Oxalic Cardiomyopathy

Toro, Alessandro Di; Urtis, Mario; Giuliani, Laura; Pellegrini, Carlo; Smirnova, Alexandra; Galato, R; Valentini, Adele; Jallous, Hussein; Scaccabarozzi, Sergio; Arbustini, Eloisa

doi:10.1016/j.jacc.2021.06.039

Cited by 6 publications

(3 citation statements)

References 5 publications

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“…Subcutaneous administration in animals shows 98% reduction in Uox ( Liebow et al, 2017 ). Current experience with Lumasiran has been reported in both children and adults with PH1, with no specific side effects ( Chiodini et al, 2021 ; Di Toro et al, 2021 ; Stone et al, 2021 ; Aldabek et al, 2022 ; Joher et al, 2022 ; Méaux et al, 2022 ). Good responsiveness has been shown in children.…”

Section: Discussionmentioning

confidence: 99%

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

et al. 2023

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Background: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by excessive accumulation of oxalate in plasma and urine, resulting in various phenotypes due to allelic and clinical heterogeneity. This study aimed to analyze the genotype of 21 Chinese patients with primary hyperoxaluria (PH) and explore their correlations between genotype and phenotype.Methods: Combined with clinical phenotypic and genetic analysis, we identified 21 PH patients from highly suspected Chinese patients. The clinical, biochemical, and genetic data of the 21 patients were subsequently reviewed.Results: We reported 21 cases of PH in China, including 12 cases of PH1, 3 cases of PH2 and 6 cases of PH3, and identified 2 novel variants (c.632T > G and c.823_824del) in AGXT gene and 2 novel variants (c.258_272del and c.866-34_866-8del) in GRHPR gene, respectively. A possible PH3 hotspot variant c.769T > G was identified for the first time. In addition, patients with PH1 showed higher levels of creatinine and lower eGFR than those with PH2 and PH3. In PH1, patients with severe variants in both alleles had significantly higher creatinine and lower eGFR than other patients. Delayed diagnosis still existed in some late-onset patients. Of all cases, 6 had reached to end-stage kidney disease (ESKD) at diagnosis with systemic oxalosis. Five patients were on dialysis and three had undergone kidney or liver transplants. Notably, four patients showed a favorable therapeutic response to vitamin B6, and c.823_824dup and c.145A > C may be identified as potentially vitamin B6-sensitive genotypes.Conclusion: In brief, our study identified 4 novel variants and extended the variant spectrum of PH in the Chinese population. The clinical phenotype was characterized by large heterogeneity, which may be determined by genotype and a variety of other factors. We first reported two variants that may be sensitive to vitamin B6 therapy in Chinese population, providing valuable references for clinical treatment. In addition, early screening and prognosis of PH should be given more attention. We propose to establish a large-scale registration system for rare genetic diseases in China and call for more attention on rare kidney genetic diseases.

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Section: Discussionmentioning

confidence: 99%

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

et al. 2023

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“…kidney–liver transplant in primary hyperoxaluria). 13 The new guidelines offer the combination of all needed investigations to provide a precise diagnosis and appropriate treatment for each patient.…”

Section: The Impact Of Guidelines On Genetic Workupmentioning

confidence: 99%

The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions

Grasso,

Bondavalli,

Vilardo

et al. 2024

European Heart Journal Supplements

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In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as ‘myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality’. They are morpho-functionally classified as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy with the addition of the left ventricular non-dilated cardiomyopathy that describes intermediate phenotypes not fulfilling standard disease definitions despite the presence of myocardial disease on cardiac imaging or tissue analysis. The new ESC guidelines provide ‘a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations’. The recommendations and suggestions included in the document provide the tools to build up pathways tailored to specific cardiomyopathy (phenotype and cause) and define therapeutic indications, including target therapies where possible. The impact is on clinical cardiology, where disease-specific care paths can be assisted by the guidelines, and on genetics, both clinics and testing, where deep phenotyping and participated multi-disciplinary evaluation provide a unique tool for validating the pathogenicity of variants. The role of endomyocardial biopsy remains underexploited and confined to particular forms of restrictive cardiomyopathy, myocarditis, and amyloidosis. New research and development will be needed to cover the gaps between science and clinics. Finally, the opening up to disciplines such as bioinformatics, bioengineering, mathematics, and physics will support clinical cardiologists in the best governance of the novel artificial intelligence–assisted resources.

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“…So far, 23 patients outside of clinical trials have been described, mostly from single-center experiences under variable conditions. 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 We report treatment with lumasiran in a large group of patients with PH1 with different renal functions from 12 European centers.…”

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confidence: 99%

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

Martin-Higueras,

Borghese,

Torres

et al. 2024

Kidney International Reports

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Oxalic Cardiomyopathy

Cited by 6 publications

References 5 publications

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

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