Cardiovascular Presentations
Overview
Presentations where the chief concern is the heart muscle, the conduction system, the great vessels, or sudden cardiac events. The differential consistently splits along structural vs electrical vs vascular vs metabolic lines; reasoning leans on that split before any gene is named. Family history is unusually load-bearing here because so many inherited cardiac conditions have asymptomatic affected relatives at risk for the first event, so a careful three-generation pedigree (including any unexplained drownings, single-car accidents, or "sudden infant death" in the family) is part of the work-up, not an afterthought. Many of these entities also overlap with neuromuscular and metabolic disease (Pompe, Duchenne, Friedreich, mitochondrial), so a "primary cardiac" diagnosis often needs a second look at extracardiac systems.