Mariela Karina Huertas, Juan XXIII Clinic, Argentina

Mariela Karina Huertas

Juan XXIII Clinic, Argentina

Presentation Title:

Dilated Cardiomyopathy and Duchenne Muscular Dystrophy - Case Report

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that impairs the expression of a protein vital for muscle fiber stability, leading to myocyte inflammation and death. Cardiac involvement, which may initially be asymptomatic due to self-limited physical activity, is a significant cause of morbidity and mortality. It typically progresses from left ventricular dysfunction to dilated cardiomyopathy, heart failure, arrhythmias, and sudden cardiac death. This case discusses a 24-year-old male with a history of muscle weakness who presented with acute abdomen symptoms and was diagnosed with acute cholecystitis. An 8.8 mm gallstone was detected, and he underwent laparoscopic cholecystectomy with a favorable outcome. Subsequently, he reported to the emergency department twice due to lower extremity edema and was admitted with acute heart failure. Echocardiography revealed severe ventricular dysfunction (LVEF 29%) and dilated cardiomyopathy. The patient disclosed a history of DMD diagnosed by genetic testing and biopsy at age 6, with inconsistent follow-up and no medication. In the CCU, he received fluid balance management, levosimendan, and comprehensive heart failure treatment. MRI confirmed dilated cardiomyopathy with myocardial delayed enhancement. Holter monitoring showed infrequent atrial contractions. He was discharged after six days with an outpatient referral for heart transplant evaluation. A month later, the patient was admitted to a high-complexity center due to worsening clinical conditions and was placed on the emergency transplant list. After five months and requiring a ventricular assist device, a successful heart transplant was performed, and he was discharged 23 days later. He now receives post-transplant care, kinesiotherapy, and genetic counseling with his family. DMD is a genetic, progressive disease affecting skeletal muscles, requiring early diagnosis, genetic counseling, and multidisciplinary care. While no cure exists, personalized treatments are sought. Heart failure manifests in later stages, necessitating strict monitoring and follow-up. In the CCU, he received fluid balance management, levosimendan, and comprehensive heart failure treatment. MRI confirmed dilated cardiomyopathy in the field of cardiology and her international projection.

Biography

Mariela Huertas is a medical doctor who graduated from the National University of Comahue (UNCo), Argentina. During her studies, she demonstrated strong academic commitment by serving as an ad honorem teaching assistant in Human Physiology at the University of Medical Sciences. Her passion for research and medical practice is evident in her publication “Dilated Cardiomyopathy and Duchenne Muscular Dystrophy” in the prestigious Argentine Journal of Cardiology (2024), a significant contribution to understanding this complex condition. Currently, she is in her fourth year of residency in Cardiology, a stage where she has shown herself to be a proactive professional committed to providing high-quality medical care. Her dedication and talent were recently recognized when she was awarded the title of "Young Cardiologist 2024" by the Latin American Society of Interventional Cardiology, an honor that highlights her growing impact in the field of cardiology and her international projection. With a clear focus on excellence, Mariela remains committed to professional growth and contributing to the medical-scientific field. She continuously seeks opportunities for learning and collaboration that enable her to enrich clinical practice and contribute to improving patients' quality of life.