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Loong et al. J Transl Genet Genom 2023;7:27-49 https://dx.doi.org/10.20517/jtgg.2022.20 Page 47

Figure 4. Radiographic images taken of the proband’s heart. Images were taken five years after the patient underwent a modified
Bentall procedure. (left) MRI image of the patient’s heart post-modified Bentall procedure. (right) Three-dimensional reconstruction of
the heart, using cardiac CT scans.

Given the diagnosis of MFS and a dilated aortic root, a modified Bentall procedure was carried out to
definitively correct the aortic root dilation, and beta-blocker therapy was initiated. Cascade testing was
irrelevant because there were no known extended family members, and both parents of the patient were
deceased at the time of diagnosis. Five years after the bioprosthetic conduit insertion, a subaortic false
aneurysm was detected on cardiac MRI during follow-up, and the patient underwent a definitive patch
repair of the aneurysm [Figure 4]. Since her diagnosis and the initiation of appropriate management plans,
the patient has been managing well (ten years since diagnosis).

This case displayed the relevance of a genetic test even when clinical features and family history were clear.

CONCLUSION
The clinical framework and considerations described in this review offer clinicians and researchers an
overview of what goes on in an ICC clinic and the variety of cases seen, ranging from cardiomyopathies and
arrhythmias to aortopathies. While significant issues must be overcome before such a service can be
implemented in healthcare centers, it is nevertheless necessary, owing to the evident burdens and needs in
the community. We discussed the challenges and benefits of this service for patients and clinicians.

DECLARATIONS
Authors’ contributions
Contributed to the conception and design of the study: Loong SSE, Gan LH, Klinzing DC, Tomar S, Foo
RSY
Contributed to the writing of the manuscript as well as administrative, technical, and material support:
Loong SSE, Gan LH, Lim YC, Ng MMQ, Wang Y, Koo SH, Chew NWS, Yeo C, Tan VH, Leong KMW,
Wong RCC, Lin W, Kuntjoro I, Klinzing DC, Tomar S, Foo RSY