Details

Autor(en) / Beteiligte

• Bhonsale, Aditya, MD
• te Riele, Anneline S.J.M., MD, PhD
• Sawant, Abhishek C., MD
• Groeneweg, Judith A., MD, PhD
• James, Cynthia A., PhD
• Murray, Brittney, MS
• Tichnell, Crystal, MGC
• Mast, Thomas P., MD
• van der Pols, Michelle J., MD
• Cramer, Maarten J.M., MD, PhD
• Dooijes, Dennis, PhD
• van der Heijden, Jeroen F., MD, PhD
• Tandri, Harikrishna, MD
• van Tintelen, J. Peter, MD, PhD
• Judge, Daniel P., MD
• Hauer, Richard N.W., MD, PhD
• Calkins, Hugh, MD FHRS

Titel

Cardiac Phenotype and Long Term Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Patients with Late Presentation

Ist Teil von

• Heart rhythm, 2017-06, Vol.14 (6), p.883-891

Ort / Verlag

United States

Erscheinungsjahr

2017

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• Abstract Background The clinical profile of Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia patients with late presentation (ARVC/D) is unknown. Objective To characterize the genotype, cardiac phenotype and long term outcomes of ARVC/D patients with late presentation (age≥ 50 years at diagnosis) Methods 502 patients with ARVC/D diagnosis from Johns Hopkins and Utrecht registries were studied and long term clinical outcomes ascertained. Results Late presentation was seen in 104 (21%) patients (38% PKP2 carriers ) with 3% ≥ 65 years at diagnosis. Sustained ventricular tachycardia (VT) was the major (43%) mode of presentation in patients with late presentation while cardiac syncope was infrequent (p<0.001). Those with late presentation are significantly less likely to harbor a known pathogenic mutation (53%; p=0.005), have less precordial T wave repolarization changes (p<0.001) and have lower ventricular ectopy burden (p=0.026). Over median 6 years of follow up, 68(65%) late presentation patients experienced sustained ventricular arrhythmias with similar arrhythmia free survival at 5 years of follow up (p=0.48). LV dysfunction and heart failure was seen in 24(32%) and 15(14%) patients respectively without need for cardiac transplantation. In the late presentation cohort, male sex, pathogenic mutation, RV structural disease, lack of family history and EP study inducibility were associated with increased arrhythmic risk. Conclusion One fifth of all ARVC/D patients present after 50 years of age, often with sustained VT and are less likely to have prior syncope, electrocardiographic changes, ventricular ectopy or identifiable pathogenic mutation. In ARVC/D, late presentation does not confer a benign prognosis and is associated with high arrhythmic risk.