Tuesday, February 19, 2013

Tetralogy of Fallot


Tetralogy of Fallot is a type of heart defect present at birth (congenital) consisting of four different abnormalities. It usually results in insufficiently oxygenated blood being pumped to the body causing cyanosis (bluish discoloration of the skin). The classic form of Tetralogy includes 4 defects within the heart structures: Ventricular septal defect (hole between the right and left ventricles). Narrowing of the pulmonic outflow tract (tube that connects the heart with the lungs). An aorta (tube that carries oxygenated blood to the body) that arises from both ventricles, rather than exclusively from the left ventricle. A thickened muscular wall of the right ventricle (right ventricular hypertrophy).

Occurs in less than 1 in 2000 live births. Nonetheless, Tetralogy of Fallot is the most common cyanotic congenital heart defect.

The aetiology (origins) of congenital heart defects is not understood but several factors are known to be associated:(1) Maternal drug abuse, alcohol abuse and radiation exposure.(2) Maternal infection during pregnancy (particularly rubella.)(3) Genetic abnormalities.(4) Chromosomal abnormalities (septal defects are common with Trisomy 21- Down's syndrome.)

As the aorta overlies the VSD, it receives blood from the right ventricle and the left ventricle. This causes circulation of deoxygenated blood and central cyanosis (bluish discoloration). The high right ventricular pressure, caused by the outflow obstruction, facilitate this. Because less blood goes through the pulmonary circulation, cyanosis is independant of pulmonary hypertension (in contrast to Eisenmenger's syndrome).

Chest x-ray: a large right ventricle and small pulmonary arteries may be present. ECG: shows evidence of right ventricular hypertrophy (large right heart).Full Blood Picture: haemoglobin, haematocrit, and red blood cell count are usually elevated, depending on the degree of arterial oxygen desaturation.

With the advancement of surgical technology and increased medical management, the prognosis for Tetrlogy of Fallot is quite good. Over 95% of patients with simple Tetralogy of Fallot go on to live beyond 20 years of age.

Tetralogy of FallotComplete surgical correction of the Tetralogy is possible and is mandatory for long-term survival of these patients. Beta blocker medication can be used to help with hypoxic spells while the patient awaits definitive surgical intervention. To the right is an image of the afflicted area post operative:

[1] Anderson et al. Paediatric Cardiology. Churchill Livingstone 1987.[2] Behrman, Kliegman, Jenson. Nelson Textbook of Paediatrics 17th Ed. Saunders 2004.[3] Hurst's The Heart 8th Edition, McGRAW-HILL 1994.[4] Kumar and Clark, Clinical Medicine 4th Edition, W.B SAUNDERS 1998.[5] Robinson MJ., Roberton DM. Practical Paediatrics 4th Edition. Churchill Livingstone 1999.[6] Rudolph et al. Rudolphs's Paediatrics (21st edition). McGraw-Hill 2003.


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Tricuspid Valvular Disease


Tricuspid Valvular Disease is a disease of the heart, namely the tricuspid valve between the right ventricle and right atrium. Tricuspid Valvular Disease

These valvular lesions are rare, particularly in isolation.

Tricuspid stenosis (TS) is usually due to rheumatic fever and is usually seen in association with left heart valve disease. TS is also sometimes associated with carcinoid syndrome. Tricuspid regurgitation (TR) is usually secondary to right ventricular dilatation as in pulmonary vascular disease. Primary TR is less common and usually caused by rheumatic heart disease or infective endocarditis (heart valve infection).

TS: Causes a reduction in cardiac output that is compensated for by right atrial hypertrophy. Eventually, the back pressure causes a syndrome of right heart failure. TR: causes a volume over load of the right heart with dilatation of the right atrium. Right heart failure ensues. Atrial arrhythmias, particularly atrial fibrillation are common due to the dilatation of the right atrium.

Chest x-ray may show an atrial bulge in either condition. An ECG may show evidence of right atrial hypertrophy with tall peaked p-waves.

The prognosis of tricuspid valve disorders is good. Right heart failure should be treated with standard measures. Surgical replacement of the valves may be necessary to improve symptoms and prevent irreversible cardiac changes that arise which long term cardiac dysfunction.

Medical treatment of complications such as right heart failure (diuretics, salt restrictions). Surgical options such as valve replacements are sometimes necessary for more severe disease.

