Fatima Samad1, Renuka Jain1, M Fuad Jan1, Nasir Z Sulemanjee1, Puneet Menaria1, Lindsey Kalvin2, Michelle Bush1, Arshad Jahangir3, Bijoy K Khandheria1, A Jamil Tajik4. 1. Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, University of Wisconsin School of Medicine and Public Health, 2801 W. Kinnickinnic River Parkway, Milwaukee, WI 53215, USA. 2. Department of Internal Medicine, Aurora St. Luke's Medical Center, Milwaukee, WI. 3. Center for Integrative Research on Cardiovascular Aging (CIRCA), Aurora Research Institute, 2801 W. Kinnickinnic River Parkway, Milwaukee, WI 53215, USA. 4. Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, University of Wisconsin School of Medicine and Public Health, 2801 W. Kinnickinnic River Parkway, Milwaukee, WI 53215, USA. Electronic address: publishing14@aurora.org.
Abstract
INTRODUCTION: Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS: We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. RESULTS: All patients presented phenotypically with hypertrophic cardiomyopathy and later developed systolic dysfunction. The mean age at diagnosis was 19years (11-31years). All patients had diastolic dysfunction (mean e' of 5cm/s [3.5-6cm/s], mean E/e' of 17 [15-21]). Three patients required cardiac transplantation (ages 15, 27, and 42). Of the two deaths in this group, both were in women. CONCLUSION: We highlight the aggressive cardiac phenotype of Danon disease in our clinical experience with rapid progression to end-stage cardiomyopathy; this progression occurred in both men and women. A timely diagnosis and an early referral for cardiac transplantation is crucial for improved outcomes.
INTRODUCTION:Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS: We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. RESULTS: All patients presented phenotypically with hypertrophic cardiomyopathy and later developed systolic dysfunction. The mean age at diagnosis was 19years (11-31years). All patients had diastolic dysfunction (mean e' of 5cm/s [3.5-6cm/s], mean E/e' of 17 [15-21]). Three patients required cardiac transplantation (ages 15, 27, and 42). Of the two deaths in this group, both were in women. CONCLUSION: We highlight the aggressive cardiac phenotype of Danon disease in our clinical experience with rapid progression to end-stage cardiomyopathy; this progression occurred in both men and women. A timely diagnosis and an early referral for cardiac transplantation is crucial for improved outcomes.
Authors: Steven P Gygi; Christine E Seidman; J G Seidman; Radhika Agarwal; Joao A Paulo; Christopher N Toepfer; Jourdan K Ewoldt; Subramanian Sundaram; Anant Chopra; Qi Zhang; Joshua Gorham; Steven R DePalma; Christopher S Chen Journal: Circ Res Date: 2021-08-18 Impact factor: 23.213
Authors: Bart A Mulder; Yvonne M Hoedemaekers; Maarten P van den Berg; Rosa L E van Loon; Anna M Wind; Jan D H Jongbloed; Ans C P Wiesfeld Journal: Eur Heart J Case Rep Date: 2019-07-29