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PROHLÍŽENÍ ABSTRAKTA

MORTALITY IN HYPERTROPHIC CARDIOMYOPATHY IS INDEPENDENT OF GENOTYPE
Tématický okruh: Choroby myokardu a perikardu
Typ: Ústní sdělení - lékařské , Číslo v programu: 21
Bonaventura J. 1, Rowin E. 2, Chin M. 3, Puchnerová V. 1, Gleta E. 1, Votýpka P. 4, Macek Jr. M. 5, Koethe B. 3, Veselka J. 1, Ošťádal P. 1, Maron B. 2, Maron M. 2

1 Kardiologická klinika 2.LF UK a FN Motol, Fakultní nemocnice v Motole, Praha, 2 Hypertrophic Cardiomyopathy Center, Lahey Hospital and Medical Center, Burlington, MA, United States, 3 Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, United States, 4 Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Fakultní nemocnice v Motole, Praha, 5 Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha


Background: Hypertrophic cardiomyopathy (HCM) patients with a pathogenic mutation are considered at greater risk of HCM-related adverse events (AE) than patients without the pathogenic mutation. Nevertheless, the relationships between genotype status and outcome have not been entirely resolved.
Methods:  Consecutive patients (n=1468) with HCM diagnosis underwent genetic testing focused on HCM-related genes. Patients with pathogenic or likely pathogenic (P/LP) variants were considered genotype positive (G+), and those without P/LP variants or a variant of uncertain significance (VUS) were considered genotype negative (G-). Patients were followed for 9.6 ± 8.2 years for clinical outcomes.
Results:  Of 1468 HCM patients, 1156 (79%) were G - and 312 (21%) were G+. Over the follow-up, 135 (9%) patients died, including 33 (2%) from HCM-related causes (sudden death, embolic stroke, heart failure, surgery: heart transplant or myectomy). Sudden death events (appropriate ICD shocks, aborted cardiac arrest, and sudden death) were more frequent in G+ patients (1.7%/year) than in G- patients (0.5%/year) (HR 1.94; 95% CI 1.21-3.11; p=0.01). All-cause mortality was higher in G- patients compared to G+ patients (0.8%/year vs. 0.3%/year; p< 0.01), but after age adjustment, it did not differ between the groups (0.7%/year G- vs. 0.6%/year G+; p=0.35). HCM-related mortality was similar between G- vs. G+ HCM patients (0.3%/year vs. 0.3%/year; p=0.87). In multivariable analysis, age at diagnosis was an independent predictor of all-cause and HCM-related mortality (p<0.0001 for both), HF and SD events (p= 0.03 for both), while genotype was not. Conclusions:  In this large consecutive genotyped cohort, all-cause and HCM-related mortality was unrelated to genotype status.