A 30-year-old athlete is found to have an asymmetric septal hypertrophy of 22 mm on echo during pre-participation screening. He reports occasional exertional chest pain. His father died suddenly at age 38. Genetic testing confirms a pathogenic MYBPC3 variant. He has a 48-hour Holter showing 3 non-sustained VT runs. What is his most important risk stratification tool and likely management?
- A Exercise stress test for inducible ischaemia; reassurance if negative
- B Cardiac MRI to assess fibrosis; no ICD unless EF < 35%
- C HCM Risk-SCD 5-year score (incorporating NSVT, family history, septal thickness, LVOTO, LA size, syncope); likely to indicate ICD implantation given multiple risk factors ✓
- D Septal reduction therapy (myectomy or alcohol ablation) as first priority over ICD
Correct answer: C. HCM Risk-SCD 5-year score (incorporating NSVT, family history, septal thickness, LVOTO, LA size, syncope); likely to indicate ICD implantation given multiple risk factors
Explanation
The ESC HCM Risk-SCD calculator is the recommended tool for 5-year SCD risk estimation in HCM; it incorporates maximal wall thickness, family history of SCD, NSVT on Holter, unexplained syncope, LVOT gradient, and LA diameter. This patient has multiple high-risk features (NSVT, family history of SCD, severe hypertrophy), suggesting a high calculated risk score warranting ICD implantation as primary prevention. Competitive sport is also contraindicated in this patient.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.