Abstract |
In this case report, we present familiar hypertrophic cardiomyopathy with age-dependent heterogeneity of the disease phenotype among the members of one family who carry the same mutation of the myosin-binding protein C gene. Phenotypic heterogeneity is common in patients with familial forms of hypertrophic cardiomyopathy, both in clinical expression and outcome. Compared with other noninvasive cardiac imaging modalities, cardiovascular magnetic resonance provides an opportunity to more accurately characterize the varying phenotypic presentations of hypertrophic cardiomyopathy.
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Authors | Sigita Glaveckaitė, Alfredas Rudys, Violeta Mikštienė, Nomeda Valevičienė, Darius Palionis, Aleksandras Laucevičius |
Journal | Medicina (Kaunas, Lithuania)
(Medicina (Kaunas))
Vol. 49
Issue 9
Pg. 422-5
( 2013)
ISSN: 1648-9144 [Electronic] Switzerland |
PMID | 24589579
(Publication Type: Case Reports, Evaluation Study, Journal Article)
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Chemical References |
- Carrier Proteins
- myosin-binding protein C
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Topics |
- Age Factors
- Cardiomyopathy, Hypertrophic, Familial
(diagnosis, genetics)
- Carrier Proteins
(genetics)
- Humans
- Magnetic Resonance Imaging
(methods)
- Male
- Middle Aged
- Pedigree
- Phenotype
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