HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates.

Abstract
We report on a family with a history of sudden death and effort-induced polymorphic ventricular arrhythmias. The index case was a 17-year-old boy who died suddenly and at postmortem had evidence of fibrofatty replacement in the right ventricular free wall, consistent with arrhythmogenic right ventricular cardiomyopathy, as well as calcium phosphate deposits within the myocytes. A molecular genetics investigation carried out in the paraffin-embedded myocardium of the subject and in blood samples of family members disclosed a missense mutation in exon 3 (230C-->T; A77V) of the cardiac ryanodine receptor type 2 gene. The carriers showed effort-induced polymorphic ventricular tachycardia in the setting of normal resting electrocardiogram and trivial echocardiographic abnormalities, consistent with catecholaminergic polymorphic ventricular tachycardia. The observation of both arrhythmogenic right ventricular cardiomyopathy type 2 and catecholaminergic polymorphic ventricular tachycardia in the same family suggests that the two entities might correspond to different degrees of phenotypic expression of the same disease. This experience underscores the importance of a precise autopsy diagnosis in the case of sudden cardiac death, including molecular genetics, and the mission of pathologists to guide further clinical investigation of family members.
AuthorsGiulia d'Amati, Alessia Bagattin, Barbara Bauce, Alessandra Rampazzo, Camillo Autore, Cristina Basso, Kathy King, Maria Daniela Romeo, Pietro Gallo, Gaetano Thiene, Gian Antonio Danieli, Andrea Nava
JournalHuman pathology (Hum Pathol) Vol. 36 Issue 7 Pg. 761-7 (Jul 2005) ISSN: 0046-8177 [Print] United States
PMID16084945 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Ryanodine Receptor Calcium Release Channel
Topics
  • Adolescent
  • Adult
  • Calcinosis (metabolism)
  • Cardiomyopathies (metabolism, pathology)
  • Child
  • DNA Mutational Analysis
  • Death, Sudden, Cardiac (etiology, pathology)
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myocytes, Cardiac (metabolism, pathology)
  • Pedigree
  • Ryanodine Receptor Calcium Release Channel (genetics, metabolism)
  • Tachycardia, Ventricular (genetics, metabolism, pathology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: