TY - JOUR
T1 - Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the β-myosin heavy chain gene and cardiac arrest in childhood
T2 - A case report and family study
AU - Döhlemann, C.
AU - Hebe, J.
AU - Meitinger, T.
AU - Vosberg, H. P.
PY - 2000
Y1 - 2000
N2 - Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotype and genotype. To demonstrate that the mutation Arg719Trp in the cardiac β-myosin heavy chain (βMHC) gene is a high risk factor for sudden death and can be associated with an usual apical non-obstructive HCM, we report the case of a 6 1/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the βMHC gene (Arg719Trp) on the paternal βMHC allele and a second maternally transmitted mutation (Met349Thr), as was shown previously (Jeschke et al. 1998 (11)). Here we report the clinical phenotype of the proband and of his relatives in detail. The proband had a marked apical and midventricular hypertrophy of the left and right ventricle without obstruction. There was an abnormal relaxation of both ventricles. Holter monitoring detected no arrhythmia. Ventricular fibrillation was inducible only by aggressive programmed stimulation. The boy died 3 1/2 years later after another cardiac arrest due to arrhythmia. Five carders of the Met349Thr mutation in the family were asymptomatic and had no echocardiographic changes in the heart, suggesting a neutral inherited polymorphism or a recessive mutation. It is concluded that there is an association of the mutation Arg719Trp in the β-myosin heavy chain with sudden cardiac death in a young child. Disease history in conjunction with the genetic analysis suggests that verter would have been a beneficial and probably life saving measure.
AB - Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotype and genotype. To demonstrate that the mutation Arg719Trp in the cardiac β-myosin heavy chain (βMHC) gene is a high risk factor for sudden death and can be associated with an usual apical non-obstructive HCM, we report the case of a 6 1/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the βMHC gene (Arg719Trp) on the paternal βMHC allele and a second maternally transmitted mutation (Met349Thr), as was shown previously (Jeschke et al. 1998 (11)). Here we report the clinical phenotype of the proband and of his relatives in detail. The proband had a marked apical and midventricular hypertrophy of the left and right ventricle without obstruction. There was an abnormal relaxation of both ventricles. Holter monitoring detected no arrhythmia. Ventricular fibrillation was inducible only by aggressive programmed stimulation. The boy died 3 1/2 years later after another cardiac arrest due to arrhythmia. Five carders of the Met349Thr mutation in the family were asymptomatic and had no echocardiographic changes in the heart, suggesting a neutral inherited polymorphism or a recessive mutation. It is concluded that there is an association of the mutation Arg719Trp in the β-myosin heavy chain with sudden cardiac death in a young child. Disease history in conjunction with the genetic analysis suggests that verter would have been a beneficial and probably life saving measure.
KW - Apical hypertrophic cardiomyopathy
KW - Codon 719
KW - Sudden death
KW - β-myosin heavy chain de novo mutation
UR - http://www.scopus.com/inward/record.url?scp=0033862711&partnerID=8YFLogxK
U2 - 10.1007/s003920070211
DO - 10.1007/s003920070211
M3 - Article
C2 - 10957787
AN - SCOPUS:0033862711
SN - 0300-5860
VL - 89
SP - 612
EP - 619
JO - Zeitschrift fur Kardiologie
JF - Zeitschrift fur Kardiologie
IS - 7
ER -