Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”. This gene holds the information to make a protein known as “fibrillin-1”. This protein is responsible for repairing tissues and controlling the growth throughout the body. The FBN1 gene is responsible for this mutation. This gene can reduce the amount of healthy fibrillin-1 proteins, thus resulting in instable tissues
Heart failure occurs when the heart cannot pump enough blood for the body due to a weakened or damaged heart. The heart 's pumping action moves oxygen-rich blood as it travels from the lungs to the left atrium, then on to the left ventricle, which pumps it to the rest of the body. The left ventricle supplies most of the heart 's pumping power, so it 's larger than the other chambers and essential for normal function. (American Heart Association). In left-sided or left ventricular heart failure, the left side of the heart must work harder to pump the same amount of blood. There are two types of left-sided heart failure: systolic heart failure and diastolic heart failure. Heart failure can arise from
Pediatric interventional cardiology is a passion and a dream which I hope one day to realize. During my first pediatric residency training, I realized the depth of my interest in cardiology. I found pleasure and interest in all the pediatric cardiology rotations; however, cardiac catheterization, despite the limited sophistication with which it was performed, captivated me. As there were no training opportunities available back home and few interventional procedures can be done due to lack of experience in congenital interventional cardiology. Therefore, I decided to pursue a second pediatric residency training in the USA to allow me the opportunity for further training in pediatric cardiology and eventually congenital cardiac intervention.
An atrioventricular septal defect is a condition that results in a defect located in the middle of the heart. The condition takes place when a hole forms between the heart 's atrium and ventricular chambers. This defect causes complications and makes it difficult for the mitral valve to regulate blood flow in the heart. The deregulation of blood flow affects the lungs by allowing extra blood to flow into the organs. The heart then has to overwork itself in order to pump this extra blood out of the lungs and will cause the heart muscle to enlarge, leading to high blood pressure and even heart failure if left untreated. Atrioventricular septal defect is
Trisomy 18 is a common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs, short sternum and heart and kidney anomalies. The majority of these infants die within the first year of life; only 5% to 10% of them survive longer. Their death is primarily due to cardio-respiratory failure.
Phantom or vanishing tumor stands for a localized transudativeinterlobar pleural fluid collection in congestive heart failure. Pseudotumors commonly manifest as incidental radiographic findings in patients with disorders associated with pleural effusions, especially congestive heart failure. The name originates from its frequent resemblance to a tumor on the chest X- ray and from its tendency to vanish after appropriate management of heart failure .
Sudden cardiac arrest in the pediatric population is a rare occurrence, but it can be devastating. An understanding of the differential for the etiology of the cardiac arrest allows for more expedient and appropriate care and can lead to more favorable outcomes. Pediatric sudden cardiac arrest can occur with or without prodromal symptoms and may occur with or without exercise. The most common cause is arrhythmia that may be due to a channelopathy, cardiomyopathy, or myocarditis. After stabilization, evaluation should include EKG, chest radiograph, and echocardiogram if available. Management should focus on decreasing the potential for recurring arrhythmia, maintaining cardiac preload and close attention to medication use that could
Congenital heart disease is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and the veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.
Myocardial infraction (MI) or acute myocardial (AMI) well known as a heart attack, it happens when blood travels to the portion of the heart and this will end up causing the clotting of blood and the muscle of the heart suffers (Wood MA, Spores R, Natske LT, et al 1980). In explanation, the vsd evidently is caused when the walls of the ventricles fails to close appropriately through pregnancy and this will outcome in a high blood pressure owing to the is high volumes of blood flowing in and out of the heart.
Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular dysplasia1, 2, 3. It is manifested by mucocutaneous telangiectases and arteriovenous malformations (AVM). Lesions can affect the nasopharynx, central nervous system, lungs, liver, gastrointestinal tract and conjunctiva. Recurrent epistaxis is the most common presentation. Diagnosis of HHT is made clinically on the basis of the Curaçao criteria: epistaxis, telangiectasia, visceral lesions and family history1. The prognosis varies, depending on the severity of symptoms. Treatment is focused on prevention of complications and supportive measures.1, 4, 5
Introduction: Meconium aspiration syndrome is one of the most common causes of respiratory distress in neonates. It may happen during antepartum or intrapartum periods and can result in airway obstruction, defect in gas exchange of the lung , pneumonia and dysfunction of the surfactant . It occurs as a result of fetal hypoxia that leads to increasing peristalsis with anal sphincter relaxation and reflex gasping.
About one in every 33 babies in the United States is born with a birth defect. A birth defect, according to Kids Health, part of the Nemours Foundation’s Center for Children’s Health Media, is defined as abnormalities of structure, function, or body metabolism that are present at birth. It’s said that birth defects are one of the leading causes of infant death in the first year of life. Birth defects can range from mild to severe. MedlinePlus, The National Institute of Health’s website says that babies with birth defects may need to have surgery or other medical treatments. With as many birth defects there are in the world, many are still left unknown as to why they are still occurring. Birth defects can develop through substance abuse, infections in
Patient presented with hoarseness due to vocal cord paralysis secondary to cardiovascular pathology is an extremely rare entity, better known as cardiovocal syndrome or Ortner's syndrome. The common underlying pathology was described as an enlargement of the left atrium or recurrent laryngeal nerve compression by the pulmonary artery. We report a case of undiagnosed congenital heart disease in a young lady presented to the ear, nose and throat(ENT) clinic for hoarseness and the management of the patient. Even though hoarseness frequently encountered in the ear, nose and throat clinic, this is indeed a rare finding of hoarseness due to cardiovascular- related. Partial and complete resolution of the voice are reported in recent literature after treatment of the underlying cardiac pathology.
I chose the disease coarctation of the aorta, when I was six weeks old I had to receive a surgery to fix my heart. Coarctation of the aorta is the narrowing of part of the aorta, which is the major artery leading out of the heart. This disease is also consider a type of birth defect. The aorta carries blood from the heart to the vessels that supply the body with blood. If part of the aorta is narrowed, it will be difficult for blood to pass through the artery. Doctors can finally diagnosis to fix the problem of the aorta narrowing, which there is many causes, symptoms, and tests for the doctor to finally give a prognosis of the patient.