Berends, Milou (2024) Multi gene panel analysis has limited additional value compared to transthyretin gene analysis only in patients with suspected cardiac amyloidosis. thesis, Medicine.
Full text available on request.Abstract
Background: Distinguishing between hereditary and non hereditary types of cardiac amyloidosis through genetic analysis has treatment implications and is relevant for relatives Aim: To evaluate the diagnostic yield of multi gene panel analysis in patients with suspected cardiac amyloidosis. Method: All consecutive patients with suspected cardiac amyloidosis without a known family history of hereditary amyloidosis referred to the University Medical Center Groningen between 2017 and 2023 were enrolled. Patients underwent genetic analysis using the multi gene panel Amyloidosis. The results of genetic analysis were related to the findings on bone scintigraphy which is routinely used to diagnose cardiac transthyretin amyloidosis (ATTR CM). Strong cardiac tracer uptake (Perugini grade 2 3) indicates ATTR CM. Results: In total, 246 unrelated patients were included, of whom fourteen (5.7%) had a pathogenic variant. Ten patients had a v ariant in the TTR gene and Perugini grade 2 3 indicative of ATTR CM. One patient had a variant in the A PO A I gene consistent with A A poAI amyloïd in fat tissue biopsy. Three other patients had a pathogenic variant in other amyloidosis associated genes, but these variants could not be related to the cardiomyopathy. Family analysis identified fourteen relatives with the pathogenic familial variant Conclusion: The yield of multi gene panel analysis in patients with suspected cardiac amyloidosis was 4.5% (fourteen pathogenic variants of which eleven could be related to the cardiomyopathy)cardiomyopathy). Through multi gene panel analysis , ten patients with hereditary ATTR amyloidosis were identified. These patients would have also been identified with the current clinical diagnostic approach (only TTR gen otyping by Perugini grade 2 3)3). Multig ene panel analysis can provide add ed value in suspected cardiac amyloidosis with Perugini grade 0 1 on bone scintigraphy compared to only TTR genotyping. Family testing contributes to the early detection and treatment of the disease.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | van der Zwaag, P.A. |
| Faculty: | Medical Sciences |
| Date Deposited: | 27 Aug 2024 11:14 |
| Last Modified: | 27 Aug 2024 11:14 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3746 |
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