Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Dec 10:25:100693.
doi: 10.1016/j.ymgmr.2020.100693. eCollection 2020 Dec.

Cardiovascular findings in classic homocystinuria

Marco Antônio Baptista Kalil  1 , Karina Carvalho Donis  2   3 , Fabiano de Oliveira Poswar  2 , Bruna Bento Dos Santos  3 , Ângela Barreto Santiago Santos  4   5 , Ida Vanessa Doederlein Schwartz  2   3
Affiliations

Cardiovascular findings in classic homocystinuria

Marco Antônio Baptista Kalil et al. Mol Genet Metab Rep. .

Abstract

Objective: describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria.

Methods: this retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years; male n = 8, B6-non-responsive n = 9 patients), recruited by convenience sampling from patients seen Hospital de Clínicas de Porto Alegre (Brazil), between January 1997 and July 2020. Data on clinical findings, echocardiogram and electrocardiogram were retrieved from medical records.

Results: Eight patients presented some abnormalities on echocardiogram (n = 6) or electrocardiogram (n = 5). The most frequent finding was mild tricuspid regurgitation (n = 3), followed by mitral valve prolapse, mild mitral regurgitation, enlarged left atrium and aortic valve sclerosis (n = 2 patients each). Aortic root ectasia was found in one patient. Venous thrombosis was reported in six patients: deep vein thrombosis of lower limbs (n = 3), ischaemic stroke (n = 1), cerebral venous sinus thrombosis (n = 1) and pulmonary vein thrombosis (n = 1).

Conclusion: mild valvulopathies seen to be common in patients with Classic Homocystinuria, but more studies regarding echocardiogram and electrocardiogram in this population are needed to draw absolute conclusions.

Keywords: Cardiovascular findings; Classic Homocystinuria; Cystathionine β-synthase deficiency; Echocardiogram; Electrocardiogram.

PubMed Disclaimer

References

    1. Morris A.A., Kožich V., Santra S., Andria G., Ben-Omran T.I., Chakrapani A.B. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J. Inherit. Metab. Dis. 2017;40(1):49–74. - PMC - PubMed
    1. Weber Hoss G.R., Sperb-Ludwig F., Schwartz I.V.D., Blom H.J. Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. Mol Genet Genomic Med. 2020 Jun;8(6) doi: 10.1002/mgg3.1214. e1214. Epub 2020 Mar 30. PMID: 32232970; PMCID: PMC7284035. - DOI - PMC - PubMed
    1. Mudd S.H., Skovby F., Levy H.L. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 1985;37:1–31. - PMC - PubMed
    1. Magner M., Krupkova L., Honzik T., Zeman J., Hyanek J., Kozich V. Vascular presentation of cystathionine beta-synthase deficiency in adulthood. J. Inherit. Metab. Dis. 2011;34:33–37. - PMC - PubMed
    1. Mudd S., Levy H., Skovby F. McGraw-Hill Professional; New York, NY, USA: 2001. Disorders of Transulfuration in Scriver C. R., Editor; Beaudet a. L., Editor;, sly W. S., Editor; & Valle D., Editor. (Eds.), the Metabolic and Molecular Bases of Inherited Disease; pp. 2007–2056.

LinkOut - more resources