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The article presents a study which determined the mutation frequency in MYH11, ACTA2, TGΒRI, and TGFΒRII in a population of individuals with genetically mediated thoracic aortic aneurysm (TAA). Nine percent of patients had mutation in one of the genes analyzed while three percents had mutations in ACTA2. Analyses showed that the TGFΒ2;IIb activating mutations alter receptor function on TGFΒ2 signaling.

PRKAG2 Gene in Sporadic WPW Syndrome. Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP-activated protein kinase have been shown to cause autosomal dominant Wolff-Parkinson-White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high-performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty-six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome.(J Cardiovasc Electrophysiol, Vol. 14, pp. 263-268, March 2003). [ABSTRACT FROM AUTHOR]

The author looks at the idea of genetic testing as means of improving the diagnosis and treatment of hypertrophic cardiomyopathy (HCM). HCM is a hereditary disease that has infected at least 1 person in 500 people worldwide and occurs through mutations in genes encoding contractile proteins. The 2003 American College of Cardiology/European Society of Cardiology Task Force on HCM proved that genetic testing is still an effective method of diagnosing the disease.

Reports on mutations in the gene encoding the homeobox transcription factor NKX2-5 that were found to cause nonsyndromic, human congenital heart disease. Three different NKX2-5 mutations that were identified; Indications of data that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.