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Syndromes and eponimes in Otolaryngology
Syndromes and eponimes in Otolaryngology

... deafness (alternating with periods of unaffected hearing), vertigo, tinnitus. Periodic recurrence for days or months. May be corrected by induced nystagmus. Benign condition, but danger of possible cranial trauma due to fall. Barre - Lieou syndrome - characterized by trauma or arthritic changes invo ...
summation gallop
summation gallop

... • Brief, early, systolic outward thrust occupying the area of 0.5-2 cm and lasting about 2/3 of systole • Lateral and inferior displacement together with larger area of pulsation indicate left ventricular enlargement or hypertrophy ...
accelerated conduction
accelerated conduction

... the upper part of the AV node. The pre-excitation of the ‘Bundle of James’ is called LGL Syndrome. The artrial impulse preferentially passes through the posterior intra-nodal fibre [Thorel’s fibre / Bundle of James] and conducted to His Bundle. ...
Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome

... When the Patent Ductus Arteriosus (PDA) closes, the infant enters profound shock. Without treatment, the infant will generally die within a few weeks of birth. ...
charge_bowdoin
charge_bowdoin

... pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other simila ...
Powerpoint
Powerpoint

... between Tables 1 through 5. ↑ indicates gain of function; ↓, loss of function.*LQTS indicates Romano-Ward (RW) syndrome resulting from autosomal-dominant heterozygous mutations, nomenclature is considered historical because of low average QTc penetrance of ≈60%;148 mechanism-based classification by ...
Teaching Handout – Cardiology 1
Teaching Handout – Cardiology 1

... hypertrophy and LV dysfunction ...
Valvular Heart Disease
Valvular Heart Disease

... CXR shows signs of congestive heart failure or/and cardiomegaly (cor bovinum) ...
Broken Heart Syndrome
Broken Heart Syndrome

... • The supply of oxygen to the heart is less than the demand. • A resting heart extracts 75% of oxygen delivered by coronary blood flow. • Pain is a warning that heart cells are about to start dying time is short • Restoration of balance between supply and demand is essential to save as much muscle a ...
Guillain-Barre Syndrome
Guillain-Barre Syndrome

... Critical Illness ...
Shone`s Syndrome - Children`s Heart Clinic
Shone`s Syndrome - Children`s Heart Clinic

... Supravalvar rings are made up of an abnormal ridge of connective tissue that obstructs blood flow through the mitral valve. Coarctation of the aorta prevents adequate blood flow from getting out of the left ventricle to the body. Subaortic obstruction due to narrowing of the left ventricular outflow ...
Shone`s Syndrome - The Children`s Heart Clinic, PA
Shone`s Syndrome - The Children`s Heart Clinic, PA

... Supravalvar rings are made up of an abnormal ridge of connective tissue that obstructs blood flow through the mitral valve. Coarctation of the aorta prevents adequate blood flow from getting out of the left ventricle to the body. Subaortic obstruction due to narrowing of the left ventricular outflow ...
Sudden Death Syndrome
Sudden Death Syndrome

... Sudden Death Syndrome (SDS) is the wide term used for several causes of cardiac arrest in young people and is usually defined as non-traumatic, non-violent and unexpected. These can be related to the thickening or abnormal structure of the heart muscle or even changes of the electrical impulses that ...
Causes - Coweta County Schools
Causes - Coweta County Schools

... which means adult height is around 4ft 10 in. or under ...
- Cirencester Science and Technology Society
- Cirencester Science and Technology Society

... The condition occurs in young adults not experiencing any symptoms with a frequency of 1 in 500.It can occur in fit athletes after severe exercise e.g. international footballers. The family trees of patients having the condition have been mapped and often there are4-5 generations involved in a varie ...
Horner Syndrome at a Glance
Horner Syndrome at a Glance

... brainstem and cervical spinal cord to the level of T1-T3 spinal segments. Preganglionic (Second Order) Neurons Axons of preganglionic neurons, which arise in the T1-T3 spinal region, leave the spinal cord through the ventral roots and pass through the cranial thorax and neck as part of the vagosympa ...
OSCE (Answer)
OSCE (Answer)

... Similar attack before? Sharp pain in character Not related to exertion The patient said her brother dead very early with chest pain BP 170/80 What further Physical examination and bed side Investigation? BP both arm Auscultation for carotid and heart murmur esp. Aortic Regurgitation murmur. CT findi ...
Aitman.BHF Sympos.v6 - Workspace
Aitman.BHF Sympos.v6 - Workspace

... HMG CoA reductase (and other genes) as (minor) cause of hypercholesterolaemia ...
Dr. Tavoosi pregnancy_0
Dr. Tavoosi pregnancy_0

... bicuspid aortic valve ...
Eisenmenger`s Syndrome
Eisenmenger`s Syndrome

... breathlessness, which may develop in late childhood or early adult life. There may also be dizziness, chest pain, or ankle swelling, and a bluish complexion. In severe cases heamoptysis (coughing up blood) may occur and should be treated immediately. How is the condition diagnosed? The diagnosis can ...
NSGC Cardiovascular Genetics Pocket Guide
NSGC Cardiovascular Genetics Pocket Guide

... • Long QT syndrome (LQTS) • Brugada syndrome ...
Consequences of Untreated Ventricular Septal Defect
Consequences of Untreated Ventricular Septal Defect

... Rupture of large vessels Aortic aneurysm, AI, MVP Cardiomyopathy COA, renal artery stenosis Myocardial rhabdomyoma, WPW Cor pulmonale Cardiomyopathy ...
Risk Factors - Children`s Cardiomyopathy Foundation
Risk Factors - Children`s Cardiomyopathy Foundation

... or other heart rhythm issues ...
CONGENITAL HEART DEFECTS AND ASSOCIATED GENETIC DISORDERS The
CONGENITAL HEART DEFECTS AND ASSOCIATED GENETIC DISORDERS The

... repolarization which is seen as a prolonged QT interval The arrhythmia results in recurrent spontaneous syncope (loss of consciousness), seizures and sometimes, sudden cardiac death. LTQ syndrome is caused by repolarization defects in cardiac cells LTQ syndromes are heterogeneous group of disorders ...
Long QT Syndrome
Long QT Syndrome

... syncope, family h/o SCD, deafness  7 genetic defects  Important for identifying arrhythmia triggers  LQT1 = exercise-related  LQT2 = auditory stimuli  LQT3 = at rest or sleep; no benefit from BB  Most cases discovered after syncope or arrest ...
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Marfan syndrome



Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of connective tissue. It has a variable clinical presentation, ranging from mild to severe systemic disease. The most serious manifestations involve defects of the heart valves and aorta, which may lead to early death if not properly managed. The syndrome also may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. People with Marfan syndrome tend to be unusually tall, with long limbs and long, thin fingers and toes.The syndrome is caused by the misfolding of fibrillin-1, a glycoprotein which forms elastic fibers in connective tissue and contributes to cell signaling activity by binding to and sequestering transforming growth factor beta (TGF-β). The mutated fibrillin binds poorly to TGF-β, which results in an accumulation of excess TGF-β in the lungs, heart valves, and aorta. This in turn causes abnormal structure and function of vascular smooth muscle and reduced integrity of the extracellular matrix, which weaken the tissues and cause the features of Marfan syndrome.Named after Antoine Marfan, the French pediatrician who first described the condition in 1896, the disease is an autosomal dominant disorder. Management often includes the use of angiotensin II receptor antagonists (ARBs) and beta blockers.
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