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A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
Rationale: Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease and a common cause of sudden cardiac death, heart failure, atrial fibrillation and stroke. In families affected by HCM, genotyping is useful for identifying susceptible relatives. In the present study, we investigated the disease-causing mutations in a three-generation Chinese family with HCM using whole exome sequencing (WES). Patient concerns: The proband, a 50-year-old man, was diagnosed with HCM at the age of 41 years. He presented with an asymmetric hypertrophic interventricular septum and a maximum interventricular septum thickness o...
Source: Medicine - August 21, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Interventional treatment for acute cerebral infarction with large vessel occlusion combined with aortic arch interruption: A case report
Rationale: Aortic arch interruption is a type of congenital vascular malformation that is often observed in childhood. Most children die of congestive heart failure due to rapid deterioration. Children can only survive to adulthood if they have extremely rich collateral circulation. Cases of acute cerebral infarction with large vessel occlusion receiving interventional treatment in adult patients with interrupted aortic arch have not been reported. Patient concerns: A 55-year-old man with a history of atrial fibrillation and smoking but without a family history of stroke was admitted to our hospital with a 5-hou...
Source: Medicine - November 19, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Distinct atrial remodeling in patients with subclinical atrial fibrillation: Lessons from computed tomographic images
ConclusionAs compared to clinical AF, patients with SCAF show a more favorable LA remodeling process. Among the patients with device-detected AHREs, worse LA remodeling and a reduced LAA/AA HU ratio were associated with the occurrence of AHREs ≥6 min. These findings may provide an incremental value for understanding SCAF.
Source: Pharmacology Research and Perspectives - February 23, 2022 Category: Drugs & Pharmacology Authors: Sung ‐Hao Huang, Chao‐Feng Liao, Zu‐Yin Chen, Tze‐Fan Chao, Shih‐Ann Chen, Hsuan‐Ming Tsao Tags: ORIGINAL ARTICLE Source Type: research

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