The presence of odynophagia in a patient with risk factors such as smoking and age is a concerning symptom that may indicate oesophageal cancer. In this case, the patient should be referred for a 2 week wait upper GI endoscopy and questioned about other symptoms such as difficulty swallowing, reflux, weight loss, and nausea. It would be inappropriate to reassure the patient and advise over-the-counter medications without further investigation. A chest x-ray is unlikely to show any clear oesophageal pathologies and a barium swallow is only useful if a benign pathology is suspected. As the patient has two features of oesophageal cancer and a smoking history, she should be worked up as a potential cancer patient. There are no emergency symptoms that warrant referral to the emergency department for same-day investigation and blood tests are unlikely to indicate malignancy in a clear and obvious manner.

Oesophageal Cancer: Types, Risk Factors, Features, Diagnosis, and Treatment

Oesophageal cancer used to be mostly squamous cell carcinoma, but adenocarcinoma is now becoming more common, especially in patients with a history of gastro-oesophageal reflux disease (GORD) or Barrett’s. Adenocarcinoma is usually located near the gastroesophageal junction, while squamous cell tumours are found in the upper two-thirds of the oesophagus.

Risk factors for adenocarcinoma include GORD, Barrett’s oesophagus, smoking, achalasia, and obesity. Squamous cell cancer is more common in the developing world and is associated with smoking, alcohol, achalasia, Plummer-Vinson syndrome, and diets rich in nitrosamines.

The most common presenting symptom for both types of oesophageal cancer is dysphagia, followed by anorexia and weight loss. Other possible features include odynophagia, hoarseness, melaena, vomiting, and cough.

Diagnosis is done through upper GI endoscopy with biopsy, endoscopic ultrasound for locoregional staging, CT scanning for initial staging, and FDG-PET CT for detecting occult metastases. Laparoscopy may also be performed to detect occult peritoneal disease.

Operable disease is best managed by surgical resection, with the most common procedure being an Ivor-Lewis type oesophagectomy. However, the biggest surgical challenge is anastomotic leak, which can result in mediastinitis. Adjuvant chemotherapy may also be used in many patients.

Overall, oesophageal cancer is a serious condition that requires prompt diagnosis and treatment. Understanding the types, risk factors, features, diagnosis, and treatment options can help patients and healthcare providers make informed decisions about managing this disease.

Common Chromosomal Abnormalities and Their Associated Conditions

45 XO is a chromosomal abnormality associated with Turner syndrome, which is characterized by sparse breast development, broad shoulders, high blood pressure, and a wide neck.

46 XY is the normal karyotype for men, but genetic abnormalities involving other chromosomes can still occur.

46 XX is the normal karyotype for women, but genetic abnormalities involving other chromosomes can still occur.

47 XXX is the chromosomal abnormality associated with triple X syndrome, which can be asymptomatic or result in learning difficulties, tall stature, or microcephaly.

47 XXY is the chromosomal abnormality associated with Klinefelter syndrome, which is characterized by tall stature, gynaecomastia, and infertility.

If a patient experiences a gradual decline in vision over several months, along with metamorphopsia and a central scotoma, it is highly likely that they have wet age-related macular degeneration (ARMD). This condition is characterized by a sudden deterioration in vision, red patches on the retina during fundoscopy, and leakage of serous fluid and blood. Acute angle-closure glaucoma, on the other hand, presents with severe headaches, vomiting, and mid-dilated or irregularly shaped pupils. Dry ARMD also causes a slow decline in vision, but it does not result in sudden deterioration or red patches on the retina. Retinal detachment causes a painless loss of vision that starts peripherally and progresses centrally, while vitreous hemorrhage is a common cause of sudden visual loss in diabetics, characterized by dark spots in the vision and a hemorrhage within the vitreous cavity during fundoscopy.

Age-related macular degeneration (ARMD) is a common cause of blindness in the UK, characterized by the degeneration of the central retina (macula) and the formation of drusen. It is more prevalent in females and is strongly associated with advancing age, smoking, family history, and conditions that increase the risk of ischaemic cardiovascular disease. ARMD can be classified into two forms: dry and wet. Dry ARMD is more common and is characterized by drusen, while wet ARMD is characterized by choroidal neovascularisation and carries a worse prognosis. Clinical features of ARMD include subacute onset of visual loss, difficulties in dark adaptation, and visual disturbances such as photopsia and glare.

