Alleles for
Long –QT Syndrome are More Often Transmitted to Daughters
Than to Sons
Congenital
long-QT syndrome is a rare cardiac disorder in which
patients present with a prolongation of the QT interval of
the heart rate. The patients are at risk for ventricular
arrhythmias, which could lead to syncope and death.
Inheritance of long-QT syndrome is autosomal dominant but
can also be recessive. Mutations in the potassium-channel
genes, KCNQ1 and KCNH2, cause type 1 and type 2 forms of the
disease, respectively. A female predominance has often been
observed and has been attributed to an increased
susceptibility to cardiac arrhythmias. Pascale Guicheney,
PhD et al from the INSERM in Paris, France investigated the
possibility of an unbalanced transmission of the deleterious
trait to women. Their results showed a skewed segregation of
the mutations from mothers to their daughters and explained
how it contributes to the female predominance in long-QT
syndrome. The study was published in the December 28, 2006
issue of The
New
England Journal of Medicine.
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Balloon Mitral
Valvuloplasty Effectively Relieves Severe Congenital Mitral
Stenosis
Congenital mitral stenosis (MS) is
a rare condition that is often associated with left heart
obstructions. Treatments for MS include balloon mitral
valvuloplasty (BMVP), surgical mitral valvuloplasty (SMVP) and
mitral valve replacement (MVR). A study by Dr. Doff McElhinney
et al from Harvard Medical School compared the outcomes of
patients with severe congenital MS who underwent BMVP or
surgical intervention. The study, which was published in the
August 2, 2005 issue of Circulation found BMVP
effectively relieves left ventricular inflow obstruction in the
majority of cases and is the preferred mode of treatment in
most infants with severe congenital MS.
MORE…
Percutaneous Closure
of Patent Foramen Ovale May Prove Superior to Drug Therapy in
Prevention of Stroke