Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.
BACKGROUND
The etiology of Familial Hypertrophic Cardiomyopathy (HCM) is attributed to the mutation of genes that encode sarcomeric proteins in the heart. Until now no gene mutations had been identified in Portuguese families with HCM.


OBJECTIVE
The main objective of this study is to describe a Portuguese family with HCM carrying an Arg403Gln mutation in the beta myosin heavy chain gene.


METHODS
With the help of several Molecular Biology tools, 40 families with HCM were studied. In all these families, one member was identified as carrying an Arg403Gln mutation in the beta myosin heavy chain gene. All family members were submitted to a physical exam, EKG and echocardiography. Those carrying a gene mutation were also submitted to Holter monitoring and to magnetic ressonance imaging.


RESULTS
Molecular biology techniques are extremely important for the diagnosis of HCM, particularly in healthy carriers.


CONCLUSIONS
The use of molecular diagnostic tools in HCM is very useful because it allows us to identify the healthy carriers and establish earlier clinical and prevention programs for these individuals.
Gonçalves
L M
LM
Serviço de Cardiologia dos Hospitais da Universidade de Coimbra. lgoncalv@ci.uc.pt
Vieira
M
M
Faro
C
C
Ventura
M
M
Pires
E
E
Providência
L A
LA
D019943:Amino Acid Substitution; D001120:Arginine; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005973:Glutamine; D006801:Humans; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal
D005973:Glutamine; D001120:Arginine; D018995:Myosin Heavy Chains