To diagnose ARMD, slit-lamp microscopy and color fundus photography are used to identify any pigmentary, exudative, or haemorrhagic changes affecting the retina. Fluorescein angiography and indocyanine green angiography may also be used to visualize changes in the choroidal circulation. Treatment for dry ARMD involves a combination of zinc with anti-oxidant vitamins A, C, and E, which has been shown to reduce disease progression by around one third. For wet ARMD, anti-VEGF agents such as ranibizumab, bevacizumab, and pegaptanib are used to limit disease progression and stabilize or reverse visual loss. Laser photocoagulation may also be used to slow progression, but anti-VEGF therapies are usually preferred due to the risk of acute visual loss after treatment.

In summary, ARMD is a common cause of blindness in the UK that is strongly associated with advancing age, smoking, and family history. It can be classified into dry and wet forms, with wet ARMD carrying a worse prognosis. Diagnosis involves the use of various imaging techniques, and treatment options include a combination of zinc and anti-oxidant vitamins for dry ARMD and anti-VEGF agents or laser photocoagulation for wet ARMD.

Crohn’s disease and ulcerative colitis are the two main types of inflammatory bowel disease with many similarities in symptoms and management options. However, there are key differences such as non-bloody diarrhea and upper gastrointestinal symptoms being more common in Crohn’s disease, while bloody diarrhea and abdominal pain in the left lower quadrant are more common in ulcerative colitis. Complications and pathology also differ between the two diseases.

The presence of roughened red papules over the knuckles, known as Gottron’s papules, is indicative of dermatomyositis. This patient’s description of muscle weakness and associated skin changes suggests that she may have this condition. Bouchard’s and Heberden’s nodes, on the other hand, are associated with osteoarthritis and present as painless swellings of the proximal and distal interphalangeal joints, respectively. Macular lesions on the palms, such as Osler nodes and janeway lesions, are linked to endocarditis. Osler nodes are painful and caused by immune complex deposition, while janeway lesions are painless and caused by septic emboli.

Dermatomyositis is a condition that causes inflammation and muscle weakness, as well as distinct skin lesions. It can occur on its own or be associated with other connective tissue disorders or underlying cancers, particularly ovarian, breast, and lung cancer. Screening for cancer is often done after a diagnosis of dermatomyositis. Polymyositis is a variant of the disease that does not have prominent skin manifestations.

The skin features of dermatomyositis include a photosensitive macular rash on the back and shoulders, a heliotrope rash around the eyes, roughened red papules on the fingers’ extensor surfaces (known as Gottron’s papules), extremely dry and scaly hands with linear cracks on the fingers’ palmar and lateral aspects (known as mechanic’s hands), and nail fold capillary dilatation. Other symptoms may include proximal muscle weakness with tenderness, Raynaud’s phenomenon, respiratory muscle weakness, interstitial lung disease (such as fibrosing alveolitis or organizing pneumonia), dysphagia, and dysphonia.

Investigations for dermatomyositis typically involve testing for ANA antibodies, which are positive in around 80% of patients. Approximately 30% of patients have antibodies to aminoacyl-tRNA synthetases, including antibodies against histidine-tRNA ligase (also called Jo-1), antibodies to signal recognition particle (SRP), and anti-Mi-2 antibodies.

Clopidogrel: An Antiplatelet Agent for Cardiovascular Disease

Clopidogrel is a medication used to manage cardiovascular disease by preventing platelets from sticking together and forming clots. It is commonly used in patients with acute coronary syndrome and is now also recommended as a first-line treatment for patients following an ischaemic stroke or with peripheral arterial disease. Clopidogrel belongs to a class of drugs called thienopyridines, which work in a similar way. Other examples of thienopyridines include prasugrel, ticagrelor, and ticlopidine.

Clopidogrel works by blocking the P2Y12 adenosine diphosphate (ADP) receptor, which prevents platelets from becoming activated. However, concurrent use of proton pump inhibitors (PPIs) may make clopidogrel less effective. The Medicines and Healthcare products Regulatory Agency (MHRA) issued a warning in July 2009 about this interaction, and although evidence is inconsistent, omeprazole and esomeprazole are still cause for concern. Other PPIs, such as lansoprazole, are considered safe to use with clopidogrel. It is important to consult with a healthcare provider before taking any medications to ensure safe and effective treatment.

Women with a higher chance of Down’s syndrome based on combined or quadruple tests are offered further screening or diagnostic tests. In this case, the patient’s chance is 1 in 100, making non-invasive prenatal screening (NIPT) the most appropriate option. Amniocentesis and chorionic villous sampling (CVS) are less appropriate due to their invasive nature and higher risks.

