-
Case Reports
A Clinical Diagnosis of Laminopathy without Systolic Dysfunction: When does Nuclei Malformation Start?
- Naoya Kataoka, Teruhiko Imamura, Makiko Nakamura, and Koichiro Kinugawa.
- Second Department of Internal Medicine, University of Toyama, Japan.
- Intern. Med. 2024 Feb 1; 63 (3): 403406403-406.
AbstractNuclear shape abnormalities in laminopathy are well known to occur in patients with cardiac systolic dysfunction. However, those in patients without systolic dysfunction are still unclear. We herein report a 42-year-old man who presented with advanced atrioventricular block without systolic dysfunction. Genetic testing identified a laminopathic mutation, c.497G>C, and an endocardial biopsy was performed. The hyperperfine structure on electron microscopy showed malformation of the nuclei, euchromatic nucleoplasm, and partial existence of heterochromatin clumps. Intrusion of heterochromatin into the nuclear fibrous lamina was observed. Cardiomyocyte nuclear shape abnormalities were observed before the progression of systolic dysfunction.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*
,_underline_
or**bold**
. - Superscript can be denoted by
<sup>text</sup>
and subscript<sub>text</sub>
. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3.
, hyphens-
or asterisks*
. - Links can be included with:
[my link to pubmed](http://pubmed.com)
- Images can be included with:
![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
- For footnotes use
[^1](This is a footnote.)
inline. - Or use an inline reference
[^1]
to refer to a longer footnote elseweher in the document[^1]: This is a long footnote.
.