Common Arterial Trunk / Truncus Arteriosus
from OrphaChat — a Rare Disease Podcast Hosted by RCH
These sources collectively examine truncus arteriosus, a rare congenital heart defect where a single large vessel fails to separate into the aorta and pulmonary artery. The documentation covers genetic origins, such as 22q11.2 deletion syndrome and newly identified variants in the TMEM260 gene, alongside fetal diagnostic methods and surgical repair techniques like the Rastelli procedure. Clinical research highlights modern advancements in partial heart transplantation, which offers the potential for living valve tissue to grow with the patient and reduce future reinterventions. Long-term management strategies are discussed for adults with congenital heart disease, focusing on the necessity of multidisciplinary care for heart failure and pregnancy. Finally, the texts emphasise the importance of neurodevelopmental support and specialised geriatric care as the population of survivors continues to expand.
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