Find information on diagnostic tools and find background information on the anatomy and physiology of the heart to understand basic concepts covered in the lab.
Questions:
- Symptoms of a selection of heart diseases, to serve as examples of what kinds of things can go wrong with the heart. How are symptoms detected and why?
- Tools and techniques used for diagnosis. What can the different techniques detect and how do they work?
- Principles of pedigree analysis.
- Auscultation
- Echocardiography
- Electrocardiogram (ECG)
- Magnetic resonance imaging (MRI)
- Pedigree analysis
For this lab I learned what different tools do for different functions of the body. Like...
- The stethoscope i used to monitor the sound made by the vibration of the heart and blood as pumping occurs.
- Allows one to hear the two heart sounds
- First occurs at moment of mitral and tricuspid valve closing
- Second occurs at moment of aortic and pulmonic valve closing
- Moderate bradycardia and mitral valve regurgitation cause irregularities in the sound of the heart
- Bradycardia is an abnormally slow heart beat rhythm
- Mitral valve regurgitation occurs because of an inability of the mitral valve
- A murmur is a rumbling or blowing sound that is made by the heart, often by malfunctioning heart valves.
- Associated with problems involving the heart valves
- Can be highly variable, from low frequency rumbles to higher pitched blowing sounds
- Could occur during systole or diastole
- Caused by a valve being too narrow, a leak, or congenital holes in the heart
After learning some terms I went through the lab and performed a preliminary stethoscopic exam in order to listen to the patients heart. The patient was a male that went by Bob B. Blood. He was 35 years old and a dwarf. He was referred by a physician after experiencing breathlessness and erratic heartbeat.
After listening to the rhythm of Bob's heartbeat I found out that the heart sound showed the first and second sound to be abnormal. So I did further testing and learned what more tools were used for.
- Echocardiography images are made by images being compiled from ultrasound reflected from the heart tissue.
- Uses ultrasound emitted from probe, sound reflects back to probe when encounters solid object.
- Results are compiled with a computer.
- The orange and blue colors on the blood indicate whether the blood moving toward or away from the probe.
- Doppler echocardiography detects movement of blood
- Has nothing to do with oxygenation or temperature
- The heart cannot be measure with echocardiography by the oxygen content of the blood.
- Can provide very good real-time images of the heart
- Valve movements monitored, heartbeat measured by observing the movements, and size of the chambers can be calculated
- Can't monitor chemical compositions of blood, so can't measure oxygen content.
So next we looked at a 4-Chamber detail view of Bob's heart and found out he was missing the wall between the right and left atria, a form of atrial septal defect. Then I saw what it looked like compared to a healthy heart.
After I finished the examination and learned even more! (surprise, surprise!) I learned...
- In a pedigree chart, an unfilled square symbol with the number II3 represent the third individual, who is male, in the second generation of the family.
- Pedigrees males are represented by squares
- The purpose of pedigree analysis is to determine whether a disease is inherited and what the pattern of inheritance is.
- Only carried out to determine the inheritance of a specific trait within a family
- If two of sex children of two perfectly healthy parents are born with a serious genetic disease, then the disease is recessive.
- In the case of a dominant trait, at least one parent would have to be affected
- Fact that three of the children are affected with the same disease and that the parents are related suggests that the disease is inherited
The final examination was to determine whether the heart condition under consideration is inherited. I used non-invasive procedures to find out which relatives are affected (the actual steps were not shown). After reviewing the family history of Bob I concluded that the lineage supports an autosomal recessive pattern of inheritance.
Pedigree Exam Diagosis
Bob has a niece (III/4) who is affected. This pattern of inheritance is consistent with autosomal recessive traits. Bob and the affected niece are homozygous with respect to this recessive mutation, while both parents (I/1 and I/2) as well as the younger brother (II/5) and sister-in-law (II/6) are heterozygous carriers.
In the End! With the help of the lab I concluded that Bob suffered from Ellis van Creveld syndrome! Which you can identify at:
http://www.hhmi.org/biointeractive/vlabs/cardiology/b_nav/5note/encycloframe.html
'Cause I don't think this blog needs a whole lot of writing than already given :)
And this is only Part I! :)
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