disease.

The difficulties to investigate mutations of this protein is that they lay in one of the greatest human proteins. The study provides, for the first time, a complete list of mutations in the gene of titin; ie, which are associated with dilated cardiomyopathy and which are harmless, information that will be invaluable to the correct diagnosis and future treatment.

General Angina Symptoms and Atypical Signs in Women

What is angina? Because the symptoms of angina some women differ from usual angina signs? Discover how to recognize signs of angina, know when to start treatment of angina emergency.

Angina pectoris is a condition that indicates inadequate blood flow to the heart muscle. Angina is a symptom of coronary artery disease. There are several general or classic signs and symptoms of angina. Women sometimes experience different symptoms of angina than men do. It is essential for women to learn about the signs of typical angina and symptoms of variant angina females sometimes experience.

Angina usually manifests as chest pain, although this is not always the case. Angina symptoms usually occur when a person physically exerts him or herself. This is because the heart is forced to work harder. However, the symptoms of angina can also happen when a person is under emotional stress.

Signs of angina include  heaviness, chest pain that feels like pressure,  fullness and tightness. Rarely people may experience burning pain. Some persons feel angina pain in  back,  shoulders, arms,  jaw and abdomen. Other people having angina also experience  anxiety, nausea,  dizziness, difficulty breathing, sweating and fatigue.

Angina atypical signs and symptoms in women

Women are more likely to experience symptoms of atypical angina. Instead of angina chest pain that feels like pressure or tightness, women sometimes describe their chest pain as sharp, acute, or pulsating. Female breast pain is also often less intense than men. Some women experience no chest pain at all and instead experience nausea, indigestion and breathlessness. Women more often than men, experience the pain of angina in body areas other than the chest, like the chin, arms, shoulders or back.

Diagnosis of angina pectoris and when it is a medical emergency

Whenever a person starts to feel chest pain, he or she should consult a doctor. If the doctor diagnoses a person with angina, your doctor may prescribe medication and lifestyle changes to help the patient keep the condition under control. After diagnosis, an individual must monitor their condition and report any changes to the doctor. Chest pain that is unexpected occurs during rest, is more intense than normal, is not relieved by rest and medication for angina, or worsening may signal a heart attack. Seek medical attention immediately.

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