Key result
A patient with a cardiac MYBPC gene mutation exhibited progressive hypertrophy until age 54, followed by gradual left ventricular dilation, atrial fibrillation, and congestive heart failure over 17 years.
Case Report (n=1)
No
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This 17-year follow-up demonstrates that the morphological characteristics of hypertrophic cardiomyopathy caused by an MYBPC mutation can change significantly over a patient's lifetime, progressing from typical hypertrophy to a dilated phase with heart failure.
A 60-year-old Japanese man with obstructive hypertrophic cardiomyopathy was found to have a mutation in the cardiac myosin binding protein C gene: a single base deletion of a thymidine residue at nucleotide 11645 (codon 593) in exon 18. He was diagnosed at the age of 43 and has been followed for 17 years. During this follow-up period, echocardiograms and mechanocardiograms revealed progressive hypertrophy until the age of 54, then gradual dilation of the left ventricle associated with a decrease in the obstruction. Paroxysmal atrial fibrillation occurred at the age of 52 and progressed to chronic atrial fibrillation at the age of 53. He had congestive heart failure at the age of 58.
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Ogimoto et al. (2004) conducted a case report in Obstructive hypertrophic cardiomyopathy (n=1). Cardiac MYBPC gene mutation was evaluated on Disease progression. A patient with a cardiac MYBPC gene mutation exhibited progressive hypertrophy until age 54, followed by gradual left ventricular dilation, atrial fibrillation, and congestive heart failure over 17 years.
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