Amyloidosis Month
03 Mar, 2021
Dr. Rajesh Bollam
5 Best Papers
Tips, Tricks & Thread
Diagnostic delays
3 years from symptom onset 
may be evaluated > 5 specialists prior to receiving the correct diagnosis
vast majority of cardiac amyloidosistransthyretin amyloidosis or light chain amyloidosis“red flag”
suspicion for this diagnosis
ECG
voltage QRS amplitude limb leads (≤0.5 mV), pseudo-infarct pattern & relativevoltage QRS (S wave in V1 + Rwave in V5 or V6 ≤15 mm) in the setting of LVH on #EchoFirst AV blockEcho concentric LVH, biatrial
& small pericardial
, apical sparing of LV strain #whyCMR Diffuse, subendocardial LGE. T1 mapping techniques & measurement of extracellular volumesMajority of false
testsLC cardiac amyloidosis, exclusionLC amyloidosis is critical Several types of amyloidosis have been described based on the specific protein comprising the deposited fibrilsUncommon for secondary (AA) amyloidosis
& this is rarely seen in
where severe chronic inflammatory processes are generally well managed Clinical cardiac amyloidosisextracellular deposition of proteins which have folded & aggregated such that they form amyloid fibrilsVal122IIe mutation, an hATTR subtype, is highly aggressive & therefore necessitates unique therapeutic and follow up regimensCyBorD Daratumumab works effectively
Genetic testingcritical component of the evaluation
Val122Ile1st common mutation
Thr60Ala2nd most common mutationVal30Met (pV50M)most common
mutation outside of the. Endemic in 
TTR genetic testing is recommended for all patients
Once a patient carrying a pathological TTR geneRecognizing a constellation of ATTR amyloidosis symptomssuspicion of amyloidosis early in its coursecardiac, neurologic, nephropathy or musculoskeletal manifestations ATTR amyloidosismusculoskeletal manifestations 5 to 15 years prior to other symptoms
Carpal tunnel syndromeTrigger fingerLumbar spinal stenosistrigger fingercarpal tunnel syndrome reportedfamily w/ATTRvRupture distal biceps tendon (Popeye sign)>50y ATTR amyloidosis is now a treatable disease, recognizing the constellation signs & symptoms, including those that are neurologic & musculoskeletalEarly treatment will make a meaningful impact on a patient’s quality of life, autonomy, and physical function Previously considered a rare disease, CA is increasingly recognized among patients:misdiagnosed as undifferentiated HFPEFparadoxical low-flow/low-gradient aortic stenosisotherwise unexplained left ventricular hypertrophy Basis for effective diagnostic & therapeuticearly recognition and
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