PLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASE
PLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASEPLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASE
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3a-1. Tetralogy of Fallot. (Legend.)A. PA chest radiograph shows normal heart size which is "boot-shaped" (from coeur-en-sabot, literally translated boot shaped). There are diminished pulmonary vascular markings and a prominent left sided aortic arch (indentation in left of trachea).
B. Right anterior oblique views shows upturned apex and decreased pulmonary vascular markings.
A. PA chest radiograph of a nine month old infant demonstrating normal cardiothoracic ratio with a boot-shaped heart, with decreased pulmonary vascular markings and a right aortic arch, which is present is 25% of children with tetralogy.
Tetralogy of Fallot, although previously described was detailed by Fallot in 1888 as part of a group of lesions he termed "maladie bleue". Tetralogy sequence consists of a ventricular septal defect (usually conoventricular), overriding of the aorta, pulmonary stenosis and right ventricular hypertrophy. The presence of "anterocephalad" deviation of the outlet ventricular septum defines this entity and gives rise to infundibular pulmonary stenosis as well as overriding of the aorta. Pentalogy of Fallot is tetralogy with co-existent atrial septal defect (as high as 82%). Other associated anomalies include the left anterior descending coronary artery running anterior to the right ventricular outflow tract, atrioventricular septal defect, left SVC to coronary sinus, aortopulmonary collaterals, supravalvular mitral stenosis, subaortic stenosis, hypoplasia or absence of a pulmonary artery and a right sided aortic arch. The presence of a right aortic arch is of practical importance to the surgeon as this determines the side of thoracotomy when performing a shunt procedure. A standard modified Blalock-Taussig shunt is performed on the contralateral side to the arch while a classic BT shunt (direct anastomosis of the subclavian artery to the pulmonary artery) is performed on the ipsilateral arch side.
Note: Tetralogy of Fallot may have a normal radiographic appearance particularly in "pink Tets" who have adequate pulmonary circulation either because of minimal right ventricular outflow tract obstruction or because of co-existent aorto-pulmonary collaterals. Indeed some patients may have evidence of clinical overcirculation secondary to excessive aorto-pulmonary collateral blood flow, manifested by high saturations and increased pulmonary markings on chest film. Individual cardiovascular lesions may represent heterogenous physiological entities and individual attention to clinical and radiographic features is vital to appropriate management. For example to shunt an infant with tetralogy with increased pulmonary blood flow would be catastrophic. Hence patients need to be assessed physiologically rather than as disease categories.
Understanding The Genetics Of Congenital Heart Defects
Congenital heart defects are one of the leading causes of infant death worldwide.ILYA NAYMUSHIN/REUTERS / ALAMY STOCK PHOTO
One of the largest international genetic studies of congenital heart disease (CHD) highlights the significance, in particular forms of the disease, of spontaneous gene mutations not inherited from parents.
Congenital heart defects develop in the womb and are the most common cause of birth defect-related infant death worldwide, affecting approximately one in every 100 newborns. Several CHD-associated genes have been identified, but other factors, such as maternal diabetes or taking anticoagulant or antiepileptic medications during pregnancy, have been shown to slightly increase the risk of CHD.
To shed more light on the genetic basis of CHD inheritance, Matthew Hurles at the Wellcome Trust Sanger Institute in Cambridge, UK and colleagues sequenced the protein-coding part of the genome of 1,891 children with CHD and their parents. Patients were recruited from medical centres in the UK, US, Canada, Germany, Belgium and Saudi Arabia.
Their findings, published in Nature Genetics, provide the first clear evidence of genetic differences between two forms of the disease.
In syndromic CHD, where the disease is one among several developmental problems, such as abnormalities in other organs or an intellectual disability, the defects were found to be more likely due to new mutations that aren't inherited from the parents.
But, children with isolated defects of the heart, known as non-syndromic CHD, did not have such spontaneous mutations and often inherited damaging gene variants from their healthy parents.
