Document Detail

Familial occurrence of isolated non-compaction cardiomyopathy.
MedLine Citation:
PMID:  16713736     Owner:  NLM     Status:  MEDLINE    
BACKGROUND AND AIMS: Isolated left ventricular non-compaction cardiomyopathy (LVNC) may have an autosomal dominant or X-linked recessive inheritance. We focus on the familial occurrence of LVNC after misdiagnosing this disorder in symptomatic patients in two families. After identification of the index patient we studied the families more intensively in order to unmask affected family members.
METHODS AND RESULTS: LVNC was defined as an end-systolic non-compacted subendocardial layer of the left ventricular wall of at least twice the thickness of the subepicardial compacted layer (2D echocardiogram and MRI). This was studied in 13 patients in 2 families (A and B). LVNC was found in 3 out of 11 patients in family A. The grandmother was asymptomatic. Her daughter suffered from recurrent syncope and heart failure. Her daughter received a cardiac transplant because of progressive heart failure at the age of 14years. In family B, LVNC was found in 2 patients, a father and his son and presumed in a brother and a sister of the father who died suddenly at the age of 17 and 21years, respectively.
CONCLUSIONS: In all symptomatic patients, proven LVNC was previously misdiagnosed as hypertrophic or dilated cardiomyopathy. Misdiagnosis may lead to insufficient treatment and will misdirect targeted molecular genetic analysis. LVNC was identified in seven patients in two families. Family screening may unmask affected family members for primary prevention including anti-coagulation and ICD-therapy.
Anouk Lorsheyd; Maarten-Jan M Cramer; Birgitta K Velthuis; Evert-Jan P Vonken; Jasper van der Smagt; Peter van Tintelen; Richard N W Hauer
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Publication Detail:
Type:  Journal Article     Date:  2006-05-19
Journal Detail:
Title:  European journal of heart failure     Volume:  8     ISSN:  1388-9842     ISO Abbreviation:  Eur. J. Heart Fail.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-11-27     Completed Date:  2007-02-21     Revised Date:  2011-06-08    
Medline Journal Info:
Nlm Unique ID:  100887595     Medline TA:  Eur J Heart Fail     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  826-31     Citation Subset:  IM    
Department of Cardiology, Heart Lung Center Utrecht, University Medical Center, Heidelberglaan 100, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.
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MeSH Terms
Cardiomyopathies / pathology*
Disease Susceptibility
Magnetic Resonance Imaging
Middle Aged
Comment In:
Eur J Heart Fail. 2007 Jan;9(1):101-2; author reply 102-3   [PMID:  17027332 ]

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