Hurst's The Heart 8th Edition, McGRAW-HILL 1994. Kumar and Clark Clinical Medicine 4th Edition, W.B SAUNDERS 1998.
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Rheumatic Fever Rheumatic Heart Disease


Rheumatic fever is an inflammatory disease which may develop after an infection with streptococcus bacteria (such as strep throat or scarlet fever) and can involve the heart (especially the valves), joints, skin, and brain.

Rare in developed countries such as the UK, the US and Australia. Incidence has declined from 10% of children in the 1920's to 0.01% of children today. This drop in incidence reflects advances in infection control and treatment of streptococcal infections with antimicrobials. The disease is still common in developing nations such as the Middle and Far East and South America.

Rheumatic fever is preceded by a throat infection with group A streptococcus organsisms.

Following a group A streptococcus pharyngeal infection, usually in childhood (5-15yo) is followed by a systemic syndrome thought to be caused by an autoimmune response triggered by the infection. The systemic syndrome includes:1) Polyarthritis (multiple join pain and inflammation)2) Carditis (heart inflammation) 3) Skin manifestations 4) Nervous system manifestations5) Fever, joints pains etc.About 50% of patients who develop carditis during the initial phase of the illness will go on to develop long term rheumatic heart disease and associated valvular heart disease.

1) Blood tests: ESR and CRP (non-specific markers of inflammation), leukocytosis2) Chest x-ray: may show evidence of carditis, pericarditis, pericardial effusion.3) ECG: may show evidence of carditis (prolonged P-R interval) or of pericarditis (saddle shaped ST segment elevations).

Some parts of the acute clinical syndrome may recur after the intial episode. However the prognosis for the joint disease, skin disease and nervous system disease associated with rheumatic fever is excellent with no known long term sequelae. Rheumatic heart disease has traditionally been hailed the major causative factor in valvular heart disease and carries the associated morbidity and mortality.

Residual strep infection should be treated with a single intramuscular dose of 916mg of benzylpenicillin. Rest is important. The acute syndrome is treated with high dose aspirin therapy to the limit of tolerance as judged by the development of tinnitus. If carditis is present, steroid therapy may play a role in reducing progression to chronic rheumatic heart disease. Subsequent strep infections should be treated promptly.

[1] Hurst's The Heart 8th Edition, McGRAW-HILL 1994.[2] Kumar and Clark Clinical Medicine 4th Edition, W.B SAUNDERS 1998.[3] MEDLINE Plus.


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Monday, February 18, 2013

Deep Vein Thrombosis (DVT)


Deep Vein Thrombosis is the formation of a blood clot in one of the deep veins of the body. DVT clots usually occur in those deep veins within the leg, particularly within the calf muscles. The veins in the arm, eye or brain may also rarely be affected. Deep vein thrombosis is quite rare, affecting approximately one or two people in every thousand, mainly older people.

The true incidence of deep vein thrombosis is not entirely known as many studies have not been accurate nor conclusive to date. However, overall it is thought approximately 80 cases of deep vein thrombosis occur per 100,000 persons occur annually. The incidence of deep vein thrombosis in the hospitals is much higher, especially in surgical patients. This is thought to be related to long periods of immobilisation which encourage the blood the clot.

Unlike arterial emboli, DVTs often occur in structurally normal vessels. They frequently develop due to stasis of blood (for example cardiac failure) or hypercoaguable states.4 Previous history of venous thromboembolic disease is a key risk factor for DVT. Other important risk factors are listed below:

Increasing age. Family history. Drugs- Synthetic oestrogens in the oral contraceptive pill, Tamoxifen or hormone replacement therapy increase patient's risks of DVT. Pregnancy and the puerperium. Recent surgery or trauma- Pelvic and orthopaedic surgeries (e.g. hip) are particularly high risk.5 Clotting disorders- Thrombophilia, Protein C or S deficiency, Anti-thrombin deficiency and Antiphospholipid syndromes have all been associated with increased rates of DVT.4 Malignancy. Obesity. Smoking. Varicose veins. Periods of immobility- This includes long air travel.6 Reduced physical activity reduces the muscular mechanisms that aid venous return to the heart.