NICE updated guidelines on antenatal care in 2021, recommending the combined test for screening for Down’s syndrome between 11-13+6 weeks. The test includes nuchal translucency measurement, serum B-HCG, and pregnancy-associated plasma protein A (PAPP-A). The quadruple test is offered between 15-20 weeks for women who book later in pregnancy. Results are interpreted as either a ‘lower chance’ or ‘higher chance’ of chromosomal abnormalities. If a woman receives a ‘higher chance’ result, she may be offered a non-invasive prenatal screening test (NIPT) or a diagnostic test. NIPT analyzes cell-free fetal DNA in the mother’s blood and has high sensitivity and specificity for detecting chromosomal abnormalities. Private companies offer NIPT screening from 10 weeks gestation.

The combination of beta-blockers and verapamil has the potential to cause severe bradycardia and asystole.

Beta-blockers are a class of drugs that are primarily used to manage cardiovascular disorders. They have a wide range of indications, including angina, post-myocardial infarction, heart failure, arrhythmias, hypertension, thyrotoxicosis, migraine prophylaxis, and anxiety. Beta-blockers were previously avoided in heart failure, but recent evidence suggests that certain beta-blockers can improve both symptoms and mortality. They have also replaced digoxin as the rate-control drug of choice in atrial fibrillation. However, their role in reducing stroke and myocardial infarction has diminished in recent years due to a lack of evidence. Examples of beta-blockers include atenolol and propranolol, which was one of the first beta-blockers to be developed and is lipid soluble, allowing it to cross the blood-brain barrier.

Like all drugs, beta-blockers have side-effects, including bronchospasm, cold peripheries, fatigue, sleep disturbances (including nightmares), and erectile dysfunction. They are contraindicated in uncontrolled heart failure, asthma, sick sinus syndrome, and concurrent use with verapamil, which may precipitate severe bradycardia.

Management of Fever in a High-Risk Child

When managing a child with fever, it is important to consider their age and any accompanying symptoms. According to the NICE guideline on ‘Fever in under 5s’, children aged <3 months with a temperature of 38°C are at high risk for serious illness. In such cases, it is recommended to refer the child urgently to a paediatric specialist. Encouraging fluids may be useful, but it should not be relied upon to rule out serious underlying illness. Similarly, antipyretics may be given before the child is seen by the paediatric team, but it is important to consult the NICE guideline for appropriate dosages. Blind prescription of oral antibiotics or IM benzylpenicillin is not recommended without a clear source of infection and discussion with the on-call paediatric team. Therefore, it is crucial to refer high-risk children to the paediatric on-call team for further management.

Understanding the CURB-65 Score for Mortality Prediction in Pneumonia

Pneumonia is a serious respiratory infection that can lead to mortality, especially in older patients. Several factors can increase the risk of death, including elevated urea levels, low blood pressure, leukopenia, and atrial fibrillation. To predict mortality in pneumonia, healthcare professionals use the CURB-65 score, which considers five parameters: confusion, urea >7 mmol/l, respiratory rate >30/min, systolic blood pressure <90 mmHg or diastolic blood pressure <60 mmHg, and age >65 years. Each parameter scores a point, and the higher the total score, the higher the associated mortality.

Based on the CURB-65 score, healthcare professionals can make informed decisions about treatment and admission to hospital. Patients with a score of 0 or 1 can be treated at home with oral antibiotics, while those with a score of 2 should be considered for hospital admission. Patients with a score of 3 or higher should be admitted to hospital, and those with a score of 4-5 may require high dependency or intensive therapy unit admission. However, individual circumstances, such as the patient’s performance status, co-morbidities, and social situation, should also be considered when making treatment decisions.

In summary, the CURB-65 score is a valuable tool for predicting mortality in pneumonia and guiding treatment decisions. By considering multiple factors, healthcare professionals can provide the best possible care for patients with this serious infection.

The primary cause of breast abscess in lactational women is Staphylococcus aureus, while Candida species is not a frequent culprit. On the other hand, Group B streptococcus and Klebsiella pneumoniae are responsible for breast abscess in non-lactating women.

Breast Abscess: Causes and Management

Breast abscess is a condition that commonly affects lactating women, with Staphylococcus aureus being the most common cause. The condition is characterized by the presence of a tender, fluctuant mass in the breast. To manage the condition, healthcare providers may opt for either incision and drainage or needle aspiration, typically using ultrasound. Antibiotics are also prescribed to help manage the infection.

