Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease

Limongelli, Giuseppe; Masarone, Daniele; Verrengia, Marina; Gravino, Rita; Salerno, Gemma; Castelletti, Silvia; Rubino, Marta; Marrazzo, Tommaso; Pisani, Antonio; Cecchi, Francesca; Elliott, Perry; Pacileo, Giuseppe

doi:10.4103/jcecho.jcecho_2_18

Cited by 13 publications

(13 citation statements)

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“…In literature, inherited aortopathies are well known to be associated with genetic syndromes (e.g., Marfan syndrome) and collagen disease (e.g., Ehlers Danlos), or with familial diseases (e.g., bicuspid aortic valve aortopathy) [15]. Cardiac involvement in LSD generally involves the heart muscle and cardiac valves [14][15][16][17][18]. However, a growing field of interest is the study of the aortic size in LSDs [8][9][10][11].…”

Section: Discussionmentioning

confidence: 99%

“…FD is an X-linked recessive LSD due to mutations in the gene encoding for the α-galactosidase (GLA), leading to the accumulation of globotriaosylceramide in the cells of various tissues with con-sequent multi-organ dysfunction [11,12]. Clinical manifestations of FD include systemic vasculopathy resulting in a markedly increased risk of ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction, and chronic kidney disease [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

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Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

et al. 2020

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Introduction Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. Methods We measured the aortic diameters in 15 KO male mice, 5 for each LSD: 5 GLA-/mice for FD, 5 NAGLU-/mice for MPS IIIB, 5 GAA-/mice for PD, and 15 wild type (WT) mice: 5 for each strain. In order to compare the aortic parameters between KO and WT mice deriving from the same colonies, different diameters were echocardiographically measured: aortic annulus, aortic sinus, sino-tubular junction, ascending aorta, aortic arch and descending aorta. Storage material content and aortic defects of the KO mice were also analyzed by histology, when available. Results Compared to their correspondent WT mice: GAA-/mice showed greater diameters of ascending aorta (1.61mm vs. 1.11mm, p-value = 0.01) and descending aorta (1.17mm vs

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

et al. 2020

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“…The molecular basis of inherited disorders like hypertrophic cardiomyopathy is quite clearly identified. Mutations in sarcomeric genes account for about 60% of cases of hypertrophic cardiomyopathy [ 42 , 43 ]. Notwithstanding this, a genetic alteration in sarcomeric genes is lacking in up to one third of patients, so that the diagnosis of hypertrophic cardiomyopathy remains clinical rather than genetic [ 44 ].…”

Section: What Is a Phenocopy?mentioning

confidence: 99%

Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome

Becherucci

Landini

Cirillo

et al. 2020

IJERPH

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Steroid-resistant nephrotic syndrome (SRNS) is a clinical picture defined by the lack of response to standard steroid treatment, frequently progressing toward end-stage kidney disease. The genetic basis of SRNS has been thoroughly explored since the end of the 1990s and especially with the advent of next-generation sequencing. Genetic forms represent about 30% of cases of SRNS. However, recent evidence supports the hypothesis that “phenocopies” could account for a non-negligible fraction of SRNS patients who are currently classified as non-genetic, paving the way for a more comprehensive understanding of the genetic background of the disease. The identification of phenocopies is mandatory in order to provide patients with appropriate clinical management and to inform therapy. Extended genetic testing including phenocopy genes, coupled with reverse phenotyping, is recommended for all young patients with SRNS to avoid unnecessary and potentially harmful diagnostic procedures and treatment, and for the reclassification of the disease. The aim of this work is to review the main steps of the evolution of genetic testing in SRNS, demonstrating how a paradigm shifting from “forward” to “reverse” genetics could significantly improve the identification of the molecular mechanisms of the disease, as well as the overall clinical management of affected patients.

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“…The most relevant feature on echocardiogram is the left ventricular hypertrophy (LVH) with normal ejection fraction, similar to hypertrophic cardiomyopathy (HCM). 7 CMR can play a central role in differentiating AFD from HCM and can detect early cardiac involvement, assessing ventricular function and tissue characterization by means of late gadolinium enhancement (LGE) and T1 mapping. 8 The diagnostic assessment for AFD is beyond the scope of this review.…”

Section: Gene Therapy In Anderson-fabry Diseasementioning

confidence: 99%

Gene Therapy in Anderson-Fabry Disease. State of the Art and Future Perspectives

et al. 2020

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Anderson Fabry disease (AFD) is an Xlinked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in the lysosomes. As of now, enzyme replacement therapy is the only approved treatment for AFD. However, it does not induce a complete and lasting response in several clinical contexts. Genemediated enzyme replacement is an emerging approach that could overcome these limits. The single gene nature of AFD enhances the possibility to transfect and modify a small number of cells, making them capable to affect the correction of a larger number of cells. This review summarizes the history and the state of the art of gene therapy in AFD, showing potential benefits and limits.

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Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease

Cited by 13 publications

References 26 publications

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome

Gene Therapy in Anderson-Fabry Disease. State of the Art and Future Perspectives

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