[SCD-FORUM] 112E Female patient, 30 years old. Dr. Yunlong Xia

[SCD Symposium]

Dear Dr. Xia,
 
This is an interesting case. There is an original article published in Circulation. 2004;110:2163-2167. This paper reported 21 patients with same features as you reported in the your index case and her family. The genetic analysis of these patients revealed that there is a SCN5A mutation ( a heterozygous G-to-A mutation at position 3823 that changed an aspartic acid to asparagine (D1275N) in a highly conserved residue of exon 21) in all affected family members compared to no such mutations in 300 control chromosomes. This syndrome has an autosomal dominant pattern. In this syndrome, t here is a strong correlation between the penetrance of a conduction disorder and the manifestation of dilatation in this pedigree. This correlation is 100% for affected individuals beyond the youngest generation. This disroder is characterized by sinus node dysfunction, arrhythmia, and right and occasionally left ventricular dilatation and dysfunction. These patients showed enlarged right ventricle at early stages of the disease and occasionally biventricular enlargement and clinical features of DCM in later stages. 
 
I think genetic analysis of your patient would reveal the same mutation in the SCN5A gene and there is no chance for recover of LA stadstill. For more information, you can see this article.
 
Best regrads,
 
Majid Haghjoo,MD
Department of Pacemaker and Electrophysiology
Rajaie Cardiovascular Medical and Research Center
Tel: +98 21 2392 2931
Fax:+98 21 2204 8174
Tehran, Iran