The Role of New Imaging Technologies in the Diagnosis of Cardiac Amyloidosis

Palmiero, Giuseppe; Vetrano, Erica; Rubino, Marta; Monda, Emanuele; Dongiglio, Francesca; Lioncino, Michele; Fraia, Francesco Di; Caiazza, Martina; Verrillo, Federica; Capodicasa, Laura; G, Cerciello; Manganelli, Fiore; Catalano, Mara; D’Arienzo, Davide; Rimini, Maria Luisa De; Ascione, Raffaele; Golino, Paolo; Caso, Pio; Ascione, Luigi; Limongelli, Giuseppe

doi:10.1016/j.hfc.2021.07.014

Cited by 11 publications

(13 citation statements)

References 105 publications

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“…Ventricular involvement in CA is characterized by early basal involvement that starts from the subendocardial layers, acquiring a transmural fashion subsequently with midventricular involvement and LV apical sparing, responsible for generating the same pattern using longitudinal strain analysis [30,31]. This pattern is quite specific and valuable in suspected CA patients with concentric LVH [32].…”

Section: Cardiac Amyloidosismentioning

confidence: 99%

Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes

Monda

Palmiero

Lioncino

et al. 2022

JCM

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Multimodality imaging is a comprehensive strategy to investigate left ventricular hypertrophy (LVH), providing morphologic, functional, and often clinical information to clinicians. Hypertrophic cardiomyopathy (HCM) is defined by an increased LV wall thickness not only explainable by abnormal loading conditions. In the context of HCM, multimodality imaging, by different imaging techniques, such as echocardiography, cardiac magnetic resonance, cardiac computer tomography, and cardiac nuclear imaging, provides essential information for diagnosis, sudden cardiac death stratification, and management. Furthermore, it is essential to uncover the specific cause of HCM, such as Fabry disease and cardiac amyloidosis, which can benefit of specific treatments. This review aims to elucidate the current role of multimodality imaging in adult patients with HCM.

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Section: Cardiac Amyloidosismentioning

confidence: 99%

Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes

Monda

Palmiero

Lioncino

et al. 2022

JCM

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“…Red flags for differential diagnosis of late onset HCM are listed in Supplemental Table 3. In patients in whom cardiac or extracardiac red flags are inconclusive to orient diagnosis, cardiac magnetic resonance (CMR) with T1 mapping should be considered: late gadolinium enhancement in the inferolateral wall and low native T1 are typical of FD, in addition, because storage disorder is predominantly intracellular in FD, extracellular volume (ECV) is typically normal in FD, in contrast with CA [79][80][81][82][83][84][85][86][87][88].…”

Section: Diagnostic Work Up and Management Of Adult Onset Hcmmentioning

confidence: 99%

Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP)

Limongelli

Adorisio

Baggio

et al. 2022

International Journal of Cardiology

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“…83,85,86 In contrast, heart failure with preserved ejection fraction presentation in an elderly patient with a hypertrophic-restrictive phenotype should raise the suspicion of cardiac amyloidosis. 80,87,88 ECG is abnormal in most patients with cardiomyopathy and could present a specific pattern of abnormalities. For example, atrio-ventricular blocks are common in patients with hypokinetic/dilated phenotype with cardiac sarcoidosis.…”

Section: Rare Diseasesmentioning

confidence: 99%

“…The observation of biventricular hypertrophy, restrictive physiology, granular sparkling appearance of the myocardium and increased thicknesses of the cardiac valve is typical of cardiac amyloidosis. 80,87,88 A massive symmetric left ventricular hypertrophy in a child is consistent with metabolic or storage disorders, or the coexistence of concentric left ventricular hypertrophy and systolic dysfunction leads to the suspicion of storage or mitochondrial disorders. 78,82 CMR offers an incremental contribution to the diagnosis of cardiomyopathy, given its high spatial resolution and the possibility of defining the intrinsic magnetic properties of the myocardium and the distribution pattern of gadolinium-based contrast agents.…”

Section: Rare Diseasesmentioning

confidence: 99%

“…Presentation with HCM and biventricular obstruction in infants (often due to pulmonary valve or subvalvular stenosis) is a common clinical onset of RASopathies 83,85,86 . In contrast, heart failure with preserved ejection fraction presentation in an elderly patient with a hypertrophic-restrictive phenotype should raise the suspicion of cardiac amyloidosis 80,87,88 …”

Section: Rare Diseasesmentioning

confidence: 99%

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From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow

Autore

Bariani

Bauce

et al. 2023

Journal of Cardiovascular Medicine

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Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations of proteins with ‘structural’ or ‘functional’ roles within the cardiomyocyte, going from the regulation of contraction-relaxation, metabolic and energetic processes to ionic fluxes. Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease, including hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies. Secondary nonhereditary causes to be excluded include infections, toxicity from drugs or alcohol or medications, hormonal imbalance and so on. Obtaining a phenotypic definition and an etiological diagnosis is becoming increasingly relevant and feasible, thanks to the availability of new tailored treatments and the diagnostic advancements made particularly in the field of genetics. This is, for example, the case for transthyretin cardiac amyloidosis, Fabry disease or dilated cardiomyopathies due to laminopathies. For these diseases, specific medications have been developed, and a more tailored arrhythmic risk stratification guides the implantation of a defibrillator. In addition, new medications directly targeting the altered protein responsible for the phenotype are becoming available (including the myosin inhibitors mavacantem and aficamten, monoclonal antibodies against Ras-MAPK, genetic therapies for sarcoglycanopathies), thus making a precision medicine approach less unrealistic even in the field of cardiomyopathies. For these reasons, a contemporary approach to cardiomyopathies must consider diagnostic algorithms founded on the clinical suspicion of the disease and developed towards a more precise phenotypic definition and etiological diagnosis, based on a multidisciplinary methodology putting together specialists from different disciplines, facilities for advanced imaging testing and genetic and anatomopathological competencies.

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The Role of New Imaging Technologies in the Diagnosis of Cardiac Amyloidosis

Cited by 11 publications

References 105 publications

Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes

Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes

Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP)

From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow

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