ment. Continuous health monitoring and functional status, for those with CHD is imperative. Some families are not provided adequate teaching, including to continue cardiac follow up throughout the lifespan. Despite a background in cardiac care, there were limited to no resources regarding CHD and travel to the nearest CHD specialist was a grueling two hours away. The TET spells became more frequent and more severe up to 2 ½ years old, when surgery was then emergent.

Down syndrome occurs when an individual has a full or partial copy of chromosome 21. There are 47 chromosomes in each cell instead of 46. Down syndrome is a major cause of CHD. 65% of heart defects are atrio ventricular septal defects. The additional genetic material alters the course of development. In the general population, mutations in 6-8 different genes are required to produce a heart defect. Characteristic heart defects derive from the abnormal development of the endocardial cushions (two areas of thickening that eventually develop the wall of the heart that separates the 4 chambers).

The common heart defects in Down syndrome are Endocardial cushion defect, A-V septal defect, ventricular septal defect, Tetralogy of Fallot, and others.

The biology of the lungs in Down syndrome are significant due to the smaller amount of the lung’s functional unit, called alveoli, where gas exchange takes place between air in the lungs and the blood in the tiny capillaries of the lungs. These changes are important to the understanding of cardiopulmonary issues, respiratory tract infection, aspiration, and immunity. Genetically, the influence of Trisomy 21 on the immune system may impact the risk for viral and bacterial infections and cardiopulmonary function. Differences include a narrow upper respiratory tract, smaller trachea, hypotonia, and lung vascular issues.

According to the 2018 American Heart Association scientific journal CIRCULATION, patients with CHD are not cured of their dis

disease after successful treatment in childhood. Almost all patients with Adult Congenital Heart Disease will have sequela of either their native (original) CHD or it’s surgical repair or palliation, although these sequelae can take decades to manifest.

UNDERSTANDING OF CARDIAC HEALTH AND IMPLICATIONS IN DOWN SYNDROME IS A REQUIREMENT FOR STRATEGIZING OPTIMUM SCREENING TO COORDINATE PERSON AND FAMILY CENTERED OBJECTIVES WITH THE GOALS FOR LIFELONG CARE MANAGEMENT.

CHD requires long-term monitoring, regular cardiology follow-up, understanding of consequence for a particular defect or repair and endocarditis prophylaxis. Bacterial Endocarditis is a serious and sometimes fatal bloodstream infection, affecting the heart’s inner lining and often involving the heart valves. It can occur with common daily activities (tooth brushing/flossing/ chewing food, etc.), poor dentition and prior endocarditis

People with CHD are at high risk for developing bacterial endocarditis. Symptoms include fever, chills, unex

plained rashes, nailbed hemorrhages, painful sores, muscle aches, fatigue and possible red spots on palms/feet. Management includes recognizing signs of symptoms and prompt medical care. Heart valve vegetations can cause emboli (blood clot), damage heart valves and require open heart surgery. Lifelong care includes carrying a descriptive card, ongoing follow up with an Adult Congenital Disease Cardiologist, advocating to obtain blood culture samples BEFORE antibiotics, and providing prophylactic antibiotics prior to dental or invasive procedures. These guidelines are outlined by the American Heart Association/American College of Cardiology evidence-based management of adults with CHD.

One year following our son Danny's correction of TOF, he developed septic shock, multisystem failure with poor cardiac function, and an enlarged liver that compressed his right ventricle. The physician noted "it is unfortunate that he received so many antibiotics prior to hospitalization, because it has clouded the picture for us." Subsequently, multiple blood clots impaired the function of his spleen and he spent one month in Intensive Care at a tertiary medical center.