Header

UZH-Logo

Maintenance Infos

Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family


Keller, D I; Schwitter, J; Valsangiacomo Büchel, Emanuela R; Landolt, P; Attenhofer Jost, C H (2009). Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family. International Journal of Cardiology, 134(3):e87-e93.

Abstract

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 persons and shows high variability in severity of disease, in genetic heterogeneity and phenotypic patterns. Many affected individuals remain undetected throughout their lives. In this case report a family with proven beta-myosin heavy chain mutation (MYH7) with 3 affected family members with huge phenotypic variability is described. The index patient (male, age 21 years) has severe phenotypic expression with a pathological ECG and maximal septal wall thickness of 29 mm, there is no significant obstruction in the left ventricular outflow tract. The sister (age 16 years), mutation carrier, has no detectable hypertrophy and no ECG changes. The mother (age 44 years), also carrying the mutation, has a normal ECG and shows only mild septal hypertrophy of 12 mm and systolic anterior motion of her mitral valve chordae with no gradient. The maternal grandmother died suddenly at age 65 years of presumed coronary artery disease, and the maternal great-grandmother had a sudden cardiac death at age 50 years of unknown etiology. To conclude, this family shows impressively the wide spectrum of phenotypic presentation and outcome in one family.

Abstract

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 persons and shows high variability in severity of disease, in genetic heterogeneity and phenotypic patterns. Many affected individuals remain undetected throughout their lives. In this case report a family with proven beta-myosin heavy chain mutation (MYH7) with 3 affected family members with huge phenotypic variability is described. The index patient (male, age 21 years) has severe phenotypic expression with a pathological ECG and maximal septal wall thickness of 29 mm, there is no significant obstruction in the left ventricular outflow tract. The sister (age 16 years), mutation carrier, has no detectable hypertrophy and no ECG changes. The mother (age 44 years), also carrying the mutation, has a normal ECG and shows only mild septal hypertrophy of 12 mm and systolic anterior motion of her mitral valve chordae with no gradient. The maternal grandmother died suddenly at age 65 years of presumed coronary artery disease, and the maternal great-grandmother had a sudden cardiac death at age 50 years of unknown etiology. To conclude, this family shows impressively the wide spectrum of phenotypic presentation and outcome in one family.

Statistics

Altmetrics

Downloads

1 download since deposited on 03 Feb 2010
0 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2009
Deposited On:03 Feb 2010 15:50
Last Modified:05 Apr 2016 13:49
Publisher:Elsevier
ISSN:0167-5273
Publisher DOI:https://doi.org/10.1016/j.ijcard.2007.12.097
PubMed ID:18374998

Download

Preview Icon on Download
Filetype: PDF - Registered users only
Size: 693kB
View at publisher