Question

1. what is interesting about amyloid cardiomyopathy?
2. what would be the research question for amyloid cardiomyopathy?

Answer 1

AMYLOID CARDIOMYOPATHY

DEFINITION

AMYLOID CARDIOMYOPATHY IS A FORM OF RESTRICTIVE CARDIOMYOPATHY AND CAN RESULT IN SIGNIFICANT PROGRESSIVE DIASTOLIC CONGESTIVE HEART FAILURE.THE FAMILIAL FORM OF AMYLOID CARDIOMYOPATHY IS CAUSED BY A GENE MUTATION RESULTING IN A FORM OF AMYLOID DEPOSITION CALLED TRANSTHYRETIN.

CAUSES

THE TWO KINDS MOST LIKELY TO DAMAGE THE HEART ARE LIGHT CHAIN AMYLOIDOSIS (AL) AND TRANSTHYRETIN AMYLOIDOSIS (ATTR)

TREATMENT DEPENDS ON THE SPECIFIC SUBTYPE OF AMYLOIDOSIS.IT MAY INVOLVE MEDICATION,CHEMOTHERAPY AND STEM CELL TRANSPLANTATION.

CLINICAL MANIFESTATIONS

SYMPTOMS OF CARDIAC AMYLOIDOSIS MIMIC THOSE OF HERAT FAILURE ,

INCLUDING:

• THICKNENED ,LESS FLEXIBLE HEART TISSUE ( RESTRICTIVE CARDIOMYOPATHY, OR STIFF HEART SYNDROME)
• SHORTNESS OF BREATH
• FATIGUE
• SWELLING IN THE LEGS
• HEART PALPATIONS
• LIGHTHEADEDNESS

CARDIAC AMYLOIDOSIS DIAGNOSIS

• TO CONFIRM A DIAGNOSIS OF CARDIAC AMYLOIDOSIS, YOU WILL NEED EITHER A CARDIAC BIOPSY OR TECHNETIUM PYROPHOSPHATE SCAN.
• A CARDIAC BIOPSY INVOLVES TAKING A SMALL SAMPLE OF HEART TISSUE THAT THE DOCTOR EXAMINES UNDER THE MICROSCOPE
• A TECHNETIUM PYROPHOSPHATE SCAN IS SIMILAR TO AN MRI IN THAT IT GIVES A PICTURE OF THE HEART. A DYE IS INJECTED BEFORE THE SCAN AND WILL CAUSE TRANSTHYRETIN AMYLOIDOSIS TO "LIGHT UP" . IF EITHER TEST INDICATES TTR AMYLOIDOSIS,GENETIC TESTING IS RECOMMENDED TO CONFIRM THE SUBTYPE
• OTHER TEST THAT MIGHT BE RECOMMENDED

​​​​​​​   1. ECG

   2. ECHOCARDIOGRAM

     3. BLOOD WORK

   4. URINALYSIS

TREATMENT

CRDIAC AMYLOIDOSIS IS A SERIOUS CONDITION THAT REQUIRES A MULTIDISCIPLINARY APPROACH.THOUGH THE CONDITION CANNOT BE REVERSED ,TREATMENT MAY BE ABLE TO SLOW THE PROGRESSION OF THE AMYLOID DEPOSITS AND ADDRESS DAMAGE TO THE HEART.

TREATMENT DEPENDS ON THE SUBTYPE AND MAY INVOLVE A COMPINATION OF THESE APPROACHES:

• MEDICATION O STABILIZE THE TTR PROTIEN ( FOR ATTR, NOT AL )
• MEDICATION TO "SILENCE" THE TTR GENE AND PREVENT THE BODY FROM PRODUCING THE TTR PROTIEN ( FOR ATTR,NOT AL)
• MEDICATION TO REDUCE SWELLING OR CONTROL IRREGULAR HEART BEAT.
• A PACEMAKER TO REGULATE THE HEARTBEAT
• CHEMOTHERAPY ( FOR AL, NOT FOR ATTR )
• AUTO STEM CELL TRANSPLANT ( FOR AL, NOT FOR ATTR )
• CLINICAL TRIAL PARTICIPATION TO TEST NEW  THERAPIES.

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IN STUDENT POINT OF VIEW INTERESTING ABOUT THIS DISEASE IS IT CAN'T BE DIAGNOSABLE EASILY,SO IT IS A CHALLENGE TO DIAGNOSE.AND THERE IS NO EFFECTIVE TREATMENT OPTION ABOUT THIS DISEASE, SO RESEARCH ABOUT THIS DISEASE VERY HELPFULL FOR MANY PEOPLE AROUND THE WORLD.