AMYLOIDOSIS

Idiopathic cardiomyopathies are divided into three forms: primary restrictive, infiltrative, and storage disorders. Primary restrictive cardiomyopathies are usually genetically inherited. They are characterized by bi-atrial enlargement with non-dilated ventricles in addition to a characteristic histopathological morphology. Cardiac transplantation is the ideal treatment. Cardiac amyloidosis is the major form of infiltrative restrictive cardiomyopathies. Its prognosis is poor, but several therapies are being investigated and implemented. Storage cardiomyopathies are the consequence of accumulation of substances due to genetic defects affecting metabolic pathways; we review Fabry disease, glycogen storage diseases and hemochromatosis.

Paraproteins are intact monoclonal immunoglobulins (MIg) or isolated MIg heavy or light chains, detected in the blood or urine and caused by a clonal proliferation of B cells or plasma cells. Paraproteins often cause renal injury, referred to here as paraprotein-related renal disease (PPRD), whether the underlying clonal disorder is characterized by high tumour burden requiring treatment or low tumour burden and thus not requiring immediate treatment from the haematological standpoint. For the latter, an important recent update is the introduction of the concept of Monoclonal Gammopathy of Renal Significance (MGRS), in which the renal pathology in itself may justify the use of clone-directed therapies targeting the nephrotoxic clone, in order to preserve renal function. A bewildering array of renal pathology can be caused by paraproteins, affecting all compartments of the kidney – glomeruli, tubules, interstitium and blood vessels. This review aims to provide an overview of the different renal lesions that can be seen, organized by predominant compartment affected, with guidance on how to spot them and classify them.

Since the inception of the Canadian Cardiovascular Society heart failure (HF) guidelines in 2006, much has changed in the care for patients with HF. Over the past decade, the HF Guidelines Committee has published regular updates. However, because of the major changes that have occurred, the Guidelines Committee believes that a comprehensive reassessment of the HF management recommendations is presently needed, with a view to producing a full and complete set of updated guidelines. The primary and secondary Canadian Cardiovascular Society HF panel members as well as external experts have reviewed clinically relevant literature to provide guidance for the practicing clinician. The 2017 HF guidelines provide updated guidance on the diagnosis and management (self-care, pharmacologic, nonpharmacologic, device, and referral) that should aid in day-to-day decisions for caring for patients with HF. Among specific issues covered are risk scores, the differences in management for HF with preserved vs reduced ejection fraction, exercise and rehabilitation, implantable devices, revascularization, right ventricular dysfunction, anemia, and iron deficiency, cardiorenal syndrome, sleep apnea, cardiomyopathies, HF in pregnancy, cardio-oncology, and myocarditis. We devoted attention to strategies and treatments to prevent HF, to the organization of HF care, comorbidity management, as well as practical issues around the timing of referral and follow-up care. Recognition and treatment of advanced HF is another important aspect of this update, including how to select advanced therapies as well as end of life considerations. Finally, we acknowledge the remaining gaps in evidence that need to be filled by future research.

Depuis la parution des Lignes directrices sur l’insuffisance cardiaque (IC) de la Société canadienne de cardiologie en 2006, les soins aux patients atteints de ce trouble ont connu d’importants changements. Au cours de la dernière décennie, le Comité des lignes directrices sur l’IC a publié des mises à jour périodiques. Toutefois, en raison des changements importants qui sont survenus, le Comité des lignes directrices a jugé qu’il était nécessaire de procéder à une réévaluation exhaustive des recommandations sur la prise en charge de l’IC afin de produire un ensemble complet de lignes directrices à jour. Les membres des comités primaire et secondaire sur l’IC de la Société canadienne de cardiologie, ainsi que des spécialistes externes, ont passé en revue la littérature pertinente afin d’indiquer aux cliniciens la marche à suivre. Les lignes directrices de 2017 donnent des indications sur le diagnostic et la prise en charge (autosoins, traitements pharmacologiques et non pharmacologiques, dispositifs et orientation des patients) destinées à faciliter la prise de décisions quotidiennes en matière de soins aux patients atteints d’IC. Parmi les questions abordées figurent notamment les cotes de risque, les différences de prise en charge selon qu’il s’agit d’IC à fraction d’éjection préservée ou réduite, l’activité physique et la réadaptation, les dispositifs implantables, la revascularisation, la dysfonction ventriculaire droite, l’anémie et la carence en fer, le syndrome cardiorénal, l’apnée du sommeil, les cardiomyopathies, l’IC pendant la grossesse, la cardio-oncologie et la myocardite. Le comité a apporté une attention particulière aux stratégies et aux traitements visant à prévenir l’IC, à l’organisation des soins aux patients atteints d’IC, à la prise en charge des comorbidités, ainsi qu’à des questions pratiques concernant les délais d’orientation du patient et les soins de suivi. La reconnaissance et le traitement de l’IC au stade avancé, et notamment le choix des thérapies à ce stade et les considérations en matière de fin de vie, représentent un autre aspect important de cette mise à jour. Enfin, le comité reconnaît les lacunes dans les données probantes qui subsistent et devront être comblées par les recherches futures.

Immunoglobulin light chain amyloidosis (ALA) is a plasma cell dyscrasia characterized by deposition of amyloid fibrils in various organs and tissues. The current paper is devoted to clarify if ALA has a unique gene expression profile and to its pathogenetic argumentation.

The meta-analysis of ALA patients vs. healthy donors, monoclonal gammopathy of undetermined significance, smoldering and multiple myeloma patients' cohorts have revealed molecular signature of ALA consists of 256 genes representing mostly ribosomal proteins and immunoglobulin regions. This signature appears pathogenetically supported and elucidates for the first time the role of ribosome dysfunction in ALA.

In summary of our findings with literature overview, we hypothesize that ALA development is associated not only with changes in genes, coding amyloidogenic protein itself, but with post-transcriptional disbalance as well. Based on our data analysis in ALA, ribosome machinery is impaired and the affected link mainly involves translational initiation, elongation and co-translational protein folding.

Immunoglobulin light-chain (AL) amyloidosis is a systemic amyloidosis characterized by extracellular accumulation of fibrillary deposits composed of monoclonal immunoglobulin light chain fragments. Detection of the amyloid requires a special dye. The gold standard is Congo red stain. Clinical manifestation of the AL amyloidosis is variable and nonspecific. Amyloid deposits in cardiac issues lead to biventricular wall thickening. On the other hand, the amount of cardiomyocytes decreases, which manifests as a low QRS amplitude. The standard electro- and echocardiography may assist in the diagnosis of AL amyloidosis.

The aim of the study is to present the possibilities of using a standard electrocardiography and an echocardiography for diagnosis of a rare immunoglobulin AL amyloidosis.

This is the case of a 60-year-old woman who suffered from progressive fatigue, weight loss, diarrhea lasting for two years and recurrent syncope, hypotension, and dyspnea for six months. Routine diagnostic tests did not explain the cause of her symptoms. Electrocardiography revealed a low QRS voltage. An echocardiogram showed thickening of the left and right ventricular walls. The histological examination with Congo red staining revealed the amyloid deposits. The primary λ-light chain amyloidosis of heart, kidneys, autonomic nerves and soft tissue was diagnosed.

We presented a typical case of immunoglobulin AL amyloidosis, which was detected thanks to characteristic electro- and echocardiographic findings.

The coexistence of multiorgan dysfunction and the thickening of ventricular walls as shown by echocardiography combined with the lack of hypertrophy electrocardiographical features enables us to diagnose amyloidosis intravitally.