Breast abscess is a condition that can cause discomfort and pain in lactating women. It is caused by Staphylococcus aureus, a common bacterium that can infect the breast tissue. The condition is characterized by the presence of a tender, fluctuant mass in the breast. To manage the condition, healthcare providers may opt for either incision and drainage or needle aspiration, typically using ultrasound. Antibiotics are also prescribed to help manage the infection. Proper management of breast abscess is crucial to prevent complications and ensure a speedy recovery.

For a patient with T2DM who is on metformin and has an HbA1c level of 58 mmol/mol, the most appropriate choice for a second antidiabetic agent is gliclazide, according to NICE guidelines and the patient’s clinical factors. Pioglitazone is not recommended due to the patient’s history of bladder cancer, and SGLT-2 inhibitors and GLP-1 receptor agonists are not appropriate in this case. Modified-release metformin is not recommended for improving HbA1c control. Dual therapy with a sulfonylurea, DPP-4 inhibitor, or pioglitazone is recommended by NICE once HbA1c is 58 mmol/mol or over on metformin, but the choice of agent depends on the individual clinical scenario.

NICE updated its guidance on the management of type 2 diabetes mellitus (T2DM) in 2022, reflecting advances in drug therapy and improved evidence regarding newer therapies such as SGLT-2 inhibitors. The first-line drug of choice remains metformin, which should be titrated up slowly to minimize gastrointestinal upset. HbA1c targets should be agreed upon with patients and checked every 3-6 months until stable, with consideration for relaxing targets on a case-by-case basis. Dietary advice includes encouraging high fiber, low glycemic index sources of carbohydrates and controlling intake of foods containing saturated fats and trans fatty acids. Blood pressure targets are the same as for patients without type 2 diabetes, and antiplatelets should not be offered unless a patient has existing cardiovascular disease. Only patients with a 10-year cardiovascular risk > 10% should be offered a statin, with atorvastatin 20mg as the first-line choice.

Loop diuretics have the potential to cause ototoxicity.

Loop Diuretics: Mechanism of Action and Indications

Loop diuretics, such as furosemide and bumetanide, are medications that inhibit the Na-K-Cl cotransporter (NKCC) in the thick ascending limb of the loop of Henle. This reduces the absorption of NaCl and increases the excretion of water and electrolytes, making them effective in treating conditions such as heart failure and resistant hypertension. Loop diuretics act on NKCC2, which is more prevalent in the kidneys.

As loop diuretics work on the apical membrane, they must first be filtered into the tubules by the glomerulus before they can have an effect. This means that patients with poor renal function may require higher doses to achieve a sufficient concentration within the tubules.

Loop diuretics are commonly used in the treatment of heart failure, both acutely (usually intravenously) and chronically (usually orally). They are also effective in treating resistant hypertension, particularly in patients with renal impairment.

However, loop diuretics can have adverse effects, including hypotension, hyponatremia, hypokalemia, hypomagnesemia, hypochloremic alkalosis, ototoxicity, hypocalcemia, renal impairment (from dehydration and direct toxic effect), hyperglycemia (less common than with thiazides), and gout.

In summary, loop diuretics are effective medications for treating heart failure and resistant hypertension, but their use should be carefully monitored due to potential adverse effects. Patients with poor renal function may require higher doses to achieve therapeutic effects.

Timolol, a beta blocker, is effective in treating primary open-angle glaucoma by reducing the production of aqueous fluid. This condition is characterized by increased intraocular pressure due to inefficient drainage of fluid in the eye’s trabecular meshwork. Symptoms include gradual loss of vision, particularly in the peripheral fields. Brimonidine, an alpha-adrenergic agonist, also reduces aqueous fluid production and increases uveoscleral outflow. However, drugs that decrease uveoscleral outflow or increase aqueous fluid production would worsen the patient’s condition. Glucocorticoids can cause reduced drainage of aqueous humour and are implicated in causing open-angle glaucoma. Latanoprost, a prostaglandin analogue, increases uveoscleral outflow.

Glaucoma is a condition where the optic nerve is damaged due to increased pressure in the eye. Primary open-angle glaucoma is a type where the iris is clear of the trabecular meshwork, which is responsible for draining aqueous humour from the eye. This results in increased resistance to outflow and raised intraocular pressure. The condition affects 0.5% of people over 40 years old and increases with age. Genetics also play a role, with first-degree relatives having a 16% chance of developing the disease. Symptoms are usually absent, and diagnosis is made through routine eye examinations. Investigations include visual field tests, tonometry, and slit lamp examinations. Treatment involves eye drops to lower intraocular pressure, with prostaglandin analogues being the first line of treatment. Surgery may be considered in refractory cases. Regular reassessment is necessary to monitor progression and prevent visual field loss.

