Document Detail

Familial hypertrophic cardiomiopathy: molecular basis and genotype-phenotype correlations.
MedLine Citation:
PMID:  9835779     Owner:  NLM     Status:  MEDLINE    
The impact of molecular genetics in the diagnosis and management of various forms of heritable cardiac or vascular disorders is continuously increasing thanks to the newly available laboratory tools. Familial hypertrophic cardiomyopathy (FHC), an autosomal dominant inherited disease characterized by unexplained left ventricular hypertrophy and a wide range of clinical symptoms, is the first cardiac disorder whose genetic bases have been elucidated. Linkage analysis studies have shown a statistically significant association between the disease status and at least seven genetic loci, all coding for sarcomeric proteins, in unrelated kindreds. A major challenge for physicians is to make an accurate and early diagnosis, not only on the basis of the traditional tools (i.e. physical examination and electro-echocardiography) but also to focus on the impact of genotype on clinical manifestations of FHC. In this review we present the more recent findings on the genetic basis of FHC and analyze the genotype-phenotype correlations of this disorder, whose expression may be modulated by additional factors (modifier genes, genetic background, environmental factors) other than mutations in any of the sarcometric proteins.
G Cuda; A Lamberti; N Perrotti; F Perticone; P L Mattioli
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology     Volume:  17 Suppl 2     ISSN:  0870-2551     ISO Abbreviation:  Rev Port Cardiol     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1998-12-30     Completed Date:  1998-12-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8710716     Medline TA:  Rev Port Cardiol     Country:  PORTUGAL    
Other Details:
Languages:  eng     Pagination:  II21-31     Citation Subset:  IM    
Department of Experimental and Clinical Medicine, G. Salvatore Medical School.
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MeSH Terms
Cardiomyopathy, Hypertrophic / genetics*
Chickens / genetics
Myosin Heavy Chains / genetics
Myosin Light Chains / genetics
Protein C / genetics
Troponin T / genetics
Reg. No./Substance:
0/Myosin Heavy Chains; 0/Myosin Light Chains; 0/Protein C; 0/Troponin T

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