Genetic Syndromes and Associated Cariovascular Anomalies in Adults: A Singapore Perspective
- Author:
Farhad Vasanwala
- Publication Type:Journal Article
- Keywords:
Common genetic conditions;
Congenital heart disease;
Cardiac complications;
Chromosomal microarray analysis;
Prenatal testing
- From:The Singapore Family Physician
2019;45(1):36-43
- CountrySingapore
- Language:English
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Abstract:
Children with genetic syndromes are increasingly surviving to adulthood in Singapore. This is due to early detection and significantly improved multi-dimensional care. Congenital heart disease is one of the characteristic abnormalities in patients. However, the cardiac anomalies of some of these patients may only manifest later in early adulthood. A significant number of such patients are not on regular medical follow-ups to monitor for future complications. This article describes based on the common syndromic conditions that are present in Singapore. Advanced genetic tests like chromosomal microarray analysis can help diagnose these syndromes that are not obvious clinically, thus instituting appropriate management and treatment for such patients. Creating awareness of such syndromes and its cardiac complications will translate to them being referred to the cardiologists to prevent further morbidity and mortality. Timely counselling regarding fertility, prenatal testing and complications due to pregnancy are also discussed in this article.
