Introduction

Every year, on February 14th, we come together to raise awareness for World Congenital Heart Defect (CHD) Awareness Day. This significant day serves as a reminder of the millions of children and adults around the world who are affected by CHD, as well as the importance of early detection, proper treatment, and ongoing support for those living with this condition.

Definition of congenital heart defect

Congenital Heart Defects are structural abnormalities of the heart that are present at birth. These defects can affect the walls, valves, or blood vessels of the heart, disrupting normal blood flow and leading to various health complications. They are the most common birth defects, affecting approximately 1 in every 100 newborns worldwide.

The causes of CHD can vary, including genetic factors, environmental influences, or a combination of both. 

The importance of Whole Genome Sequencing for Congenital Heart Defect

Whole Genome Sequencing (WGS) has emerged as a revolutionary tool in the field of genetic analysis. By decoding an individual's entire DNA sequence, WGS allows for a comprehensive understanding of their genetic makeup, including the identification of potential genetic variations or mutations related to congenital heart defects.

WGS plays a crucial role in the diagnosis, prognosis, and management of CHD. It can help identify specific genes or genetic variants associated with certain types of heart defects, enabling healthcare professionals to provide personalized and precise care to patients. Early detection through WGS can lead to timely interventions, improved outcomes, and better quality of life for those affected by CHD.

Fallot’s Tetralogy 

Fallot's Tetralogy is one of the most common types of congenital heart defects. It involves a combination of four heart abnormalities: a ventricular septal defect (hole in the wall between the heart's lower chambers), pulmonary stenosis (narrowing of the pulmonary valve and artery), overriding aorta (the aorta is shifted to the right, straddling both ventricles), and right ventricular hypertrophy (thickening of the right ventricle's muscle wall).

Dante Fallot’s Tetralogy Panel

This panel screens for genetic variants associated with Fallot's tetralogy and related conditions, such as pulmonary atresia and double outlet right ventricle. These conditions can cause symptoms such as cyanosis (blue-tinted skin), shortness of breath, and poor growth, and can lead to complications such as heart failure and arrhythmias.

This panel is useful for individuals with a family history of congenital heart defects or individuals with symptoms such as cyanosis, shortness of breath, or poor growth.

• Based on Whole Genome Sequencing
• More than 120 genes analyzed
• Investigates SNP and Indel mutations up to 150 bp

Conclusion

On World Congenital Heart Defect Awareness Day, let us unite to raise awareness, support affected individuals and families, and advocate for better research, diagnosis, and treatment options. Through education, early detection, and advancements in genetic analysis like WGS, we can provide hope and improve the lives of those living with congenital heart defects.

Join us in spreading awareness, sharing stories of strength and resilience, and supporting organizations dedicated to CHD research and support. Together, we can make a difference and create a world where every individual affected by congenital heart defects receives the care, support, and love they deserve.