Heart transplantation in cardiac storage diseases: data on Fabry disease and cardiac amyloidosis

Abstract

Purpose of review To deeply investigate one type of intracellular cardiac storage disease, the Fabry disease and one example of extracellular cardiac storage disease, the cardiac amyloidosis, with the aim to collect data about cardiac treatment at the end-stage level and the feasibility of heart transplantation (HTx) in this setting of patients. Recent findings Some registry describes that Fabry disease and cardiac amyloidosis showed similar characteristics as hypertrophic cardiomyopathies; thus, their correct diagnosis is often missing or time consuming. A multiorgan approach is mandatory to recognize the main systemic findings of these diseases, involving also the kidneys, the brain, the autonomous system and the skin. Summary The early diagnosis of these diseases is required to start as soon as possible the correct therapy for the patients affected. However, the end-stage heart failure is common and HTx could be offered to selected patients, especially if affected by light chain cardiac amyloidosis, to allow to perform the autologous stem cell transplantation after the cardiac transplant. Considering the Fabry disease patients, the enzyme recombinant therapy is also mandatory after HTx to avoid potential release of the systemic disease on the donor graft.

Failures of the Fontan System in Univentricular Hearts and Mortality Risk in Heart Transplantation: A Systematic Review and Meta-Analysis

“…Acute onset of congestive HF possible expression of a rare form of dilated cardiomyopathy; Fabry disease that is an X-linked lysosomal storage disorder caused by mutations in the a-galactosidase A gene (GLA) that leads to reduced or undetectable a-galactosidase A (AGAL) enzyme levels and progressive accumulation of glycolipids-primarily globotriaosylceramide (Gb3) and its deacylated form, lysoGb3, in cells throughout the body including vascular endothelial and smooth muscle cells and cardiomyocytes. Heart disease is present in all forms of Fabry disease, with different grades of organ involvement, and the concentric left ventricular (LV) hypertrophy [116]. Systemic sclerosis that is a systemic autoimmune disease of heterogeneous pathogenesis in which vascular, cutaneous, and internal organ fibrosis are prominent [117], in the literature there are reports of successful HT [115][116][117]; however, each case should never fail to be evaluated individually, for patients with PF and specifically for patients with Failing Fontan, there is no doubt that the treatment is HT and the fact of knowing that the presence of a single fault that could be PLE, PB, HF, and arrhythmias are not associated with a greater risk of death.…”

Cardiac Rehabilitation in German Speaking Countries of Europe—Evidence-Based Guidelines from Germany, Austria and Switzerland LLKardReha-DACH—Part 1

“…The present guidelines did not evaluate patients with systemic diseases leading to myocardial failure including potential consequences with regard to HTX. This field needs to be worked out by the next update of the guideline [113,114].…”

Racial disparities in cardiac transplantation: Chronological perspective and outcomes

“…The field of heart transplantation has evolved significantly from the introduction of cyclosporine to improved donor organ preservation to use of mechanical circulatory support (MCS) devices and now ex-vivo perfusion of the donor heart [ 1 – 6 ]. All these incremental changes have improved waiting-list as well as post-transplant survival and expanded indications for recipient listing, and increased donor organ utilization, as over 3000 heart transplants are now performed annually in the United States since 2016 [ 5 , 7 ]. Still, the ever-increasing burden of heart failure (over 6 million patients) has kept donor organ shortage high [ 8 ].…”