Cystic Fibrosis Overview

Cystic Fibrosis

• Cystic fibrosis (CF) is a progressive congenital disorder primarily affecting lungs and pancreas, leading to digestive and respiratory complications.
• Caused by a genetic defect impacting sodium chloride movement in cells, resulting in thick mucus production that clogs airways and fosters bacterial growth.
• Historically, most patients died in childhood, but current life expectancy has improved to about 30 years.
• Common infections in CF patients involve Pseudomonas aeruginosa and Burkholderia cepacia, with infection spread occurring through close contact.
• Universal and droplet precautions are crucial for infection control in CF patients during hospitalization.

Management of Cystic Fibrosis

• Medications: Include antibiotics (e.g., Tobramycin), bronchodilators, corticosteroids, Dornase alfa, lactulose, Montelukast, pancreatic enzyme supplements, ursodeoxycholic acid, and vitamin supplements.
• Chest physiotherapy: Involves techniques like percussion and vibration to clear mucus from lungs.
• Exercise: Promotes muscle maintenance and lung function.
• Surgery: May involve chest tube insertion or thoracostomy in severe cases; lung transplant is an option for respiratory failure.
• Diet: Recommended caloric intake is 120-150% RDA, with increased protein and moderate fat intake to support nutritional needs.

Asthma Guidelines (NIH/NHLBI)

Component 1 - Assessment and Monitoring

• Severity of asthma is assessed through patient history, physical examination, and spirometry for those age 5 and older.
• Key diagnostic indicators include cough, wheezing, varying symptoms, and airflow obstruction which is reversible.

Component 2 - Education

• Education for asthma management begins at diagnosis and should be integrated across multiple care settings.
• Includes a written asthma action plan and fostering patient involvement in decision-making.

Component 3 - Environmental Factors

• Assessment of allergens, potential irritants, and occupational exposures is crucial for asthma management.
• Recommendations include avoiding allergens and respiratory irritants and utilizing air conditioning to reduce exposure levels.

Component 4 - Pharmacologic Treatment

• Long-term asthma control medications include corticosteroids, cromolyn, omalizumab, leukotriene modifiers, and long-acting beta agonists (LABAs).
• Medications for acute exacerbations feature short-acting beta agonists (SABAs), anticholinergics, and systemic corticosteroids.

Status Asthmaticus

• A severe asthma attack unresponsive to standard treatments, leading to potential respiratory failure.
• Common symptoms include cough, wheezing, dyspnea, and increased work of breathing, with potential for respiratory distress.

Submersion Asphyxia

• Can result in significant CNS damage, pulmonary complications, and multi-organ failure.
• Treatment involves establishing ABCs, oxygen administration, fluid management, and continuous monitoring for complications.

Congenital Heart Defects

Atrial Septal Defect (ASD)

• An opening in the atrial septum can lead to left-to-right shunting of blood, potentially asymptomatic or causing heart murmur and congestive heart failure.
• Treatment options include surgical repair or catheter-based closure.

Atrioventricular Canal Defect

• Commonly associated with Down syndrome, involves multiple defects in heart structure.
• Symptoms may include failure to thrive and heart failure manifestations.

Patent Ductus Arteriosus (PDA)

• PDA leads to increased pulmonary blood flow due to failure of ductus arteriosus closure.
• Symptoms can include a machinery-like murmur and frequent respiratory infections. Treatment includes medications or surgical ligation.

Ventricular Septal Defect

• An opening between ventricles causing left-to-right shunting; smaller openings may be asymptomatic.
• Signs and treatment similar to other congenital defects, focusing on symptom management and possible surgical interventions.

Aortic Stenosis and Coarctation of the Aorta

• Aortic Stenosis: Narrowing of the aortic valve leading to increased left ventricular pressure, potentially resulting in chest pain and fainting.
• Coarctation of the Aorta: Stricture of the aorta, causing differential blood pressures in body regions and symptoms ranging from headaches to CHF signs.

Types of Congenital Heart Disease

• Acyanotic Defects: Includes ASD, VSD, PDA and results in increased blood flow.
• Cyanotic Defects: Involves conditions like Tetralogy of Fallot with decreased pulmonary blood flow.

Pulmonic Stenosis

• A stricture of the pulmonic valve may present with symptoms ranging from asymptomatic to right ventricular hypertrophy as the demand for oxygen increases.

These study notes provide a comprehensive overview of cystic fibrosis, asthma management, congenital heart defects, and related conditions, highlighting essential treatments, diagnostic criteria, and pathophysiology involved.### Pulmonic Stenosis

• Associated with various heart defects.
• Symptoms include:
  • Loud heart murmur and congestive heart murmur.
  • Mild cyanosis and cardiomegaly.
  • Angina and dyspnea.
  • Fainting episodes.
  • Increased risk of bacterial endocarditis.
• Treatment options:
  • Balloon valvuloplasty for children to separate valve cusps.
  • Surgical repair via closed transventricular valvotomy (Brock procedure) for infants.
  • Cardiopulmonary bypass pulmonary valvotomy for older children.

Tetralogy of Fallot (TOF)

• Comprises four defects:
  • Ventricular septal defect with a large opening.
  • Pulmonic stenosis causes reduced pulmonary blood flow.
  • Overriding aorta resulting in blood mixing from both ventricles.
  • Right ventricular hypertrophy is present.
• Symptoms include severe cyanosis in infants, particularly right after birth.
• Some infants may experience increasing cyanosis within the first year.
• Additional indicators:
  • Intolerance to feeding or crying leads to "tet spells."
  • Failure to thrive with inadequate growth.
  • Clubbing of fingers may develop over time.
  • Activity intolerance as the child grows.
  • Increased risk for emboli, strokes, seizures, and sudden death.
• Preferred treatment: total surgical repair by age one, replacing previous palliative approaches.

Tricuspid Atresia

• Characterized by absence of the tricuspid valve between the right atrium and ventricle.
• Blood flow through foramen ovale or atrial defect to the left atrium, then through ventricular wall defect to the right ventricle and to lungs.
• Commonly presents with pulmonic obstruction.
• Symptoms include:
  • Post-natal cyanosis.
  • Tachycardia and dyspnea.
  • Rising hypoxemia and clubbing in older children.
  • Increased risk for bacterial endocarditis, brain abscess, and stroke.
• Treatment options:
  • Prostaglandin (alprostadil) to maintain ductus arteriosus and foramen ovale if no septal defects are present.
  • Several surgical interventions: pulmonary artery banding, aortic-pulmonary shunting, Glenn procedure for deoxygenated blood flow to lungs, atrial septostomy, and Fontan corrective procedure (typically performed at 2-4 years following initial stabilizing procedures).