The authors also describe three new rare syndromic CHD disorders caused by new mutations in genes not previously associated with CHD. Establishing the function of these genes will shed further light on important biological mechanisms involved in normal embryonic development.
These findings could be useful in the design of future genetic studies. To determine the most dominant CHD-associated genes, studies of non-syndromic CHD patients, which make up 90 percent of CHD patients worldwide, will benefit from sequencing the genomes of parents and unaffected siblings.
Understanding the potential causes of CHD not only accelerates research into disease mechanisms and possible therapies, it also helps physicians give more accurate advice to parents about their chances of having a second child with the disease. "These findings have an immediate and direct impact on how patients are counselled, on family planning and on prenatal diagnosis," explains molecular pathologist Saeed Al Turki of King Abdulaziz Medical City in Riyadh.
What To Know About Cyanotic Heart Disease
Cyanotic heart disease refers to a group of heart problems that occur at birth. The condition can cause abnormally low oxygen levels in the blood and lead to a bluish skin color.
Congenital heart disease refers to conditions that cause heart problems at birth, including heart defects (abnormalities).
The Centers for Disease Control and Prevention (CDC) estimates that congenital heart defects affect around 1% of births annually in the United States. Around 1 in 4 of these cases will be critical and require surgery or another procedure within the first year of life.
Of infants with congenital heart disease, around 25% have cyanotic heart disease. If a person gives birth to a baby with congenital heart disease, the risk of congenital heart disease and cyanotic heart disease increases during a second pregnancy.
This article discusses the symptoms, causes, and treatments for cyanotic heart disease.
Congenital heart disease can be cyanotic or noncyanotic. In cyanotic heart disease, the heart pumps blood out to the body without enough oxygen from the lungs.
The low oxygen blood levels cause the skin to turn a bluish color. Noncyanotic heart disease is where a birth abnormality is present without low oxygen levels in the blood.
Cyanotic heart disease causes the skin to turn blue due to the spread of low-oxygen blood. Blue skin may be particularly noticeable on the:
Other symptoms can include:
Cyanotic heart disease results from red, oxygenated blood mixing with blue, deoxygenated blood.
The heart pumps blood from its right side to the lungs, where it collects oxygen and returns to the left side of the heart. The heart then pumps oxygen-rich blood from the left side of the heart to the rest of the body.
Blood normally returns to the heart on the right side after delivering oxygen around the body.
However, cyanotic heart disease causes disruptions to this process whereby the left side of the heart pumps out low oxygen blood to the body.
Several conditions can cause these disruptions, including heart valve abnormalities. The heart valves control the flow and direction of blood into the heart.
Some examples of heart abnormalities include:
These conditions develop in the womb, which means they are sometimes the result of genetic inheritances.
Other factors that affect pregnancy, such as an infection or diabetes in the pregnant person, can also cause these conditions.
Smoking and taking certain medications during pregnancy also increase the risk of heart abnormalities.
There are three subtypes of cyanotic heart disease:
Doctors may diagnose cyanotic heart disease before birth using a fetal echocardiogram. After delivery, areas of blue skin around the body may indicate the disease. Doctors may order additional tests to confirm the diagnosis. Examples include:
Almost a quarter of infants born with cyanotic heart disease will need life-sustaining surgery or other medical treatment.
Treatment may involve:
The outlook for people diagnosed with cyanotic heart disease depends on several factors, including early detection and treatment. This is a serious condition that may require invasive and immediate treatment, such as surgery.
Around 75% of babies with cyanotic heart disease survive their first year, and 68% survive until age 18.
Possible complications of the disease include:
Cyanotic heart disease refers to conditions that cause low oxygen blood to circulate around the body.
Several heart abnormalities and conditions can cause oxygen-rich blood to mix with oxygen-free blood, resulting in abnormally low oxygen levels. The condition causes the skin to turn blue and requires early treatment to help prevent serious complications.
Doctors may prescribe various medications and other treatments to manage cyanotic heart disease. Some infants require surgery to address heart abnormalities and prevent long-term damage or death.
Cyanotic heart disease is a serious condition, but with timely treatment, many infants survive.
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