AKT · Cardiovascular/Circulation & blood pressurelow yield

Congenital heart disease (adult presentation)

Structural cardiac defects — acyanotic (L→R shunt/obstruction) vs cyanotic (R→L shunt)

Overview

Structural heart defects that may first declare themselves, or need ongoing care, in adulthood. The framework is acyanotic (left-to-right shunts — ASD/VSD/PDA — and obstructive lesions — coarctation/aortic/pulmonary stenosis) versus cyanotic (right-to-left shunts — tetralogy of Fallot, transposition). Full paediatric detail (presentation, duct-dependent lesions, prostaglandin) lives on the child_health page; this card covers the adult-presentation and shunt-physiology essentials.

Recognise

ASD: often asymptomatic until adulthood — fixed split S2, atrial arrhythmias, paradoxical embolism; VSD: pansystolic murmur at the left sternal edge
Coarctation (adult): hypertension, radio-femoral delay, rib notching on CXR; bicuspid aortic valve association
Eisenmenger syndrome: long-standing L→R shunt reverses to R→L with pulmonary hypertension → cyanosis, clubbing, paradoxical emboli

Red flags

Eisenmenger physiology → avoid pregnancy and systemic vasodilators; refer to specialist adult congenital heart disease (ACHD) services
Coarctation presenting with severe hypertension/heart failure → urgent assessment

Differentials & how to tell them apart

Acquired valve diseasedegenerative/rheumatic in older patients without congenital anatomy

Innocent flow murmursoft, systolic, no structural abnormality on echo

Pulmonary hypertension of other causeno intracardiac shunt — distinguish from Eisenmenger

Investigations

Echo (defect, shunt direction, chamber size, pulmonary pressures); ECG; CXR (rib notching in coarctation, '3 sign'); cardiac MRI/CT for anatomy; oxygen saturations (cyanotic lesions); refer to specialist ACHD services.

Management

Specialist ACHD assessment; defect closure where indicated; manage complications (see child_health for full detail)

1Define the anatomy and shunt physiology on echo/imaging; classify acyanotic vs cyanotic. Refer to specialist adult congenital heart disease services.Gate: Eisenmenger syndrome (reversed shunt with pulmonary hypertension and cyanosis) → avoid pregnancy and systemic vasodilators; this is specialist-only management.
2Close significant defects (surgical/transcatheter) or repair coarctation where indicated; manage arrhythmia/heart failure and arrange lifelong follow-up. Full paediatric and duct-dependent/prostaglandin detail is on the child_health page.

Defect closure (surgical or transcatheter) — e.g. significant ASD/VSD/PDA or coarctation repair/stenting — timing and method are specialist decisions

Endocarditis awareness/prophylaxis for high-risk lesions — per NICE CG64 (prophylaxis only for the highest-risk patients undergoing specific procedures)

Manage Eisenmenger/pulmonary hypertension in specialist centres — avoid pregnancy and dehydration; pulmonary vasodilators by specialists only

Treat complications (arrhythmia, heart failure) — and arrange lifelong ACHD follow-up

Key points

Acyanotic = left-to-right shunts (ASD — fixed split S2; VSD — pansystolic murmur; PDA) and obstruction (coarctation — radio-femoral delay, rib notching). Cyanotic = right-to-left (tetralogy, transposition). A reversed shunt with pulmonary hypertension = Eisenmenger → no pregnancy, no vasodilators. Full detail cross-refs child_health.

Monitor & prognosis

Lifelong ACHD follow-up: echo, arrhythmia, pulmonary pressures, functional status.

Many repaired lesions allow near-normal life; Eisenmenger carries a poor prognosis.

Source: Cross-ref child_health (CHD); ESC adult congenital heart disease