Adolescent with effort dyspnea

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).