Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.

Participants are invited to participate in this study because they have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart. This study will recruit 30 subjects from National Heart Centre Singapore over a period of 1 year.

For clinically diagnosed Marfan disease, a genetic test in a gene called FBN1 will be carried out to confirm the presence of gene mutation that is suspected to cause the disease. It is important for them to know that any research finding that indicates the presence of this gene mutation may only suggest a pre-disposition to Marfan disease, but it does not definitely ascertain that gene has caused the disease or predict that they will develop the disease. Further independent clinical genetic testing may be made available, should they so desire after consulting their doctor or genetic counsellor.

The skin obtained during the course of this study will be used for this study only and will be stored and analysed for the purposes of this study only, for a period not exceeding 5 years for research studies and experimental transplant studies, and will be destroyed after completion of the study, unless they agree to donate the samples to National Heart Centre Singapore for continuous storage for future studies that are approved by Institutional review board. The blood will however be stored indefinitely in National Heart Centre for future research on molecular, imaging and outcome studies of cardiovascular health and disease.

Inclusion Criteria:

• Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation

Exclusion Criteria:

• No