Amyloidosis with predominant cardiac affection and fulminant evolution to death by electromechanical dissociation

Scope: To present the case of a patient with amyloi-dosis and predominantly cardiac affection, diagnosed based on clinical, ECG and imaging warning signs, but tardive with fulminant evolution and death by electro-mechanical dissociation, despite a mild systolic dys-function of LV and of the defibrillator implanted for primary preventionAmyloidosis is a multisystemic di-sease characterized by the deposition of amyloid into the extracellular space, affecting multiple organs, such as the kidneys, the heart and the nervous system. Car-diac amyloidosis is a restrictive cardiomyopathy, the most commonly involved forms being AL (light-chain) amyloidosis and TTR amyloidosis (transthyretin).

Methods: We present the case of a 68-year-old man, a hypotensive and a smoker, with no significant family or personal history, who has repeated syncopal episodes, requiring more hospitalizations in our clinic. Physical examination revealed normal blood sitting, and ortho-static hypotension after standing for a few minutes, la-boratory data was unremarkable. A 12-lead electrocar-diogram revealed low voltage in limb leads, first-degree atrioventricular block and and pseudo-infarct pattern. A transthoracic echocardiogram revealed left and ri-ght ventricular hypertrophy, biatrial dilatation and LV systolic dysfunction (Ejection fraction=45-50%), bi-ventricular longitudinal dysfunction and apical sparing and moderate mitral and tricuspid valve regurgitation. The patient’s coronary angiography showed no signifi-cant lesions. Holter ECG monitoring identifies mono-morphic VES and NSVT. EP study showed abnormal atrioventricular node function – HV prolongation.

Results: Since cardiac findings were strongly suggesti-ve for amyloidosis, CMR was pursued which depicted diffuse myocardial edema and delayed post gadolinium enhancement of myocardium in a heterogeneous pat-tern that suggested amyloid deposition in the myocar-dium. In the haematological evaluation, a subcutane-ous abdominal tissue biopsy was performed showing small deposits of Congo-positive red material with green birefringence in the polarized light exam and a myelogram with approximately 12-14% plasmocite. Electrophoresis of plasma proteins with imunofixation was performed and was lambda light chain -positive, thus confirming the diagnosis of primary amyloidosis lambda light chain type –stage III Mayo revised, with cardiac involvement. Due to the affected heart functi-on and the fact that the patient is presenting a NSVT episode on the ECG Holter examination, an implan-table cardioverter-defibrillator was implanted into the patient for the primary prevention of sudden cardiac death and prevention of tachy and bradyarrhythmi-as. The patient return to the clinic, after hematologi-cal evaluation, with heart failure sings associated with high NT-proBNP values and low blood pressure. He presents a syncopal episode and he was found to be in atrial fibrillation with a ventricular response rate of 140 bpm, which then organized in persistent focal atrial tachycardia, electrical conversion is attempt, without therapeutic success. The patient develops cardiac arrest by electromechanical dissociation, 3 days after the last syncope, immediately after the histopathological con-firmation of the amyloidosis diagnostic. When the defi-brillator was interrogated post-mortem, the patient did not experience arrhythmic events.

Conclusions: During the 3 months follow-up, the pa-tient received classical therapy of heart failure. The pa-tient was unable to receive specific hematologic treat-ment. Although a rare cause of heart failure, cardiac amyloidosis remains one of the main phenocopies in the differential diagnosis of hypertrophic cardiomyo-pathy with patients often experiencing significant and dramatic symptoms, with fulminant progression due to the subtype to heart failure or sudden death of non– aritmic-type. Thus, we emphasize the importance of a rapid diagnosis based on alert signals, which may lead to the rapid initiation of an etiological treatment, in the early stages of disease, when mortality is lower.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)