This document discusses Marfan Syndrome in a patient. It describes tests that revealed the patient has mitral valve prolapse, aortic dissection, and aortic dilation causing aortic regurgitation. Based on these results and the patient's family history, he was diagnosed with Marfan Syndrome according to clinical guidelines. The patient requires surgery to repair the aortic dissection and replace his aortic valve. After surgery, he will need to take beta blockers long-term to prevent blood clots.
Marfan syndrome - a detailed study ( all medical information )martinshaji
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
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Marfan syndrome - a detailed study ( all medical information )martinshaji
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
please comment
thank you
Marfan syndrome is a rare genetic disorder of the connective tissue. This presentation describes the disease's pathogenesis, characteristics, diagnosis and treatment :)
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
This is a slide presentation for MBBS students. a brief overview of hemochromatosis, an iron overload condition. overview of hemochromatosis, pathophysiology, clinical features, approach, and management
Marfan syndrome is a rare genetic disorder of the connective tissue. This presentation describes the disease's pathogenesis, characteristics, diagnosis and treatment :)
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
This is a slide presentation for MBBS students. a brief overview of hemochromatosis, an iron overload condition. overview of hemochromatosis, pathophysiology, clinical features, approach, and management
In heart valve disease, one or more of the valves in your heart doesn't work properly.
Your heart has four valves that keep blood flowing in the correct direction. In some cases, one or more of the valves don't open or close properly. This can cause the blood flow through your heart to your body to be disrupted.
Your heart valve disease treatment depends on the heart valve affected and the type and severity of the valve disease. Sometimes heart valve disease requires surgery to repair or replace the heart valve.Your heart has four valves that keep blood flowing in the correct direction. These valves include the mitral valve, tricuspid valve, pulmonary valve and aortic valve. Each valve has flaps (leaflets or cusps) that open and close once during each heartbeat. Sometimes, the valves don't open or close properly, disrupting the blood flow through your heart to your body.
Heart valve disease may be present at birth (congenital). It can also occur in adults due to many causes and conditions, such as infections and other heart conditions.
Heart valve problems may include:
Regurgitation. In this condition, the valve flaps don't close properly, causing blood to leak backward in your heart. This commonly occurs due to valve flaps bulging back, a condition called prolapse.
Stenosis. In valve stenosis, the valve flaps become thick or stiff, and they may fuse together. This results in a narrowed valve opening and reduced blood flow through the valve.
Atresia. In this condition, the valve isn't formed, and a solid sheet of tissue blocks the blood flow between the heart chambers.Several factors can increase your risk of heart valve disease, including:
Older age
History of certain infections that can affect the heart
History of certain forms of heart disease or heart attack
High blood pressure, high cholesterol, diabetes and other heart disease risk factors
Heart conditions present at birth (congenital heart disease)Heart valve disease can cause many complications, including:
Heart failure
Stroke
Blood clots
Heart rhythm abnormalities
Death
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
2. Cardiovascular System
Aorta
The aorta, which is the largest artery in the
body, carries blood from the left
ventricle. The aorta is made of three
different layers of tissue: intima (a thin
inner layer), media (an elastic middle
layer), and adventitia (a tough outer
layer).
3.
4. Aortic Dissection
• Aortic dissection occurs when the inner
•
layer of the aorta (intima) develops a
tear. The blood can now rush into the
middle layer of the aorta, separating or
dissecting the two layers.
If the blood ruptures through the outer
layer (adventitia), an aortic dissection
can be fatal.
7. Valves
•
•
The aortic semilunar valve allows blood to flow
from the left ventricle into the aorta and is
composed of three flaps or cusps.
The mitral valve allows blood to flow from the
left atrium to the left ventricle and has two cusps.
8. Mitral Valve Prolapse
• Mitral valve
prolapse occurs
when the mitral
valve does not
close properly. The
cusps of the valve
bulge backwards
or prolapse into the
left atrium.
9. Patient History
• 32 year old male
patient
• Actuary
• 6 feet and 5
inches tall
• One hundred and
forty pounds
• Married without
children
10. Family History/Lifestyle
• Patient has a father with Marfan
•
•
Syndrome (de novo mutation) and a
mother who died of small cell lung
carcinoma.
Patient is not a smoker and drinks only
socially. There are no associated
occupational issues and patient is not a
recreational drug user.
Patient has no drug allergies and is
11. Past Medical History
• Patient had surgery to implant
Harrington rods at age sixteen.
o Harrington rods are implanted along
the spine to correct instability and
deformity. When the spine is unstable,
it no longer retains a normal shape
during movement.
o Patient first sought care due to pain
from spinal instability.
