Info
🌱 來自: Huppert’s Notes
Congenital Heart disease with late Cyanosis (L → R shunt)🚧 施工中
Congenital Heart disease with late Cyanosis (L → R shunt)
Atrial septal defect (ASD)
• Etiolgy: Defect in the middle (ostum secundum, most common) or lower (ostum primum, which occurs in Down syndrome) part of atrial septum
• Clinical presentation: Small defects are often asymptomatic. Large ASDs are typically detected/closed in childhood; if not patients may become symptomatic by middle age, causing exercise intolerance, dyspnea, fatigue
• Complication: Pulmonary hypertension, Eisenmenger syndrome, right heart failure, Afib, stroke with paradoxical emboli
• Heart sound: Loud S1, wide fixed split S2. More pulmonic flow = mild systolic ejection murmur, diastolic rumble across the tricuspid valve
• Treatment: Most do not require closure. When pulmonary to systemic flow is high (Qp/Qs >1.5) or RV overload, consider closure. Closure contraindicated after right to left shunt develops.
Patent foramen ovale (PFO)
• Etiology: The foramen ovale is an atrial opening that usually closes at birth, PFO = persistent opening (25% of the population)
• Clinical presentation: Common and usually benign. May cause cryptogenic strokes and select patients may benefit from closure (CLOSE, RESPECT, REDUCE trials)
Ventricular septal defect (VSD)
• Etiology: Defect in the muscular or membranous portion of the ventricular septum
• Associations: Fetal alcohol syndrome, Down syndrome
• Clinical presentation: Most large VSDs are detected and closed in childhood; if not patients may become symptomatic with eventual pulmonary hypertension and right to left shunting
• Heart sound: Harsh blowing holosystolic murmur with thrill, loudest at the left third intercostal space with handgrip (smaller defect = louder murmur)
• Treatment: Consider closure if large, but contraindicated after right to left shunt develops
Patent ductus arteriosus (PDA)
• Etiology: Persistent communication between the aorta and pulmonary artery. Associated with congenital rubella, prematurity.
• Clinical presentation: Depends on the size; small PDAs are usually asymptomatic; moderate PDAs cause Eisenmenger syndrome if not diagnosed; large PDAs cause infantile heart failure.
• Heart sound: Machine-like murmur, best heard at the left second intercostal space; wide pulse pressure and bounding peripheral pulses.
• Treatment: Consider closure; options include pharmacologic therapy (e.g., indomethacin; used exclusively in premature infants), surgical ligation, percutaneous catheter occlusion.
Coarctation of the aorta (COA)
• Etiology:
- Infantile: Lower extremity cyanosis with weak pulses; associated with Turner’s syndrome
- Adult: Can also be acquired due to inflammation of the aorta (e.g., Takayasu’s)
• Clinical presentation: Upper extremity hypertension, low/unobtainable lower extremity blood pressure, and diminished/delayed femoral pulse; CXR can reveal “notched ribs” after age 4–12 yr due to erosion by collateral arteries; in adulthood, if previously undetected, likely to present with hypertension
• Treatment: Indicated for CoA gradient >20 mmHg, radiologic evidence of significant collaterals, hypertension due to CoA, or HF due to CoA; options include balloon angioplasty, stenting, or surgery