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Hypertrophic cardiomyopathy in identical twins
J M Reid1, A B Houston, E Lundmark
1Department of Cardiology, Western Infirmary, Glasgow.
Insights
Identical twins with hypertrophic cardiomyopathy showed different disease progression. One required surgery for left ventricular outflow tract obstruction, while the other remained asymptomatic.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
- Identical twins share the same genetic makeup, offering a unique model for studying disease variability.
Observation:
- Two identical twin boys were diagnosed with hypertrophic cardiomyopathy in early childhood.
- One twin developed severe symptoms and significant left ventricular outflow tract obstruction by age 12, necessitating myomectomy.
- The other twin remained asymptomatic with no observable outflow tract obstruction.
Findings:
- Despite identical genetics, significant clinicalDiscordance in hypertrophic cardiomyopathy progression was observed.
- Surgical intervention (myomectomy) in one twin at age 12 did not fully restore function, with moderate incapacitation persisting at age 19.
- The untreated twin maintained a relatively normal life, highlighting potential genetic or environmental modifiers.
Implications:
- This case underscores the complex and variable clinical manifestations of hypertrophic cardiomyopathy, even in genetically identical individuals.
- Further research into factors influencing disease severity and progression in HCM is warranted.
- Understanding these differences could lead to personalized treatment strategies for hypertrophic cardiomyopathy.
Abstract:
Hypertrophic cardiomyopathy was diagnosed in identical twin boys in early childhood. One underwent myomectomy at the age of 12 years because of progressive severe exertional dyspnoea accompanied by considerable obstruction of the left ventricular outflow tract shown on both echocardiography and cardiac catheterisation. Seven years later, at the age of 19, he remains incapacitated to a moderate degree. By contrast, the other twin has led a relatively normal life to date and no left ventricular outflow obstruction has been shown.