Mild form of Danon disease: two case reports.

Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy. This report aims to describe two unrelated male patients showing mild manifestations of the disease. A 39-year-old man presented with a 10-year history of elevated serum creatine kinase levels with slowly progressive muscle weakness. Muscle pathology showed autophagic vacuoles with sarcolemmal features. Genetic testing revealed a hemizygous mutation in exon 9b, an alternatively spliced exon, of lysosome-associated membrane protein-2 (LAMP-2) (c.1097_1098delAA). Cardiac testing showed asymptomatic mild left ventricular hypertrophy. He had borderline intelligence. Early stage of retinopathy was detected. Another male patient, currently 53-year-old, had asymptomatic supraventricular extrasystole and muscle weakness but no intellectual disability, harboring the same mutation. He also had retinopathy. The present patients commonly carry a mutation in exon 9b of LAMP-2, suggesting that mutations in the exon are associated with a mild form of Danon disease.

Recurrent ischemic stroke in patients with atrial fibrillation ablation and prior stroke: A study based on etiological classification.

BACKGROUND: Different subtypes of ischemic stroke may have different risk factors, clinical features, and prognoses. This study investigated the incidence and mode of stroke recurrence in patients with a history of stroke who underwent atrial fibrillation (AF) ablation. METHODS: Of 825 patients who underwent AF ablation from 2006 to 2016, 77 patients (9.3%, median age 69 years) with a prior ischemic stroke were identified. Patients were classified as those with prior cardioembolic (CE) stroke (n = 55) and those with prior non-CE stroke (n = 22). The incidence and pattern of stroke recurrence were investigated. RESULTS: The incidence of asymptomatic AF (54.5% vs 22.7%; P = .011) and left atrial volume (135.8 mL vs 109.3 mL; P = .024) was greater in the CE group than in the non-CE group. Anticoagulation treatment was discontinued at an average of 28.1 months following the initial ablation in 34 (44.2%) patients. None of the patients developed CE stroke during a median 4.1-year follow-up. In the non-CE group, 2 patients experienced recurrent non-CE stroke (lacunar infarction in 1 and atherosclerotic stroke in 1); however, AF was not observed at the onset of recurrent ischemic stroke. CONCLUSIONS: In patients with a history of stroke who underwent catheter ablation for AF, the incidence of recurrent stroke was 0.54/100 patient-years. The previous stroke in these patients may not have been due to AF in some cases; therefore, a large-scale prospective study is warranted to identify the appro priate antithrombotic therapy for the prevention of potentially recurrent stroke.