The use of anti-epileptic medication during pregnancy is a complex issue due to the risk of severe congenital defects. Therefore, it is important to provide good contraceptive advice and planning to women of childbearing age who are taking these medications. However, in cases where a woman becomes pregnant while on anti-epileptic medication, it is crucial to seek medical advice as soon as possible.

According to recent guidelines from MBRRACE-UK and NICE, lamotrigine is the preferred medication for most women with epilepsy who are of childbearing age. In some cases, a dose increase may be necessary during pregnancy. Other medications such as phenytoin, phenobarbitone, and sodium valproate are known to have adverse effects on cognitive abilities and are generally avoided unless absolutely necessary.

For pregnant women with epilepsy, lamotrigine, carbamazepine, and levetiracetam are considered to have the least impact on the developing fetus. However, it is important for all pregnant women with epilepsy to receive specialist care and guidance throughout their pregnancy.

Pregnancy and breastfeeding can be a concern for women with epilepsy. It is generally recommended that women continue taking their medication during pregnancy, as the risks of uncontrolled seizures outweigh the potential risks to the fetus. However, it is important for women to take folic acid before pregnancy to reduce the risk of neural tube defects. The use of antiepileptic medication during pregnancy can increase the risk of congenital defects, but this risk is still relatively low. It is recommended to aim for monotherapy and there is no need to monitor drug levels. Sodium valproate is associated with neural tube defects, while carbamazepine is considered the least teratogenic of the older antiepileptics. Phenytoin is associated with cleft palate, and lamotrigine may require a dose increase during pregnancy. Breastfeeding is generally safe for mothers taking antiepileptics, except for barbiturates. Pregnant women taking phenytoin should be given vitamin K in the last month of pregnancy to prevent clotting disorders in the newborn.

A warning has been issued about the use of sodium valproate during pregnancy and in women of childbearing age. New evidence suggests a significant risk of neurodevelopmental delay in children following maternal use of this medication. Therefore, it should only be used if clearly necessary and under specialist neurological or psychiatric advice. It is important for women with epilepsy to discuss their options with their healthcare provider and make informed decisions about their treatment during pregnancy and breastfeeding.

The GCS score for this man is 6. His response to a painful stimulus (supraorbital pressure) is opening his eyes, which scores 2. His verbal response is groaning, which also scores 2. His motor response to pain is extension, which scores 2. Therefore, his overall GCS score is 6.

Understanding the Glasgow Coma Scale for Adults

The Glasgow Coma Scale (GCS) is a tool used to assess the level of consciousness in adults who have suffered a brain injury or other neurological condition. It is based on three components: motor response, verbal response, and eye opening. Each component is scored on a scale from 1 to 6, with a higher score indicating a better level of consciousness.

The motor response component assesses the patient’s ability to move in response to stimuli. A score of 6 indicates that the patient is able to obey commands, while a score of 1 indicates no movement at all.

The verbal response component assesses the patient’s ability to communicate. A score of 5 indicates that the patient is fully oriented, while a score of 1 indicates no verbal response at all.

The eye opening component assesses the patient’s ability to open their eyes. A score of 4 indicates that the patient is able to open their eyes spontaneously, while a score of 1 indicates no eye opening at all.

The GCS score is expressed as a combination of the scores from each component, with the motor response score listed first, followed by the verbal response score, and then the eye opening score. For example, a GCS score of 13, M5 V4 E4 at 21:30 would indicate that the patient had a motor response score of 5, a verbal response score of 4, and an eye opening score of 4 at 9:30 PM.

Overall, the Glasgow Coma Scale is a useful tool for healthcare professionals to assess the level of consciousness in adults with neurological conditions.

Dermatological Conditions: Characteristics and Differential Diagnosis

Atopic Eczema: This condition is characterized by an itchy rash with a predominantly flexural distribution, along with a history of asthma and dry skin. It is episodic in nature and typically starts in childhood. Atopic eczema is a clinical diagnosis, but investigations may be helpful to exclude differential diagnoses.

Irritant Eczema: This form of dermatitis is caused by exposure to irritants such as strong acids and alkalis. Symptoms and signs vary and may include stinging, burning, and chapping. Skin changes are usually restricted to the area in contact with the irritant. Avoidance of the causative agent usually leads to the resolution of symptoms within a few days.

