What is ONE gene mutation typically associated with Marfan’s syndrome?

Correct Answer: A

Rationale: Marfan's syndrome is a genetic disorder that affects the body's connective tissue, primarily in the cardiovascular, ocular, and skeletal systems. The gene mutation typically associated with Marfan's syndrome is FBN1, which encodes for fibrillin-1, a crucial component of microfibrils in the extracellular matrix. Mutations in FBN1 lead to structural weakness in connective tissue, resulting in the characteristic features of Marfan's syndrome. Option A (FBN1) is correct because mutations in this gene are well-documented in individuals with Marfan's syndrome. Option B (ACTA2) is associated with a different condition called familial thoracic aortic aneurysm and dissection, not Marfan's syndrome. Option C (SIX2) is related to developmental abnormalities in the kidney and not associated with Marfan's syndrome. Option D (TGFBR2) mutations are linked to Loeys-Dietz syndrome, another connective tissue disorder distinct from Marfan's syndrome. Understanding the genetic basis of Marfan's syndrome is crucial for healthcare providers, especially in pediatrics, as early diagnosis and management can significantly impact patient outcomes. Recognizing the specific gene mutation associated with Marfan's syndrome helps in providing targeted interventions and genetic counseling to affected individuals and their families.

Correct Answer: D

Rationale: In the diagnosis of incomplete Kawasaki Disease in pediatric patients, there are five criteria that healthcare providers look for. Option D, "All of the above," is the correct answer because it encompasses all the essential criteria for diagnosing incomplete Kawasaki Disease. Criteria A, fever for ≥7 days, is crucial as persistent fever is a hallmark feature of Kawasaki Disease. Criteria B, five days of fever with 2 or 3 compatible clinical criteria, is significant because the presence of specific clinical signs in addition to fever helps in identifying the disease. Criteria C, CRP ≥3.0mg/dL and/or ESR ≥40mm/h, is important as elevated inflammatory markers are commonly seen in Kawasaki Disease and aid in confirming the diagnosis. Educationally, understanding these criteria is vital for nurses caring for pediatric patients as Kawasaki Disease can lead to serious complications if not diagnosed and treated promptly. Recognizing the signs and symptoms early can help prevent long-term cardiac sequelae associated with this condition. Nurses play a key role in monitoring patients for these criteria and advocating for prompt treatment to prevent complications.

Correct Answer: A

Rationale: The correct answer is A) Sensitized recipients with panel reactive antibody (PRA). Patients with congenital heart disease (CHD) are more likely to experience rejection post-transplant compared to those with cardiomyopathy due to their increased likelihood of being sensitized recipients. CHD patients often require multiple surgeries and blood transfusions during their lifetime, leading to the development of antibodies against human leukocyte antigens (HLA) in the donated heart. These panel reactive antibodies (PRA) can recognize and attack the transplanted organ, triggering rejection. Option B) Absence of systemic disease is incorrect because the presence or absence of systemic disease is not a significant factor in the likelihood of rejection post-transplant in CHD patients. Option C) History of good compliance is incorrect as well because while compliance with post-transplant medications and follow-up care is important in preventing rejection, it is not the primary reason why CHD patients are more prone to rejection compared to those with cardiomyopathy. Understanding the factors that contribute to rejection post-transplant in pediatric patients with CHD is crucial for healthcare providers involved in their care. It underscores the importance of pre-transplant screening for panel reactive antibodies and the need for close monitoring and immunosuppressive therapy post-transplant to minimize the risk of rejection. This knowledge helps optimize patient outcomes and improve the success rates of heart transplants in pediatric populations with CHD.

Correct Answer: A

Rationale: In pediatric patients with congenital heart block, pacemaker insertion may be indicated for various reasons. The correct answer is "A) Symptomatic bradycardia." This is because symptomatic bradycardia can lead to significant hemodynamic compromise, inadequate perfusion, and can be life-threatening. Therefore, pacemaker insertion is crucial to maintain an adequate heart rate and ensure proper cardiac output. The incorrect options are B) Ventricular dysfunction or low cardiac output, C) Wide QRS escape, and D) Complex ventricular ectopy. While these conditions may be present in a child with congenital heart block, they are not primary indications for pacemaker insertion. Ventricular dysfunction or low cardiac output may be a consequence of bradycardia rather than a direct indication for pacemaker insertion. Wide QRS escape and complex ventricular ectopy may indicate the need for further evaluation but are not specific indications for pacemaker insertion in congenital heart block. In an educational context, understanding the indications for pacemaker insertion in pediatric patients with congenital heart block is essential for nurses and healthcare providers caring for these patients. It is crucial to recognize the signs and symptoms of symptomatic bradycardia and understand when pacemaker insertion is necessary to prevent adverse outcomes. This knowledge ensures timely intervention and appropriate management of these high-risk patients.

Correct Answer: A

Rationale: In a 2-week-old infant, a wide splitting of S2 during expiration is indicative of an atrial septal defect (ASD). The correct answer is A) Atrial septal defect (ASD). In ASD, there is a delay in the closure of the atrioventricular valves, leading to a wide splitting of S2. This delay allows more time for blood to flow from the right atrium to the left atrium, causing the characteristic sound. This finding is specific to ASD and helps differentiate it from other cardiovascular conditions in this scenario. Option B) Coarctation of the aorta (COA) typically presents with hypertension in the upper extremities and weak or absent pulses in the lower extremities, not with S2 splitting. Option C) Patent ductus arteriosus (PDA) may present with a continuous heart murmur and bounding pulses but not with S2 splitting. Option D) Ventricular septal defect (VSD) may present with a harsh holosystolic murmur but not with S2 splitting during expiration. Understanding auscultation findings in pediatric cardiovascular conditions is crucial for nurses caring for infants. Recognizing the significance of S2 splitting in differentiating between various cardiac defects helps in accurate diagnosis and appropriate management, highlighting the importance of pharmacology knowledge in pediatric nursing practice.