Adult congenital heart disease

Adult congenital heart disease

Adult congenital heart disease

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Acyanotic Defects - Shunt Shenanigans

Left-to-right shunts that increase pulmonary blood flow. Initially acyanotic, but can lead to pulmonary hypertension.

DefectEpidemiologyMurmurClassic CXR/ECGTreatment
ASDOstium secundum most commonWide, fixed split S2; systolic ejection murmur at upper left sternal borderRA/RV enlargementPercutaneous device closure
VSDMost common congenital heart defect📌 'Holosystolic, Harsh-sounding' murmur at lower left sternal borderLA/LV enlargementSurgical repair for large defects
PDAAssociated with congenital rubellaContinuous, machine-like murmurNormal or LVHIndomethacin (to close); Prostaglandins (to keep open)

Eisenmenger Syndrome: A severe, late complication where the initial left-to-right shunt reverses to a right-to-left shunt due to progressive pulmonary hypertension, causing late-onset cyanosis.

Cyanotic Defects - Blue Blood Blues

  • Tetralogy of Fallot (TOF): Most common cyanotic defect. 📌 Mnemonic: PROVe
    • Pulmonary stenosis (determines severity)
    • Right ventricular hypertrophy (RVH)
    • Overriding aorta
    • Ventricular septal defect (VSD)
  • "Tet Spells": Paroxysms of cyanosis, often during crying or feeding, from ↑ right-to-left shunting.
    • Management: Knee-chest position (↑ SVR), O₂, morphine.
  • Eisenmenger Syndrome: An uncorrected L-to-R shunt (e.g., VSD, ASD) leads to severe pulmonary hypertension. The shunt reverses to R-to-L, causing late-onset cyanosis, clubbing, and polycythemia.

Exam Favorite: The classic chest X-ray finding for TOF is a "boot-shaped heart" due to RVH and an upturned cardiac apex.

Tetralogy of Fallot: Boot-shaped heart on chest X-ray

Obstructive Lesions - No-Flow Fiascos

  • Coarctation of the Aorta (CoA):
    • BP discrepancy: ↑ upper extremities, ↓ lower extremities.
    • Weak, delayed femoral pulses.
    • Associated with Turner Syndrome & bicuspid aortic valve.
    • 📌 Mnemonic: "3" sign on CXR from aortic indentation.

Chest X-ray: Coarctation of Aorta with Rib Notching

⭐ Rib notching on CXR is a classic sign, caused by collateral flow through enlarged intercostal arteries.

  • Valvular Stenosis:
    • Aortic Stenosis (AS): Systolic ejection murmur, often a bicuspid valve. Can cause angina, syncope, dyspnea (SAD).
    • Pulmonic Stenosis (PS): Systolic ejection click, RVH. Associated with Noonan Syndrome.

ACHD Management - Heartfelt Hurdles

  • Infective Endocarditis (IE) Prophylaxis: For high-risk patients (prosthetic valves, prior IE, specific unrepaired/repaired CHD) before dental/respiratory procedures. Amoxicillin 2g PO is standard.
  • Anticoagulation: Essential for mechanical valves, Fontan circulation, and managing atrial fibrillation (AF) risk.
  • Arrhythmia Risk: AF/atrial flutter are common, elevating stroke risk. Requires rate/rhythm control & anticoagulation.
  • Pregnancy Considerations: High-risk endeavor requiring a specialized cardio-obstetrics team. Eisenmenger syndrome is an absolute contraindication.

⭐ In repaired Tetralogy of Fallot, the leading cause of late mortality is sudden cardiac death from ventricular arrhythmias.

  • Bicuspid aortic valve is the most common adult congenital heart disease, leading to early aortic stenosis/regurgitation.
  • An atrial septal defect (ASD) classically presents with a wide, fixed split S2 and can cause paradoxical emboli.
  • Coarctation of the aorta is linked to Turner syndrome, upper extremity hypertension, and rib notching on chest X-ray.
  • Eisenmenger syndrome is the reversal of a left-to-right shunt from chronic pulmonary hypertension, causing late-onset cyanosis.
  • Tetralogy of Fallot is the most common cyanotic defect; look for "tet spells" relieved by squatting.

Practice Questions: Adult congenital heart disease

Test your understanding with these related questions

A 21-year-old Cambodian patient with a history of rheumatic heart disease presents to his primary care physician for a routine check-up. He reports being compliant with monthly penicillin G injections since being diagnosed with rheumatic fever at age 15. He denies any major side effects from the treatment, except for the inconvenience of organizing transportation to a physician's office every month. On exam, the patient is found to have a loud first heart sound and a mid-diastolic rumble that is best heard at the apex. Which of the following is the next best step?

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Flashcards: Adult congenital heart disease

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Secondary pulmonary hypertension due to Heart Disease may arise due to increased _____ in the pulmonary circuit (e.g. left heart failure, congenital heart disease)

TAP TO REVEAL ANSWER

Secondary pulmonary hypertension due to Heart Disease may arise due to increased _____ in the pulmonary circuit (e.g. left heart failure, congenital heart disease)

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