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- Title
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
- Authors
Ahamed, Hisham; Balegadde, Aniketh Vijay; Menon, Shilpa; Menon, Ramesh; Ramachandran, Aishwarya; Mathew, Navin; Natarajan, K. U.; Nair, Indu Ramachandran; Kannan, Rajesh; Shankar, Meghna; Mathew, Oommen K.; Nguyen, Thong T.; Gupta, Ravi; Stawiski, Eric W.; Ramprasad, V. L.; Seshagiri, Somasekar; Phalke, Sameer
- Abstract
The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), characterized by ventricular pre-excitation, progressive conduction system disease and left ventricular hypertrophy. This study describes the phenotype, genotype and clinical outcomes of a South-Asian PRKAG2 cardiomyopathy cohort over a 7-year period. Clinical, electrocardiographic, echocardiographic, and cardiac MRI data from 22 individuals with PRKAG2 variants (68% men; mean age 39.5 ± 18.1 years), identified at our HCM centre were studied prospectively. At initial evaluation, all of the patients were in NYHA functional class I or II. The maximum left ventricular wall thickness was 22.9 ± 8.7 mm and left ventricular ejection fraction was 53.4 ± 6.6%. Left ventricular hypertrophy was present in 19 individuals (86%) at baseline. 17 patients had an WPW pattern (77%). After a mean follow-up period of 7 years, 2 patients had undergone accessory pathway ablation, 8 patients (36%) underwent permanent pacemaker implantation (atrio-ventricular blocks—5; sinus node disease—2), 3 patients developed atrial fibrillation, 11 patients (50%) developed progressive worsening in NYHA functional class, and 6 patients (27%) experienced sudden cardiac death or equivalent. PRKAG2 cardiomyopathy must be considered in patients with HCM and progressive conduction system disease.
- Subjects
PHENOTYPES; CARDIOMYOPATHIES; LEFT ventricular hypertrophy; CARDIAC pacemakers; ATRIAL fibrillation
- Publication
Scientific Reports, 2020, Vol 10, Issue 1, pN.PAG
- ISSN
2045-2322
- Publication type
Article
- DOI
10.1038/s41598-020-77124-9