Mark R Hazebroek1, Ingrid Krapels2, Job Verdonschot2, Arthur van den Wijngaard2, Els Vanhoutte2, Marije Hoos2, Luc Snijders2, Lieke van Montfort2, Maryvonne Witjens2, Robert Dennert2, Harry J G M Crijns2, Hans-Peter Brunner-La Rocca2, Han G Brunner2, Stephane Heymans2. 1. From the Department of Cardiology (M.R.H., J.V., M.H., L.S., L.v.M., R.D., H.J.G.M.C., H.-P.B.-L.R., S.H.), Department of Clinical Genetics (I.K., J.V., A.v.d.W., E.V., M.W., H.G.B.), and Department of Cardiovascular Sciences (S.H.), Leuven University, Belgium; Belgium and Netherlands Heart Institute, Utrecht (S.H.); and Maastricht University Medical Centre, The Netherlands (S.H.). mark.hazebroek@mumc.nl. 2. From the Department of Cardiology (M.R.H., J.V., M.H., L.S., L.v.M., R.D., H.J.G.M.C., H.-P.B.-L.R., S.H.), Department of Clinical Genetics (I.K., J.V., A.v.d.W., E.V., M.W., H.G.B.), and Department of Cardiovascular Sciences (S.H.), Leuven University, Belgium; Belgium and Netherlands Heart Institute, Utrecht (S.H.); and Maastricht University Medical Centre, The Netherlands (S.H.).
Abstract
BACKGROUND: Genetic evaluation is recommended in patients with unexplained dilated cardiomyopathy (DCM), but its diagnostic yield and prognostic relevance in unexplained isolated left ventricular dysfunction (LVdys) is unknown. METHODS AND RESULTS: A total of 127 LVdys and 262 DCM patients underwent genetic screening. Long-term outcome consisted of a combined end point of life-threatening arrhythmia, heart transplantation, and death. At baseline, LVdys patients were younger and had less frequently New York Heart Association class ≥3 when compared with DCM (55±13 versus 58±12; P=0.019 and 21% versus 36%; P=0.003, respectively). The prevalence of familial disease and pathogenic mutations was similar in LVdys and DCM (45% versus 40%; P=0.37 and 19% versus 17%; P=0.61, respectively). After a follow-up of 56 (31-82) months, outcome did not differ in LVdys compared with DCM patients (hazard ratio, 0.83; 95% confidence interval, 0.47-1.45; P=0.51). Overall, outcome was less favorable in patients with a genetic mutation or familial disease when compared with those without (hazard ratio, 2.7; 95% confidence interval, 1.07-7.7; P=0.048 and hazard ratio, 2.2; 95% confidence interval, 1.2-4.2; P=0.013, respectively). Thus, the diagnostic yield of genetic testing in LVdys and DCM is similarly high. The presence of a gene mutation or familial predisposition results in an equally worse prognosis. CONCLUSIONS: Genetic evaluation is advised in LVdys patients and should not merely be restricted to DCM.
BACKGROUND: Genetic evaluation is recommended in patients with unexplained dilated cardiomyopathy (DCM), but its diagnostic yield and prognostic relevance in unexplained isolated left ventricular dysfunction (LVdys) is unknown. METHODS AND RESULTS: A total of 127 LVdys and 262 DCMpatients underwent genetic screening. Long-term outcome consisted of a combined end point of life-threatening arrhythmia, heart transplantation, and death. At baseline, LVdys patients were younger and had less frequently New York Heart Association class ≥3 when compared with DCM (55±13 versus 58±12; P=0.019 and 21% versus 36%; P=0.003, respectively). The prevalence of familial disease and pathogenic mutations was similar in LVdys and DCM (45% versus 40%; P=0.37 and 19% versus 17%; P=0.61, respectively). After a follow-up of 56 (31-82) months, outcome did not differ in LVdys compared with DCMpatients (hazard ratio, 0.83; 95% confidence interval, 0.47-1.45; P=0.51). Overall, outcome was less favorable in patients with a genetic mutation or familial disease when compared with those without (hazard ratio, 2.7; 95% confidence interval, 1.07-7.7; P=0.048 and hazard ratio, 2.2; 95% confidence interval, 1.2-4.2; P=0.013, respectively). Thus, the diagnostic yield of genetic testing in LVdys and DCM is similarly high. The presence of a gene mutation or familial predisposition results in an equally worse prognosis. CONCLUSIONS: Genetic evaluation is advised in LVdys patients and should not merely be restricted to DCM.
Authors: Arjun Sinha; Deepak K Gupta; Clyde W Yancy; Sanjiv J Shah; Laura J Rasmussen-Torvik; Elizabeth M McNally; Philip Greenland; Donald M Lloyd-Jones; Sadiya S Khan Journal: Circ Heart Fail Date: 2021-02-04 Impact factor: 8.790
Authors: Noor Badshah; Kari A Mattison; Sohail Ahmad; Pankaj Chopra; H Richard Johnston; Shakoor Ahmad; Sher Hayat Khan; Muhammad Tahir Sarwar; David J Cutler; Micheal Taylor; Gayatri Vadlamani; Michael E Zwick; Andrew Escayg Journal: Front Neurol Date: 2022-07-14 Impact factor: 4.086