13. • After further examinations, skin striae and pectus
excavatum were both detected.
14. • It was also reported that the patient had
reduced elbow extension. Elbow
extension is ruled reduced when the
angle formed is less than 170 degrees.
15. Diagnosis
• The guidelines for Marfan Diagnosis are
outlined by the 2010 Revised Ghent
Nosology. It relies upon seven different
rules.
o Rules 5-7 are contingent upon the
presence of family history of the
condition, which is present with this
patient
o Rule 6 says that the systemic score
17. Reason for Visit
•
•
•
Patient previously had a systemic score of 6
o If mitral valve prolapse is detected, this would
increase the score to 7 and a diagnosis can be
made.
If the patient does have Marfan Syndrome,
precautionary measures must be taken in order to
diagnose or prevent other heart problems including
o aortic regurgitation and mitral valve prolapse,
aortic dilation, and aortic dissection
The patient was scheduled for a routine diagnosis,
but was admitted after experiencing extreme anterior
chest pain.
18. Marfan Syndrome
• Marfan Syndrome is caused by a
mutation of the FBN1 gene on
chromosome 15. This gene is responsible
for encoding the glycoprotein fibrillin-1.
Fibrillin-1 is responsible for the proper
formation of the extracellular matrix,
which is needed for the structural
integrity of connective tissue.
19. Tests
• There are several tests that can be
•
performed to check for heart conditions
related to Marfan Syndrome. One of the
most important conditions to check for is
Mitral valve prolapse since it will
confirm the diagnosis of Marfan
Syndrome by raising the systemic score
to 7.
Auscultation
20. Auscultation
• Auscultations can be
used to listen for
specific heart
sounds that are
related to specific
conditions like
mitral valve
prolapse and aortic
regurgitation.
21. Test results
• Heart auscultations revealed clear signs of both
mitral valve prolapse and aortic regurgitation.
Upon evidence of this, the echocardiograms were
performed.
22. Transthoracic echocardiogram
• Transthoracic echocardiogram is an easy
to perform and noninvasive imaging
technique that uses sound waves to
produce a moving image of the heart.
• There are 4 different standard positions
of the transducer and each can give
several different images
o parasternal (long and short axis),
apical, subcostal, and suprasternal
23. Parasternal Long Axis
• This is a 2-D echocardiogram in the
parasternal long axis that shows evidence
of a dilation of the aortic root.
24. Color Doppler
• This color doppler shows regurgitation
through a normal aortic valve that results
from dilation of the aortic root.
25. 2-D and M-Mode
• These are a 2-D and M-mode images of a
mitral valve prolapse.
26. Transesophageal
Echocardiogram
• Transesophageal echocardiogram can give much
clearer images than transthoracic since the
transducer is swallowed and is closer to the heart.
However, the procedure is much more evasive.
• It is commonly used to diagnose aortic dissection
27. Results
• As a result of these tests, I have
concluded that the patient has mitral
valve prolapse, aortic dissection, and
aortic dilation that is causing aortic
regurgitation.
o According to Ghent Nosology, I can
now diagnose the patient as having
Marfan Syndrome
28. Treatment- Mitral Valve
Prolapse
• Most patients with mitral valve prolapse do not
require treatment unless they have symptoms. If the
patient becomes symptomatic:
o Medication: beta blockers (these reduce blood
pressure and the heart beats with less force) and
aspirin (reduces risk of blood clots)
o Surgery: Surgery is not very common except with
severe prolapse
Valve repair: Valve repair preserves the patient
tissue
Valve replacement: The valve is replaced by a
29. Aortic Dissection
• Aortic dissection requires surgery. The
•
surgeons must remove much of the
dissected aorta, prevent blood from
entering the aortic wall, and reconstruct
the aorta with a synthetic tube.
If there are aortic valve problems, the
valve will be replaced at the same time.
The valve is placed within the tube.
30. Aortic Dilation
•
•
Aortic dilation requires surgical
management. It should be
performed when the aorta is 4.55 cm, the rate of growth is 0.5
cm or more, and there is the
presence of aortic regurgitation.
An artificial valve, to replace the
aortic valve, is mounted on a
fabric tube prior to surgery. This
graft is used to replace a portion
of the aorta.
31. Treatment
• The patient does not need surgery for the mitral
valve prolapse at present, but must have surgery
for the aortic dissection.
o A tube graft will replace any dissected tissue
and a new mechanical valve will replace the
aortic valve. This will also solve the problem
of aortic dilation.
o After surgery, the patient will have to take
beta blockers indefinitely to prevent clots
from forming on the valve. This will also help
treat the mitral valve prolapse