Isolated Cardiac Amyloidosis: An Enigma Unravelled

Khalid, Umair; Awar, Omar; Verstovsek, Gordana; Cheong, Benjamin; Yellapragada, Sarvari Venkata; Jneid, Hani; Deswal, Anita; Virani, Salim S.

doi:10.14797/mdcj-11-1-53

Cited by 4 publications

(14 citation statements)

References 17 publications

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“…Cardiac amyloidosis is a condition resulting from the deposition and accumulation of insoluble fibrillary proteins known as amyloidwithin the extracellular region of the heart [ 1 ].There are five primary types of amyloidcontributory to this condition: TTR, light chain (AL), amyloid A (AA), systemic senile, isolated atrial/secondary by which this exceptionally rare condition features one of these proteins in predominance [ 2 ].The two most common forms of amyloid implicated in cardiac amyloidosis are AL and ATTR amyloid, with the TTR related form holding two further subtypes being the hereditary (or mutated) subtype, and the senile (non-mutated), senile systemic amyloidosis (SSA) subtype [ 2 ].AL amyloidosis is an acquired disease whereby TTR-related forms may hold a genetic predisposition. The diagnostic workup undertaken once cardiac amyloidosis is suspected involves the utilization of characteristic electrocardiogram, echocardiogram, cardiovascular magnetic resonance imaging (CMR), and monoclonal protein isolation findings [ 1 ]. A tissue biopsy of the myocardium, historically being the gold standard technique, may be needed in atypical cases to provide confirmatory data.…”

Section: Discussionmentioning

confidence: 99%

“…Findings relative to each form of amyloid vary per respective diagnostic modality.On electrocardiogram, a low QRS voltage and pseudo-infarct pattern is noteworthy. However, studies indicate that the low voltage waveforms predominate in the AL subtype in contrast to the ATTR amyloid subtype, with the pseudo-infarct pattern presenting in both [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…Amyloidosis is a term that encompasses a rare group of systemic diseases inclusive of the coalescence and extracellular deposition of insoluble fibrillary proteins known as amyloid in various organs. The disease subtype is based on the type of amyloid protein and the organ that this manifestation predominates.These proteins accumulate in the respective organ, progressively replacing the native tissue parenchyma resulting in eventual organ failure [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

“…In addition to the pertinent historical findings and presentation, diagnostic evaluation of cardiac amyloidosis incorporates the modalities of electrocardiograms, echocardiograms, and cardiac magnetic resonance imaging. However, the gold standard of diagnosis of cardiac amyloidosiscomes from the myocardial biopsy which reveals histological evidence of amyloid material utilizing Congo red stain, with the presence of apple-green birefringence under polarized light conditions [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

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Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis

Lewars¹,

Wazir²,

Gordon³

et al. 2021

Cureus

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Amyloidoses are a family of inherited or acquired disorders characterized by the deposition of insoluble extracellular protein fibrils in various organs and tissues, thereby impairing their function. Amyloidoses are typically misfolded proteins, and on rare occasions, can deposit in the myocardium resulting in an infiltrative/restrictive cardiomyopathy. Restrictive cardiomyopathy is an underdiagnosed cause of congestive heart failure (CHF) with preserved ejection fraction, atrial and ventricular arrhythmias along with conduction defects. In elderly patients, as with this study, cardiac amyloidosis most often results from abnormalities in the liver protein transthyretin (TTR), a thyroxine and retinol-retinol binding complex transporter in blood. Mutated serum TTR results in familial systemic amyloidosis, whereas wild-type TTR results in senile cardiac amyloidosis predominantly seen in elderly males. Scintigraphy, a common non-invasive method used to facilitate early diagnosis of cardiac amyloidosis was the method used in this study. However, the gold standard for definitive diagnosis of cardiac amyloidosis is endomyocardial biopsy (EMB). Besides organ transplant, which is rarely done, therapy for cardiac amyloidosis is mainly aimed at symptomatic and supportive care. Plenty of evidence has shown that the left ventricular ejection fraction (LVEF) in patients with restrictive cardiomyopathy is usually preserved. However, in this study, we review the unique case of an 82-year-old male who was diagnosed with isolated cardiac amyloidosis with severe systolic dysfunction (decreasedLVEF), the methods used to establish the diagnosis, as well as the therapeutic interventions.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis

Lewars¹,

Wazir²,

Gordon³

et al. 2021

Cureus

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“…The myocardium is affected in almost 50% of AL amyloidosis patients 3 4. Involvement limited to the heart is rare 5. CA exhibits itself with a wide variety of pathological processes, including congestive heart failure, arrhythmia, heart block and cardiomyopathy 6…”

Section: Introductionmentioning

confidence: 99%

Cardiac amyloidosis presenting with recurrent ischaemic strokes

Suleiman¹,

Coughlan

Moore

2020

BMJ Case Rep

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A 72-year-old man presented to our service with sudden onset right-sided weakness, aphasia and gaze palsy with diplopia. CT angiogram demonstrated an acute thrombotic occlusion of the distal basilar artery, a basilar infarct and the patient underwent successful thrombectomy. ECG and telemetry demonstrated slow atrial fibrillation (AF). His transthoracic echocardiogram (TTE) showed a reduced ejection fraction of 25% with global hypo-kinesis, a dilated left ventricle (LV) and LV hypertrophy (LVH). Repeat TTE appeared suspicious for an infiltrative cardiomyopathy with LVH and a speckled appearance to the myocardium. Approximately 10 months later, he suffered another ischaemic stroke post-elective cardioversion for AF while on anticoagulation. Cardiac MRI demonstrated areas of delayed gadolinium enhancement consistent with amyloidosis. Fat pad biopsy was positive for amyloidosis. Our patient has made an excellent recovery from the ischaemic strokes and is being managed in our heart failure clinic.

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Paradoxical Left Ventricular Hypertrophy by Echocardiogram and Low Voltage ECG: A Key Clue in the Diagnostic Workup of Two Distinct Presentations of Cardiac AL Amyloidosis

Tolu-Akinnawo¹,

Oyeleye²,

Thayer³

2023

Cureus

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Cardiac amyloidosis remains a rare disease caused by the extracellular deposition of abnormal proteinsamyloids in the myocardium. These protein structures in the myocardium are associated with high morbidity and mortality, with prognosis hinging on early detection and treatment. Three main types of cardiac amyloidosis have been identified: light chain (AL), familial or senile (ATTR), and secondary amyloidosis which is associated with chronic inflammation. Cardiac amyloidosis classically presents as diastolic heart failure with symptoms of volume overload low voltage on electrocardiogram (ECG) and echocardiographic features of diastolic dysfunction and paradoxical left ventricular hypertrophy (paradoxical with respect to low voltage on ECG). Early suspicion should trigger additional laboratory and imaging workup to facilitate early detection. Early detection remains critical to prognosis. Herein, we present two patients admitted to a safety-net hospital within one month of each other with distinct presentations yet important, overlapping characteristics that led to the diagnosis of AL amyloidosis in both patients.

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Isolated Cardiac Amyloidosis: An Enigma Unravelled

Cited by 4 publications

References 17 publications

Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis

Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis

Cardiac amyloidosis presenting with recurrent ischaemic strokes

Paradoxical Left Ventricular Hypertrophy by Echocardiogram and Low Voltage ECG: A Key Clue in the Diagnostic Workup of Two Distinct Presentations of Cardiac AL Amyloidosis

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