23897372 Visualization

A 60 Age - year Age - old Age Caucasian Personal_background woman Sex with no History significant History medical History history History developed exercise Sign_symptom intolerance Sign_symptom , fatigue Sign_symptom and shortness Sign_symptom of Sign_symptom breath Sign_symptom on exertion Detailed_description over the several Duration months Duration prior Duration to her presentation Clinical_event to our outpatient Nonbiological_location clinic Nonbiological_location .
At the time of presentation, she also reported of dry Detailed_description cough Sign_symptom , orthopnea Sign_symptom , paroxysmal Detailed_description nocturnal Detailed_description dyspnoea Sign_symptom , generalised Detailed_description weakness Sign_symptom and intermittent Detailed_description numbness Sign_symptom of her hands Biological_structure and feet Biological_structure .
Social History history History was History negative History for History smoking Activity , alcohol Activity or History illicit Activity drugs Activity .
Physical Diagnostic_procedure examination Diagnostic_procedure was unremarkable Lab_value , except for jugular Biological_structure venous Biological_structure distension Sign_symptom , audible S1 Sign_symptom and Sign_symptom S2 Sign_symptom sounds Sign_symptom , bilateral Detailed_description crackles Sign_symptom on lung Diagnostic_procedure auscultation Diagnostic_procedure and bilateral Detailed_description pitting Detailed_description oedema Sign_symptom .
Chest Biological_structure X Diagnostic_procedure - ray Diagnostic_procedure showed cardiomegaly Sign_symptom , pulmonary Sign_symptom oedema Sign_symptom and small Severity - sized Severity bilateral Detailed_description pleural Sign_symptom effusions Sign_symptom .
A 12 Detailed_description - lead Detailed_description ECG Diagnostic_procedure demonstrated normal Lab_value sinus Diagnostic_procedure rhythm Diagnostic_procedure , low Sign_symptom - voltage Sign_symptom complexes Sign_symptom and extreme Severity right Sign_symptom - axis Sign_symptom deviation Sign_symptom (figure 1).
Transthoracic Diagnostic_procedure echocardiogram Diagnostic_procedure ( TTE Diagnostic_procedure ) demonstrated asymmetric Detailed_description biventricular Biological_structure hypertrophy Sign_symptom with preserved Lab_value ejection Diagnostic_procedure fraction Diagnostic_procedure of 60% Lab_value , elevated Lab_value right Biological_structure - ventricular Biological_structure systolic Diagnostic_procedure pressure Diagnostic_procedure of 36 Lab_value   mm Lab_value   Hg Lab_value and abnormal Lab_value myocardial Diagnostic_procedure texture Diagnostic_procedure , described as ‘ granular Texture sparkling Texture ’ (figure 2).
Coronary Biological_structure CT Diagnostic_procedure angiogram Diagnostic_procedure demonstrated normal Lab_value coronary Biological_structure arteries Biological_structure .
Subsequently, cardiac Biological_structure MRI Diagnostic_procedure demonstrated early Detailed_description and diffuse Detailed_description subendocardial Biological_structure delayed Sign_symptom enhancement Sign_symptom , concerning for infiltrative Disease_disorder myocardial Disease_disorder disease Disease_disorder and for diffuse Detailed_description biventricular Biological_structure hypertrophy Sign_symptom , with normal Lab_value ejection Diagnostic_procedure fraction Diagnostic_procedure (figure 3).
The patient underwent right Detailed_description heart Therapeutic_procedure catheterisation Therapeutic_procedure with endomyocardial Biological_structure biopsy Diagnostic_procedure , revealing diffuse Detailed_description amyloidosis Disease_disorder with amorphous Detailed_description proteinaceous Sign_symptom material Sign_symptom around cardiac Biological_structure myocytes Biological_structure and within blood Biological_structure vessels Biological_structure , which was positive Lab_value for Congo Diagnostic_procedure red Diagnostic_procedure stain Diagnostic_procedure (figure 4).
Subsequent laboratory Diagnostic_procedure evaluation Diagnostic_procedure registered elevated Lab_value , free Diagnostic_procedure λ Diagnostic_procedure light Diagnostic_procedure chains Diagnostic_procedure ( 86.3 Lab_value   mg/L Lab_value (normal: 5.7–26.3 mg/L)) and positive Lab_value Bence Diagnostic_procedure - Jones Diagnostic_procedure protein Diagnostic_procedure ( 0.37 Lab_value   g/24 Lab_value   h Lab_value ) in the urine Detailed_description .
Bone Biological_structure marrow Biological_structure biopsy Diagnostic_procedure revealed greater Lab_value than Lab_value 10% Lab_value infiltration Diagnostic_procedure of CD19− CD56+ Detailed_description CD138+ Detailed_description plasma Detailed_description cells Detailed_description with reversal Lab_value of marrow Diagnostic_procedure κ/λ Diagnostic_procedure ratio Diagnostic_procedure ( <1:2 Lab_value , normal: 2:1), consistent with MM Disease_disorder .
The patient was eventually diagnosed with systemic Detailed_description AL Detailed_description amyloidosis Disease_disorder with advanced Severity , stage Detailed_description III Detailed_description , cardiac Biological_structure amyloidosis Disease_disorder due to underlying MM Disease_disorder .
Given her advanced Severity cardiac Biological_structure amyloidosis Disease_disorder , the patient was deemed a poor candidate for autologous Therapeutic_procedure stem Therapeutic_procedure - cell Therapeutic_procedure transplantation Therapeutic_procedure .
The patient was started on systemic Detailed_description chemotherapy Medication with melphalan Medication and dexamethasone Medication .
Despite receiving standard therapy for heart failure—including diuretics Medication , β Medication - blockers Medication and ACE Medication inhibitors Medication —the patient's condition Diagnostic_procedure continued to worsen Lab_value and she succumbed Outcome to sudden Disease_disorder cardiac Disease_disorder death Disease_disorder .