The single most important risk factor for deep vein thrombosis is a prior history of DVT or pulmonary embolism (PE). However, if any of your first-degree relatives (parents or siblings) has had a clot, you are also at higher risk. The reason for this is that an inherited blood factor imbalance that causes increased susceptibility to clotting. Deep vein thrombosis post-surgery patients continue to be at risk for several months after surgery, as do women after delivery of their baby. One study also found that people with varicose veins and older people were at greater risk of deep vein thrombosis. The more risk factors you have, the greater your chances of clotting.


Additional risk factors:

Recent surgery. Smoking. A malignancy. Taking synthetic hormone replacement therapy or oral contraceptives. Being obese or pregnant.

Deep vein thrombi usually develop when there is a reduction in the amount of blood flow (called stasis) or there is an increased clotting tendency (either inherited or acquired). The thrombi can grow by clumping more red blood cells and fibrin together. Occasionally the thrombus can obstruct the vessel involved or parts can break off ans spread to the rest of the vasculature.

DVT often presents as a painful or aching calf. You may also notice some redness, swelling or warmth over the area. These deep vein thrombosis symptoms are serious so you should always obtain medical advice as dislodgement of a clot to elsewhere in the body can be life-threatening. Your doctor will ask you several questions about the pain and possible risk factors for DVT such as travel, surgery and drug use.

Deep Vein Thrombosis (Deep Venous Thrombosis, DVT) The principal clinical features of DVT include: Leg pain in one leg only- Felt as an ache or tightness in the calf. Leg tenderness in one leg only. Acute diffuse swelling (oedema) of only one leg. Changes in skin color of one leg, eg. redness. Increase in the warmth of one leg. Mild fever. Increased pain or resistance on dorsiflexion of the foot (Homan's sign)- This is not a reliable sign and generally should not be performed due to risks of dislodging the thrombus.5,6Your doctor will carefully examine your leg looking for: Tenderness or pain within the calf. Swelling of the limb. Redness. Warmth.They may check if bending your foot up is painful (a sign of DVT) but there are risks of dislodging the clot associated with this manoeuvre.

Investigations for deep vein thrombosis inculde: Blood tests- A particular test called a D-Dimer is performed which measures a breakdown product of clots. If this test is negative it can rule out DVT. However, a positive test result is not always reliable because other things like infection, pregnancy and cancers can also cause it to rise. Therefore if the test is positive more specific investigations are needed such as: Venography- This is probably the most reliable test for detecting clots in the veins. For this procedure a radiologist will inject contrast material into a vein on the top of the foot. This spreads through the veins and shows up on an x-ray. The clot area will be seen as a defect in the contrast. The venography is reasonably accurate, but it is also a costly and painful procedure. Moreover, the irritation of the vein by the contrast material may in itself contribute to the formation of new clots. Ultrasonography is a less invasive test that is also quite reliable detecting clots. Ultrasound works by emitting sound waves that can determine the flow of blood within the vessels. The clogged veins are easily distinguished on color pictures produced by this method. This method is painless, no foreign material is injected, and no radiation is required. The method is also cheaper than venography, but it is less accurate at detecting thrombi in smaller veins within the calf. Computed tomography or Magnetic Resonance Imaging may also occasionally be used.The doctor may do additional tests to determine if you have a clotting disorder. This involves a series of blood tests looking for abnormal levels of some proteins in the blood. This is particularly important for patients with recurrent deep vein thrombosis family history of DVT or cases where there is no obvious cause (such as recent surgery or immobilisation) for the clot forming.

The majority of deep vein thrombosis will disappear without any complications, however there is a significant risk for recurrence. Pulmonary embolus is uncommon when deep vein thrombosis are treated properly but they can occur and can be life threatening.


Complications:

If left untreated, deep vein thrombosis can cause a lot of pain and discomfort. DVT can also lead to varicose veins and certain other irreversible changes in the skin and the tissue. If the thrombus gets detached from the site it can lead to pulmonary embolism. Deep vein thrombosis can lead to non-healing venous ulcers.

Treatment of deep vein thrombosis largely aims to prevent the development of a pulmonary embolus (a clot in the lung) as this can be a life-threatening condition. To do this doctors will aim to reduce the size of the clot using anticoagulant (blood thinning) medications.

The first main deep vein thrombosis treatment is called heparin which can be given through a vein in the arm. This results in almost immediate anticoagulation and treatment of the clot. For this treatment you need to stay in hospital so your APTT can be measured in the blood. This basically is a measure for how well your blood clots which indicates if the drug is working or not.

