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THE IMPACT OF NEW SCREENING CRITERIA FOR CARDIAC FABRY DISEASE IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS
A954 JACC March 17, 2015 Volume 65, Issue 10S
Heart Failure and Cardiomyopathies The Impact of New Screening Criteria for Cardiac Fabry Disease in Hypertrophic Cardiomyopathy Patients Poster Contributions Poster Hall B1 Sunday, March 15, 2015, 9:45 a.m.-10:30 a.m. Session Title: World of Cardiomyopathies Abstract Category: 14. Heart Failure and Cardiomyopathies: Clinical Presentation Number: 1184-230 Authors: Jiwon Seo, Minji Kim, Geu-Ru Hong, In-Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha, Namsik Chung, Yonsei University College of Medicine, Seoul, South Korea Background: The prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients has been reported as approximately 1 to 3 percent. Because Fabry disease has nonspecific, multi-organ manifestations and due to its rarity, the prevalence of FD may be underestimated. We investigated the prevalence of cardiac Fabry disease in Korean hypertrophic cardiomyopathy (HCM) patients and made a new screening criteria.
Methods: We consecutively performed cardiac FD screening using α-galactosidase A enzyme activity assay and mutation analysis of the alpha-Gal A gene on patients with newly diagnosed HCM who fulfilled at least one of the newly-invented screening criteria at our institution from March 2012 to August 2014. The new criteria consist of 1) atypical HCM defined as diffuse, symmetric mid-ventricular, biventricular, or predominant left ventricular (LV) free wall hypertrophy >13mm thickness 2) arrhythmia including atrial tachycardia, atrial fibrillation, ventricular tachycardia, symptomatic premature ventricular complex, or high degree atrioventricular (AV) block 3) short PR interval defined as < 120ms on ECG, and 4) symptoms of autonomic dysfunction including unexplained syncope, orthostatic hypotension, dizziness, or chronotrophic incompetence. Results: Upon application of our screening criteria, 67 newly diagnosed HCM patients (mean age;44.1 ± 1.8, 37 males) fulfilled at least one out of the four criteria; 34 subjects had just one applicable criterion, 17 subjects fulfilled two, and 16 subjects fulfilled three out of the four criteria. From this screening, three unrelated patients (4.5%, 2 female and 1 male) were newly diagnosed with cardiac FD and all of them had three out of the four criteria fulfilled. The positive predictive value of this new screening criteria in HCM patients was 18.75% (3 out of 16 patients).
Conclusion: Fabry disease is not an extremely rare disease in the Korean HCM population. New screening criteria is useful for the detection of cardiac FD in patients with HCM. It is necessary to conduct cardiac Fabry disease screening on HCM patients who satisfy three out of the four of our criteria, as it could aid in early detection of cardiac FD.
Heart Failure and Cardiomyopathies The Impact of New Screening Criteria for Cardiac Fabry Disease in Hypertrophic Cardiomyopathy Patients Poster Contributions Poster Hall B1 Sunday, March 15, 2015, 9:45 a.m.-10:30 a.m. Session Title: World of Cardiomyopathies Abstract Category: 14. Heart Failure and Cardiomyopathies: Clinical Presentation Number: 1184-230 Authors: Jiwon Seo, Minji Kim, Geu-Ru Hong, In-Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha, Namsik Chung, Yonsei University College of Medicine, Seoul, South Korea Background: The prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients has been reported as approximately 1 to 3 percent. Because Fabry disease has nonspecific, multi-organ manifestations and due to its rarity, the prevalence of FD may be underestimated. We investigated the prevalence of cardiac Fabry disease in Korean hypertrophic cardiomyopathy (HCM) patients and made a new screening criteria.
Methods: We consecutively performed cardiac FD screening using α-galactosidase A enzyme activity assay and mutation analysis of the alpha-Gal A gene on patients with newly diagnosed HCM who fulfilled at least one of the newly-invented screening criteria at our institution from March 2012 to August 2014. The new criteria consist of 1) atypical HCM defined as diffuse, symmetric mid-ventricular, biventricular, or predominant left ventricular (LV) free wall hypertrophy >13mm thickness 2) arrhythmia including atrial tachycardia, atrial fibrillation, ventricular tachycardia, symptomatic premature ventricular complex, or high degree atrioventricular (AV) block 3) short PR interval defined as < 120ms on ECG, and 4) symptoms of autonomic dysfunction including unexplained syncope, orthostatic hypotension, dizziness, or chronotrophic incompetence. Results: Upon application of our screening criteria, 67 newly diagnosed HCM patients (mean age;44.1 ± 1.8, 37 males) fulfilled at least one out of the four criteria; 34 subjects had just one applicable criterion, 17 subjects fulfilled two, and 16 subjects fulfilled three out of the four criteria. From this screening, three unrelated patients (4.5%, 2 female and 1 male) were newly diagnosed with cardiac FD and all of them had three out of the four criteria fulfilled. The positive predictive value of this new screening criteria in HCM patients was 18.75% (3 out of 16 patients).
Conclusion: Fabry disease is not an extremely rare disease in the Korean HCM population. New screening criteria is useful for the detection of cardiac FD in patients with HCM. It is necessary to conduct cardiac Fabry disease screening on HCM patients who satisfy three out of the four of our criteria, as it could aid in early detection of cardiac FD.