Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation.
BACKGROUND
A 46-year-old Afro-Caribbean man presented with progressive dyspnea and recurrent syncope. Clinical examination revealed evidence of biventricular failure.


METHODS
Electrocardiography, echocardiography, cardiac biopsy, measurement of serum levels of free light chain, scintigraphy with radiolabeled serum amyloid P component, transthyretin gene sequencing and immunohistochemistry.


METHODS
Cardiac acquired monoclonal immunoglobulin-light-chain amyloidosis with the incidental presence of the amyloidogenic transthyretin Val122Ile mutation.


RESULTS
The patient was referred for consideration of urgent cardiac transplantation and subsequent autologous stem cell transplantation. Unfortunately, he died suddenly within a few weeks of referral.
Wechalekar
Ashutosh D
AD
National Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Department of Medicine (Hampstead Campus), Royal Free and University College Medical School, London, UK. a.wechalekar@medsch.ucl.ac.uk
Offer
Mark
M
Gillmore
Julian D
JD
Hawkins
Philip N
PN
Lachmann
Helen J
HJ
D000686:Amyloidosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D001706:Biopsy; D002313:Cardiomyopathy, Restrictive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D004252:DNA Mutational Analysis; D004417:Dyspnea / Q000209:etiology; D004452:Echocardiography; D018618:Echocardiography, Doppler, Color; D004562:Electrocardiography; D017809:Fatal Outcome; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000032:analysis*; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010265:Paraproteinemias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D011228:Prealbumin / Q000235:genetics*; D013575:Syncope / Q000209:etiology; D051598:Whole Body Imaging
D007145:Immunoglobulin kappa-Chains; D011228:Prealbumin