Heparin is also available as an injection under the skin and this can be given on an out-patient basis. This type of heparin is called low-molecular- weight heparin (such as enoxaparin) and has the advantage of more predictable actions. A standard dose can be given based on your weight and monitoring is not needed.

Along with heparin an oral medication called warfarin is given. Because warfarin usually takes several days to reach effectiveness (until it reaches a therapeutic level), the heparin is continued until the warfarin is able to be effective. The effect of warfarin is also monitored using another blood test called the INR. When this reaches approximately 2.5 for two days in a row, the heparin can be stopped. Heparin needs to be given for at least five days. Warfarin is continued for around 3-6 months to prevent further clot formation. INR needs to be continually monitored because there is a risk of bleeding when the dose gets too high.

Other treatments for DVT included pressure stockings and early mobilisation. These help prevent pooling of blood within the legs. In some patients who have pulmonary emboli or that can't take anticoagulant medications, a filter may be need to be inserted into the inferior vena cava. This is the main vein returning blood from the lower part of the body to the heart and lungs. The filter traps blood clots before they can enter the lungs. All patients who are at risk for DVT (e.g. pregnant, elderly, clotting disorder) will require special preventative methods during hospital visits or surgery. This includes wearing the pressure stockings, physiotherapy, early ambulation and calf compressors during surgery. Around the time of surgery patients will also be given regular heparin to prevent clot formation.

Anderson DR. Wells PS. Stiell I. MacLeod B. Simms M. Gray L. Robinson KS. Bormanis J. Mitchell M. Lewandowski B. Flowerdew G. Management of patients with suspected deep vein thrombosis in the emergency department: combining use of a clinical diagnosis model with D-dimer testing. Journal of Emergency Medicine 2000; 19(3):225-30. Gallus A, Baker R, Chong B, Ockelford P, Street A. on behalf of the Australasian Society of Thrombosis and Haemostasis. Consensus guidelines for warfarin therapy. MJA 2000; 172: 600-605. Hirsh J. Warkentin TE. Shaughnessy SG. Anand SS. Halperin JL. Raschke R. Granger C. Ohman EM. Dalen JE. Heparin and low-molecular-weight heparin: mechanisms of action, pharmacokinetics, dosing, monitoring, efficacy, and safety. Chest 2001; 119: 64S-94S. Kumar, Clark. Clinical Medicine. 5th Edition. Saunders. 2002. Longmore, Wilkinson, Rajagopalan. Oxford Handbook of Clinical Medicine. 6th Edition. Oxford University Press. 2004. Murtagh J. General Practice. 3rd Edition. McGraw-Hill Australia. 2003. Tovey C, Wyatt S. Diagnosis, investigation, and management of deep vein thrombosis. BMJ 2003; 326: 1180-1184.
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Arrhythmia


Arrhythmia image Arrhythmia is a condition characterised by the heart's failure to contract or beat at the correct time. Some people are able to feel an arrhythmia when it happens, while others cannot. Arrhythmias can be divided into two main groups: tachyarrhythmias, where the heart beats faster than normal; and bradyarrhythmias, where the heart beats slower than normal.


Tachyarrhythmias include:


Bradyarrhythmias include:

The occurance of arrhythmia is common; as many as 2.2 million Americans are living with atrial fibrillation (one type of arrhythmia). A recent study has also suggested that 1 in 4 Adult Americans over the age of 40 could develop an irregular heartbeat.

Heart disease (coronary artery disease): The coronary arteries are blood vessels that surround the heart and carry oxygenated blood to the hard-working heart muscle that is performing the pump function for itself and the rest of the body. Blood is also necessary to maintain a biologically sound electrical conduction system within the heart. Cardiac valvular disease: Deposits in the cardiac valves can also involve the heart wall between the 2 large pumping chambers - the ventricles. Without the unrestricted use of the valves, regular heart rate becomes difficult at best. Heart failure: Heart failure results in the inability of the heart to efficiently and consistently pump, causing excess fluid to collect in the legs and lung. Conductive tissue disease: A number of diseases can cause excessive amounts of substances to circulate in the bloodstream, including proteins and calcium. These substances may be deposited in different locations including the kidneys, connective tissue, and the specialized conducting tissues in the heart. When these deposits do form, the conducting tissue may become abnormal in turn affecting heartbeat. Ingested substances: Caffeine, tobacco, alcohol, cocaine, amphetamines, certain over-the-counter medications such as some cold medications, and prescribed medications may contribute to arrhythmia. Most of these substances act as artificial stimulants. Physical or psychological demands placed upon the heart due to exercise, fatigue and stress. These demands generate a cariety of hormones and stimulants which are common in people with irregular heartbeats.

