ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone’s Complex With a Novel SON Variant and Focused Review of the Cardiac Manifestations in ZTTK Syndrome
John Coleman, Abdul L Shakerdi, Veronika Dvorakova, Janna Kenny, Abdullah Sezer · 2026
Read ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone’s Complex With a Novel SON Variant and Focused Review of the Cardiac Manifestations in ZTTK Syndrome by John Coleman, Abdul L Shakerdi, Veronika Dvorakova, Janna Kenny, Abdullah Sezer (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13583451.txt.
Description
John Coleman and co-authors report a new heart finding in a rare developmental syndrome in a 2026 paper. ZTTK syndrome stems from variants in a gene that splices RNA, and it affects many body systems. Heart defects appear in roughly a fifth of known cases, but one complex pattern had never been seen.
The patient is a four-year-old girl with developmental delay and epilepsy that one drug controls well. Genetic testing found a new frameshift variant in the gene, classed as disease-causing. Her heart shows Shone complex, a cluster of left-sided obstructions. The authors pair her case with a focused review of heart findings across reported patients. Her case widens the checklist cardiologists should use in this syndrome.
Catalog record
| CREATOR | John Coleman, Abdul L Shakerdi, Veronika Dvorakova, Janna Kenny, Abdullah Sezer |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |