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
Case Reports
. 2024 Jan 23;29(5):102215.
doi: 10.1016/j.jaccas.2023.102215. eCollection 2024 Mar 6.

Persistent Prothrombotic State in a Patient With Alström Syndrome

Nihit Shah  1 , Zeina Abu Orabi  1 , Adrian T Warfield  2   3 , Richard Steeds  1   4 , Peysh A Patel  1   4
Affiliations
Case Reports

Persistent Prothrombotic State in a Patient With Alström Syndrome

Nihit Shah et al. JACC Case Rep. .

Abstract

We present the case of a patient with Alström syndrome who was found to have evidence of a prothrombotic state on autopsy after sudden cardiac death. To the best of our knowledge, this case of persistent prothrombotic milieu is the first described in a patient with Alström syndrome.

Keywords: Alström syndrome; CRTD; LV thrombus; persistent prothrombotic state.

PubMed Disclaimer

Conflict of interest statement

The authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Figures

None
Graphical abstract
Figure 1
Figure 1
CMR Images CMR images in short-axis (A) and long-axis (B) views showing extensive patchy late gadolinium enhancement. CMR = cardiac magnetic resonance.
Figure 2
Figure 2
TTE TTE in zoomed apical 4 chamber view revealing presence of apical thrombus. TTE = transthoracic echocardiography.
Figure 3
Figure 3
Post-mortem Examination of the Heart (A) Transverse midseptal slice of the left ventricle showing concentric hypertrophy. (B) Right atrium/ventricle opened along the lateral border, revealing pacing lead ensheathed in thrombus. (C) Transverse slice of left ventricle showing thrombus at apex of left ventricle. (D) Main pulmonary trunk opened anteriorly, showing thrombus occluding the origin of the left pulmonary artery.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Marshall J.D., Maffei P., Beck S., Barrett T.G., Paisey R., Naggert J.K. Clinical utility gene card for: Alström syndrome - update 2013. Eur J Hum Genet. 2013;21 doi: 10.1038/ejhg.2013.6. - DOI - PMC - PubMed
    1. Marshall J.D., Beck S., Maffei P., Naggert J.K. Alström syndrome. Eur J Hum Genet. 2007;15:1193–1202. - PubMed
    1. Li G., Vega R., Nelms K., Gekakis N., Goodnow C., McNamara P., et al. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007;3:e8. - PMC - PubMed
    1. Álvarez-Satta M., Castro-Sánchez S., Valverde D. Alström syndrome: current perspectives. Appl Clin Genet. 2015;8:171–179. - PMC - PubMed
    1. Hoffman J.D., Jacobson Z., Young T.L., Marshall J.D., Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005;135:96–98. - PubMed

Publication types

LinkOut - more resources