Symptoms include:

A sensation of feeling ones own heart beat (palpitations); Fainting; Light-headedness, dizziness; Chest pain; Shortness of breath; Paleness; Temporarily absence of ability to breath.Blood tests may be done in an attempt to idenitfy the cause of the arrhythmia;ECG;Chest x-ray;Ambulatory cardiac monitoring;Echocardiogram.

The outcome is dependent on several factors:

The form the arrhythmia takes;Whether it is an atrial arrhythmia (originating from the atrium) or a more dangerous arrhythmia such as ventricular tachycardia or ventricular fibrillation, which are potentially fatal;The overall pumping ability of the heart. In other words, the percentage of blood that the heart pumps from the ventricles to the body with each beat; andThe individual patient's health.

When an arrhythmia is serious, there may be insufficient bloodflow to the body's vital organs, such as the brain, kidneys and the coronary arteries of the heart. When these cases exist, treatment is urgent and may include electrical "shock" (defibrillation or cardioversion), the implantation of a temporary pacemaker to interrupt the arrhythmia by making the heart beat faster (overdrive supression), or the immediate administration of intravenous medications.

For long-term treatment of arrhythmias, daily medications become part of everyday life. These include antiarrhythmic medications, medications to increase or decrease heart rate and others. Over the past decade, life-threatening arrhythmias have been increasingly treated with an implantable cardioverter-defibrillator (ICD). As soon as an arrhythmia begins, the ICD can detect it and send an automatic electrical shock to terminate it, or it can activate a pacemaker function to overdrive the arrhythmia.

Arrhythmia [online]. Dallas, TX: American Heart Association; 1998 [cited 15 September 2004]. Available from: URL linkArrhythmia [online]. Washington DC: American College of Cardiology; 2004 [cited 15 September 2004]. Available from: URL linkArrhythmias [online]. Omaha ,NE: eMedicine; 2004 [cited 15 September 2004]. Available from: URL link
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Aortic Stenosis (AS)


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Aortic Regurgitation (AR)


Aortic regurgitation is reflux of blood from the aorta (the big vessel carrying blood out of the heart). The problem occurs when some of the blood pumped out falls back into the heart, because of an incompetent aortic valve which would normally stop this from happening.

The disease increases in incidence with increasing age and the vast majority of people over 80 years of age show evidence of regurgitation on testing with or without symptoms. The disease occurs more commonly in men, but the majority of patients with rheumatic AR are women.

The major predisposing factors are:

Rheumatic heart disease, syphilis;Damage to the cusps of the valve secondary to infective endocarditis;Any primary cause of aortic stenosis (progressive narrowing of the aortic valve) can lead to AR when the valve cusps become fixed and can not close adequately any longer.


Rarer associations include:

The reguritation of blood back into the left ventricle of the heart leads to dilatation of the ventricle. This reflects and attempt to maintain heart output by increasing the volume of blood being pumped out. This dilatation leads eventually leads to cardiac failure.

Left ventricular dilatation also decreases the amount of blood entering the heart causing angina and can also cause atrial fibrillation, infective endocarditis and mitral regurgitation. However, there are frequently no clinical symptoms until the onset of ventricular failure.

Clinical suspicion should dictate:

Compensation usually prevents the disease from becoming symptomatic for many years. As many as 85-95% of patients with mild-moderate regurgitation will live another 10 years. However after the onset of symptoms of heart failure, there is a fairly rapid deterioration within a couple of years.

General

Treatment of underlying causes- such as syphilis and infective endocarditis. Antibiotic prophylaxis agains development of infective endocarditis should also be used.


Specific

Surgical replacement of the valve should be undertaken but timing of the operation is important. Because a significantly enlarged heart will not recover completely, the operation should take place before the development of severe disease. Any heart failure should be treated with drug regimes.

Schlant RC, Alexander RW, Fuster V (eds). Hurst's The Heart (8th edition). New York, NY: McGraw-Hill; 1994. [Book]Kumar P, Clark M (eds). Clinical Medicine (4th edition). Edinburgh: WB Saunders Company; 1998. [Book]
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