Adolescent with effort dyspnea
Teaching Case Visit Teaching Case
Case presentation:
- Female.
- 16 y.o.
- Family history of sudden death (father).
- Pactices sports regularly.
- Presents with effort dyspnea.
- At physical examination, systolic murmur 3/6.
- Otherwise unremarkable.
Teaching points:
- HCM is the most frequent hereditary cardiovascular disease (0.2% global incidence).
- Autosomic dominance caused by mutations in at least 13 genes which codify the cardiac sarcomer proteins, being the most frequent.
- LVH associated with HCM may cause false positive results in ECG (ST depression), symptoms (chest pain) and MPS results (TID, drop in post-stress LVEF).