A 44-year-old male patient with known Becker muscular dystrophy and concomitant non-ischemic dilated cardiomyopathy presented to our department because of worsening heart failure and presyncope. Upon admission, the patient was in New York Heart Association functional class III despite optimal pharmacological treatment; his ECG showed sinus rhythm with left bundle branch block and a wide QRS complex. Non-sustained ventricular tachycardia was recorded during 24-hour Holter monitoring. A complete three-dimensional echocardiographic study was performed and documented the dilatation and concomitant hypertrabeculation of the left ventricle (LV), with severely depressed systolic LV performance (ejection fraction 20%), as well as mechanical dyssynchrony--mainly in terms of intraventricular delay. A biventricular cardioverter-defibrillator (CRT-D) was implanted in this patient, with the LV lead in a lateral vein and the right ventricular defibrillating lead in the apical part of the interventricular septum. Echocardiography-guided device programming was performed in order to achieve the optimal atrio-, inter-, and intraventricular resynchronization. The patient's clinical condition was substantially improved within one month after the implantation.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDFAI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
Genes (Basel)
December 2024
Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
Background/objectives: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders.
Methods: By analyzing the model's performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments.
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.
View Article and Find Full Text PDFA new method to evaluate staircase phenomenon in skeletal muscle using piezoelectric sensor.
Clin Neurophysiol Pract
December 2024
Department of Neurology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
Objective: The staircase phenomenon, which refers to the increases in the force of contraction with repetitive stimulation of the muscle, has been studied for many years, but the method is difficult and not widely used. Our objective was to evaluate the staircase phenomenon in skeletal muscle using a piezoelectric sensor.
Methods: Thirty-five subjects without neuromuscular diseases (normal controls), 11 patients with Becker muscular dystrophy (BMD), and 19 patients with myotonic dystrophy type 1 (MyD) were studied.
Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy.
PLoS One
January 2025
Little Steps Association for Children with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy, Kefar Saba, Israel.
For individuals with Duchenne or Becker muscular dystrophy (DMD and BMD, respectively), transitioning to adulthood presents significant challenges. Although considerable attention has been given to facilitating medical transitions due to the complexity of these conditions, less focus has been placed on other aspects of the transition, such as achieving independence. This study assessed the transition needs of people with DMD or BMD, exploring various domains including health, education, employment, living arrangements, transportation, daily activities, and independent personal life.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!