Formed under the stewardship of the SingHealth Duke-NUS Genomic Medicine Centre (SDGMC), the Clinic is the first specialty genetic service at NHCS to help patients with genetic disorders or conditions with a suspected genetic basis.

Helmed by Dr Saumya Shekhar Jamuar, Head of SDGMC and Senior Consultant, Paediatrics, Genetics Service from KK Women’s and Children’s Hospital and a team of genetic counsellors, the Clinic currently sees the following types of patients:

• Individuals with a family history of an inherited cardiac condition, sudden death, and/or a known causative genetic variant;
• Individuals with an established clinical diagnosis who would like to understand why they developed a cardiac condition and/or the risk to family members or future children 
• Individuals whose aetiology and associated cardiac condition is not clear;

“The identification of an underlying genetics basis for many cardiovascular conditions has evolved in the past decade and recognised to have significant implications for patient management. Many cardiology practice guidelines incorporate genetic data in the recommendations for diagnosis and clinical management. Genetic testing can help in establishing a definitive, aetiologically based diagnosis,” explained Dr Saumya on why there is a need to set up a dedicated service at NHCS.

He added that establishing an inherited cardiac condition is a multi-stage process, involving the collection of family history, recognition of phenotypes associated with inherited cardiac conditions, facilitation of relevant genetic testing and the interpretation of the genetic test results.

If a genetic cause for an inherited cardiac condition is indeed established, testing can be offered to asymptomatic family members for preclinical diagnosis and management. For example, a family member who has been found to have inherited the familial genetic variant will require regular cardiac follow-up as compared to a family member who does not have the genetic variant. 

Prof Terrance Chua, Medical Director shared, “This service is a significant milestone for us. By working closely with NHCS cardiologists, the Clinic can provide cardiovascular evaluation, genetic counselling and testing for our patients with, or who are at risk of, inherited cardiac conditions to improve our clinical management and patient care.”

Positive impact on cardiac patients and their families Dr Yan Limin, Associate Consultant from the Department of Cardiology recently referred a patient with early onset aortic dissection whose height was suggestive of Marfan syndrome, an inherited congenital disorder affecting the connective tissue of the heart, eye, bone and other organs, “The patient didn’t meet the full criteria of Marfan syndrome and could also be associated with other systemic aortopathies such as Loeys-Dietz or Ehlers Danlos syndrome, which are also inherited disorders. Genetic testing will allow us to confirm his diagnosis and understand the impact on his family.”

For another pair of patients, a couple whose child was diagnosed with Tetralogy of Fallot, a birth defect that affects blood flow through the heart, and had undergone exome sequencing, the Clinic will return the results to the couple which will not only help the couple to understand the results but also implications for future children. Ms Yasmin Bylstra, Principal Genetic Counsellor, said, “Patients will receive education and support regarding their diagnosis or cardiac family history, and information regarding how the condition is inherited in the family.” Indeed, the service hopes to offer patients a deeper understanding of the genetics behind their inherited cardiac condition, as well as the risks for themselves and their family members.

REFER A PATIENT

If you have a patient with a suspected inherited cardiovascular disease, you may refer them to the NHCS Cardiogenetics Clinic by the following contacts:
Tel: 6704 2222
Fax: 6222 9258
Email: central.appt@nhcs.com.sg

The types of conditions that can be seen in the clinic include:

• Channelopathies e.g. Long QT Syndrome
• Cardiomyopathies e.g. Hypertrophic cardiomyopathy, Dilated cardiomyopathy
• Systemic aortopathies e.g. Marfan syndrome
• Non-systemic aortopathies e.g. Familial thoracic aortic aneurysm and dissection
• Connective tissue disorder e.g. Ehlers Danlos syndrome
• Familial hypercholesterolemia
• Sudden unexplained death in the family
• Congenital heart disease syndromes
• Other cardiovascular conditions deemed to benefit from genetic testing by the specialist