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Review
. 2021 Feb;132(2):112-118.
doi: 10.1016/j.ymgme.2020.12.290. Epub 2020 Dec 25.

Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease

Carlos R Ferreira  1 , Nenad Blau  2
Affiliations
Review

Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease

Carlos R Ferreira et al. Mol Genet Metab. 2021 Feb.

Abstract

Inherited metabolic diseases account for 15-20% of all cases of pediatric cardiomyopathy, with a high mortality of 15-47%. Metabolic diseases can also commonly be associated with other types of cardiovascular involvement such as arrhythmias, valvulopathy or vasculopathy. We reviewed and updated the list of known metabolic etiologies associated with cardiovascular involvement, and found 246 relevant inborn errors of metabolism. This represents the fourth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Keywords: Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy; Inborn Error Of Metabolism; Left-Ventricular Non-Compaction; Metabolic cardiomyopathy; Restrictive Cardiomyopathy.

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Conflict of interest statement

Declarations of interest: none

Figures

Figure 1.
Figure 1.
Representative examples of different cardiovascular phenotypes in IEMs.
Figure 2.
Figure 2.
Occurrence (%) of symptoms associated with cardiovascular disorders in seven categories of IEMs. The percentages for cardiovascular involvement were calculated using as the denominator the total number of IEMs in each category presenting with any cardiovascular involvement. Heat scale ranges from red (0%) for diseases with no particular symptoms reported to violet (100%) for diseases with particular symptoms occurring with highly frequency. LVH: left ventricular hypertrophy, LV: left ventricular, ASD: atrial septal defect. For definition of seven categories of cardiovascular disorders see Supplemental Table 1. For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.
See this image and copyright information in PMC

References

    1. Ferreira CR, Hoffmann GF, Blau N, Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders, Mol. Genet. Metab 127 (2019) 28–30. doi:10.1016/j.ymgme.2019.03.007. - DOI - PMC - PubMed
    1. Ferreira CR, Cassiman D, Blau N, Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases, Mol. Genet. Metab 127 (2019) 117–121. doi:10.1016/j.ymgme.2019.04.002. - DOI - PMC - PubMed
    1. Horvath GA, Stowe RM, Ferreira CR, Blau N, Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations, Mol. Genet. Metab 130 (2020) 1–6. doi:10.1016/j.ymgme.2020.02.007. - DOI - PMC - PubMed
    1. Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N, Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism, Genet. Med. Off. J. Am. Coll. Med. Genet 20 (2018) 151–158. doi:10.1038/gim.2017.108. - DOI - PMC - PubMed
    1. Ferreira CR, van Karnebeek CDM, Vockley J, Blau N, A proposed nosology of inborn errors of metabolism, Genet. Med. Off. J. Am. Coll. Med. Genet 21 (2019) 102–106. doi:10.1038/s41436-018-0022-8. - DOI - PMC - PubMed

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