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Human Health Campus
Human Health Campus
Human Health Campus

Adolescent with effort dyspnea

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).

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