Lichen Planus: This skin disorder is of unknown aetiology and mainly involves an itchy, papular rash commonly on the palms, soles, genitalia, and flexor surfaces of arms. The rash is often polygonal in shape, with a ‘white lines’ pattern on the surface. Management typically involves topical steroids.

Molluscum Contagiosum: This common skin infection is caused by the M. contagiosum virus and presents with characteristic pinkish or pearly white papules with a central umbilication. Lesions appear in clusters in areas anywhere on the body, except the palms of the hands and the soles of the feet.

Psoriasis: This chronic skin disorder typically presents with erythematous plaques covered with a silvery-white scale, occurring typically on the extensor surfaces such as the elbows and knees, as well as on the scalp, trunk, buttocks, and periumbilical area. There usually is a clear delineation between normal and affected skin, and plaques typically range from 1 cm to 10 cm in size.

Differentiating between medical conditions based on breath scent

When a comatose patient presents with a distinct scent on their breath, it can be a helpful clue in determining the underlying medical condition. The smell of acetone is strongly indicative of diabetic ketoacidosis (DKA), which is commonly seen in patients with poorly controlled type I diabetes. In contrast, alcohol intoxication produces a scent of alcohol rather than a fruity odor. Diabetic hyperosmolar coma, typically seen in older patients with type II diabetes, does not produce a specific scent as there is no acetone production. Heroin overdose and profound hypoglycemia also do not result in a distinct breath scent. Understanding the different scents associated with various medical conditions can aid in prompt and accurate diagnosis.

Seborrhoeic dermatitis is typically characterized by a scaly rash around the peri-orbital and nasolabial areas, as well as dandruff. The recommended initial treatment is topical ketoconazole.

Understanding Seborrhoeic Dermatitis in Adults

Seborrhoeic dermatitis is a chronic skin condition that affects around 2% of the general population. It is caused by an inflammatory reaction related to the overgrowth of a fungus called Malassezia furfur, which is a normal inhabitant of the skin. The condition is characterized by eczematous lesions that appear on the sebum-rich areas of the body, such as the scalp, periorbital, auricular, and nasolabial folds. It can also lead to the development of otitis externa and blepharitis.

Seborrhoeic dermatitis is often associated with other medical conditions, such as HIV and Parkinson’s disease. The management of the condition depends on the affected area. For scalp disease, over-the-counter preparations containing zinc pyrithione and tar are usually the first-line treatment. If these are not effective, ketoconazole is the preferred second-line agent. Selenium sulphide and topical corticosteroids may also be useful.

For the face and body, topical antifungals such as ketoconazole and topical steroids are often used. However, it is important to use steroids for short periods only to avoid side effects. Seborrhoeic dermatitis can be difficult to treat, and recurrences are common. Therefore, it is important to work closely with a healthcare provider to manage the condition effectively.

Prolonged QT interval syndrome can be caused by tricyclic antidepressants and selective serotonin reuptake inhibitors, with citalopram being particularly associated with this effect. As a result, the MHRA issued a warning on its use and reduced the maximum recommended daily dose from 80 mg to 40mg due to the dose-dependent nature of QT prolongation. Although not mandatory, some GPs may request an initial ECG before prescribing citalopram.

Understanding Long QT Syndrome

Long QT syndrome (LQTS) is a genetic condition that causes delayed repolarization of the ventricles, which can lead to ventricular tachycardia and sudden death. The most common types of LQTS are caused by defects in the alpha subunit of the slow delayed rectifier potassium channel. A normal corrected QT interval is less than 430 ms in males and 450 ms in females.

There are various causes of a prolonged QT interval, including congenital factors, drugs, and other medical conditions. Some drugs that can prolong the QT interval include amiodarone, tricyclic antidepressants, and selective serotonin reuptake inhibitors. Electrolyte imbalances, acute myocardial infarction, and subarachnoid hemorrhage can also cause a prolonged QT interval.

LQTS may be picked up on routine ECG or following family screening. The symptoms and events associated with LQTS can vary depending on the type of LQTS. Long QT1 is usually associated with exertional syncope, while Long QT2 is often associated with syncope following emotional stress or exercise. Long QT3 events often occur at night or at rest.

Management of LQTS involves avoiding drugs that prolong the QT interval and other precipitants if appropriate. Beta-blockers may be used, and in high-risk cases, implantable cardioverter defibrillators may be necessary. It is important to recognize and manage LQTS to prevent sudden cardiac death.