HCM ?
A young patient with no prior medical history presents with left-sided heart failure due to new-onset atrial fibrillation. The clinical course is marked by sinus node dysfunction, syncopal atrioventricular block, and non-sustained ventricular tachycardia requiring implantation of a dual-chamber defibrillator, as well as ischemic testicular necrosis requiring orchidectomy. Several differential diagnoses are considered. Further work-up reveals a previously asymptomatic hypertrophic cardiomyopathy. Genetic testing is requested. What is the diagnosis?
-> PRKAG2 mutation
Which of the following is recognized by the ESC 2022 guideline as a risk factor for SCD in HCM?
A. Short PR interval
B. Abnormal blood pressure response to exercise
C. Right bundle branch block
D. Poor exercise tolarance
E. Max LV wall thickness ≥15 mm
A 44‑year‑old woman with HCM has a maximal left ventricular wall thickness of 22 mm, non‑sustained ventricular tachycardia on Holter and mild left ventricular systolic dysfunction. She has no family history of sudden death. Which factor among the following is explicitly cited by ESC guidelines as favouring ICD implantation?
A. Female sex
B. Non‑sustained ventricular tachycardia
C. Absence of late gadolinium enhancement on MRI
D. Age <30 years only
E. Mild mitral regurgitation
> Non‑sustained ventricular tachycardia
The ESC guidelines list several factors favouring ICD implantation in HCM; these include age, CTG expansion (in Danon disease), a family history of sudden death, ECG conduction abnormalities (e.g., PR prolongation, LBBB), atrial arrhythmias, non‑sustained ventricular tachycardia, left ventricular dysfunction and structural abnormalities on cardiac magnetic resonance imaging.
Which risk‑assessment tool do the ESC guidelines recommend for estimating 5‑year sudden cardiac death risk in adults with HCM?
A. CHA₂DS₂‑VASc score
B. HCM Risk‑SCD calculator
C. FRAX fracture risk score
D. CPVT arrhythmia score
E. QT dispersion index
HCM Risk‑SCD calculator
> The ESC guidelines refer to the HCM Risk‑SCD tool the 5‑year risk of sudden cardiac death and aid shared decision‑making regarding ICD implantation in adults. Other scores like CHA₂DS₂‑VASc are used for atrial fibrillation stroke risk and are not appropriate for SCD risk stratification in HCM.