At the International Conference on Cardiology and Cardiovascular Science (CVS 2026), we are honored to feature Prof. Saule Urazalina from Kazakh National Medical University named after S.D. Asfendiarov, Kazakhstan, who will deliver a virtual oral presentation on a fascinating and rare medical case — Danon Disease (Clinical Case).
This
unique session will shed light on a rare X-linked dominant genetic disorder, offering deep
insights into its diagnosis, inheritance pattern, and clinical manifestations.
🧬
Key Highlights from the Case Presentation
✅ Rare Disease Focus:
Danon disease, first described by Morris Danon in 1981, is characterized by a
triad of cardiomyopathy,
skeletal myopathy, and intellectual disability — caused by
mutations in the LAMP2 gene.
✅ Patient Profile:
·
22-year-old male with asthenic build and mild intellectual
disability.
·
Chief complaints: general weakness and palpitations.
·
Maternal history of cardiac abnormalities – mother had a pacemaker
implanted at age 34.
✅ Diagnostic Findings:
·
EKG:
High voltage, repolarization changes, and Wolff-Parkinson-White (WPW)
syndrome.
·
Holter monitoring:
160 supraventricular tachycardia episodes and 1,119 extrasystoles.
·
Echocardiogram & MRI:
Severe left ventricular hypertrophy; LV mass index – 246 g/m².
·
Lab findings:
Elevated ALT (5.8×), AST (4.8×), increased CK-MB, normal troponin.
·
Genetic testing:
Mutation c.928G>A in exon 7 of the LAMP2 gene, confirming X-linked inheritance.
·
Retinal & Muscular signs:
Retinal pigment changes and skeletal myopathy.
✅ Conclusion:
The combination of hypertrophic cardiomyopathy, skeletal and
retinal involvement, and LAMP2 protein deficiency confirms a clinical
diagnosis of Danon
Disease.
👩⚕️ About the Expert Speaker
Prof. Saule Urazalina, PhD is a
renowned cardiologist specializing in functional cardiac diagnostics such as EKG,
echocardiography, and Holter monitoring.
·
Alumna of First Moscow Medical University (I.M. Sechenov).
·
Conducted doctoral research on subclinical atherosclerosis.
·
Completed advanced training in modern echocardiography
at Tel-Aviv
Sourasky Medical Center, affiliated with Tel-Aviv
University.
·
Presently, she serves as Professor of Cardiology at the Kazakh
National Medical University.
🌍 Event
Details
Event
Name: International Conference on
Cardiology and Cardiovascular Science
📅 Dates:
March 26–28, 2026
📍 Venue:
Singapore & Online (Hybrid)
🌐 Website:
https://cardiology.miconferences.com/
📝 Abstract
Submission: Submit
Here
💳 Registration:
Register
Now
📧 Email:
cardiology@mathewsconference.com
📞 Phone:
+1 (312) 462-4448
💬 WhatsApp:
+1 (424) 377 0967
🐦 Follow Us:
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- @CardioEvent_CVS
🚀 Join the
Global Cardiology Community
This
session is a must-attend for cardiologists, geneticists, and researchers
interested in rare
heart diseases and genetic cardiomyopathies. Gain new insights, share
ideas, and network with global experts advancing cardiovascular science.
#DanonDisease #CardiologyConference
#CVS2026 #CardiacGenetics #HeartResearch #CardiovascularScience #SauleUrazalina
#KazakhMedicalUniversity #CardiologyEvent #MedicalConference2026 #LAMP2Mutation
#HypertrophicCardiomyopathy #GeneticDisorders #SingaporeConference
#VirtualMedicalEvent
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