Document Detail

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
MedLine Citation:
PMID:  22009732     Owner:  NLM     Status:  Publisher    
Coffin-Lowry syndrome (CLS) is an X-linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and skeletal malformations. The syndrome is due to mutations in the gene that encodes the ribosomal protein S6 kinase-2, a growth factor-regulating protein kinase located on Xp22.2. Cardiac anomalies are known to be associated with CLS. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by left ventricular (LV) myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may present with a variety of clinical phenotypes, ranging from a complete absence of symptoms to a rapid, progressive decline in LV systolic and diastolic function, resulting in congestive heart failure, malignant ventricular tachyarrhythmias, and systemic thromboembolic events. Restrictive cardiomyopathy is an uncommon primary cardiomyopathy characterized by biatrial enlargement, normal or decreased biventricular volume, impaired ventricular filling, and normal or near-normal systolic function. We describe a patient with CLS and LVNC with a restrictive pattern, as documented by echocardiography and cardiac catheterization. To our knowledge, there have been no previous reports of concomitant CLS and LVNC. On the basis of our case, we suggest that patients with CLS be screened not only for congenital structural heart defects but also for LVNC cardiomyopathy. © 2011 Wiley Periodicals, Inc.
Hugo R Martinez; Mary C Niu; V Reid Sutton; Ricardo Pignatelli; Matteo Vatta; John L Jefferies
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-18
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Wiley Periodicals, Inc.
The Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas.
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