Document Detail

An additional marker for familial hypertrophic cardiomyopathy?
MedLine Citation:
PMID:  8261235     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Family screening for hypertrophic cardiomyopathy using conventional techniques yields some equivocal cases. Although mutations in the beta-cardiac myosin heavy-chain gene (MYH7) have been demonstrated in some patients, additional diagnostic methods are desirable to clarify the equivocal cases until the full genetic spectrum is characterized. Because coronary flow reserve is reduced in patients with typical hypertrophic cardiomyopathy independent of the severity of left ventricular hypertrophy, this measurement may help to identify patients with equivocal features of the disease. METHODS: Coronary flow reserve was measured in two subjects: one with a MYH7 mutation but without typical diagnostic features of hypertrophic cardiomyopathy, and one with borderline left ventricular hypertrophy but no mutation in the MYH7 gene. Both subjects underwent screening for hypertrophic cardiomyopathy because of a family history of the disease. Positron-emission tomography was performed to measure myocardial blood flow (MBF) with oxygen-15 labeled water. MBF was measured at baseline and during coronary vasodilatation obtained by intravenous dipyridamole (0.56 mg/kg body weight infused over 4 minutes). Coronary flow reserve was expressed as the ratio MBF-dipyridamole/MBF-baseline. RESULTS: Coronary flow reserve was 1.69 and 1.12 in the two subjects. Both of these values are 2 SD below that (3.87 +/- 1.08) measured in 17 normal subjects using the same method. CONCLUSIONS: Noninvasive quantification of coronary flow reserve by positron-emission tomography may have a role in identifying patients with equivocal hypertrophic cardiomyopathy and should be further explored.
L Choudhury; S al-Mahdawi; J French; C M Oakley; P G Camici
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Coronary artery disease     Volume:  4     ISSN:  0954-6928     ISO Abbreviation:  Coron. Artery Dis.     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1994-01-25     Completed Date:  1994-01-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9011445     Medline TA:  Coron Artery Dis     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  565-7     Citation Subset:  IM    
MRC Cyclotron Unit, Hammersmith Hospital, London, England.
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MeSH Terms
Cardiomyopathy, Hypertrophic / diagnosis*,  genetics*,  physiopathology
Coronary Circulation

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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