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Cardiovascular Genetics: A News Round-Up

Selected News Items

Summarized by; Wolfgang Lieb, MD; Ramachandran S. Vasan, MD

From the Framingham Heart Study, Boston University School of Medicine, Boston, Mass.

Correspondence to Ramachandran S. Vasan, MD, FACC, Framingham Heart Study, 73 Mount Wayte Ave, Suite 2, Framingham, MA 01702-5803.E-mail vasan@bu.edu

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Mutations in Sarcomeric Protein Genes Account for a Substantial Proportion of Idiopathic Cardiac Hypertrophy in Children

 
1.Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008;358:1899–1908. PMID: 18403758.

Study Hypothesis
Mutations in sarcomere proteins that are implicated in adult forms of hypertrophic cardiomyopathy may play a role in idiopathic cardiac hypertrophy with onset in childhood, a disorder associated with poor prognosis.

How Was the Hypothesis Tested?
Morita and colleagues¹ screened for mutations in 8 genes encoding sarcomeric proteins (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, and ACTC) using direct sequencing techniques in 84 children with idiopathic cardiac hypertrophy. Mutations in these genes cause adult-onset cardiomyopathy.

Principal Findings
The authors identified mutations in almost half of children without a positive family history of cardiomyopathy (25 of 51 affected children) and in two thirds (21 of 33) of affected children with familial cardiomyopathy. Mutations in MYH7 (encoding β-myosin heavy chain) and MYBPC3 (encoding myosin-binding protein C) were the most frequent variants identified in the children. In the subgroup with sporadic (nonfamilial) cardiac hypertrophy, boys were more likely than girls to harbor mutations.

Implications
The authors conclude that childhood onset of cardiac hypertrophy should provoke genetic investigation and family assessment because about 50% of cases in this series were attributable to mutations routinely screened for in adults with unexplained cardiac hypertrophy. Identification of such mutations in children with cardiac hypertrophy would raise the possibility that management strategies used for adults with genetic cardiac hypertrophy may improve clinical outcomes in these children.

	Variation in the NPPA Gene May Predict Blood Pressure Response to Antihypertensive Drug Class and Modulate Cardiovascular Outcomes in Hypertensive Patients

 
2.Lynch AI, Boerwinkle E, . . . [Full Text of this Article]