ECG of family members.

<p>(A) Twelve-lead ECG of index case. The ECG shows QTc of 500 ms. (B) Twelve-lead ECG of mother’s index case. The ECG shows a normal QTc, and (C) a LQT during tachycardia registered by Holter. (D) Twelve-lead ECG of brother’s index case. The ECG shows QTc of 485 ms.</p

NGS data showing CNV in the <i>KCNQ1</i> gene.

<p>(A) Coverage of all exons in the <i>KCNQ1</i> gene of several samples. (B) Detail coverage of exons 7 and 8 in several samples. (C) Normalized raw coverage of exons 7 and 8 showing a deletion in comparison to all other exons of the same gene. (D) In detail, normalized raw coverage of exons 7 and 8.</p

List of the 55 SCD-related genes included in our panel and its association with the disease.

<p>List of the 55 SCD-related genes included in our panel and its association with the disease.</p

Pedigree of the family with variants that did not show segregation (ID#18–19).

<p>Pedigree of the family with variants that did not show segregation (ID#18–19).</p

Pedigree and electropherogram.

<p>(A) Index case is II.1. White round/squares indicate healthy status after clinical evaluation. Grey round/squares indicate LQTS after clinical evaluation. Plus sign indicates carrier of genetic variation. Minus sign indicates non-carrier of the genetic variation. (B) Electropherogram of the genetic variation identified (p.R20729G_<i>TTN</i>).</p

Rare genetic variants identified in our cohort.

<p>Rare genetic variants identified in our cohort.</p

Clinical data for the investigated cohort.

<p>Clinical data for the investigated cohort.</p

Pedigrees of the families with variants showing complete segregation (ID#1–4).

<p>Pedigrees of the families with variants showing complete segregation (ID#1–4).</p

Pedigrees of the families with variants showing an incomplete pattern of inheritance (ID#5–8).

<p>Pedigrees of the families with variants showing an incomplete pattern of inheritance (ID#5–8).</p

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

<div><p>Background</p><p>Patients with end-stage renal disease have very high mortality. In individuals on hemodialysis, cardiovascular deaths account for ~50% of all deaths in this population, mostly due to arrhythmia. To determine the causes of these arrhythmic deaths is essential in order to adopt preventive strategies. The main objective of this study was to investigate whether, the presence of QTc interval alterations, from electrolyte abnormalities or presence of rare genetic variants, could have a relationship with sudden arrhythmogenic deaths in end-stage renal disease patients.</p><p>Methods</p><p>We recorded the pre- and post-dialysis QTc interval in 111 patients undergoing hemodialysis. In 47 of them, we analyzed 24 SCD-related genes including the most prevalent genes associated with long QT syndrome using a custom resequencing panel.</p><p>Results</p><p>We found a positive although not significant association between the presence of long QTc and mortality in a subset of end-stage renal disease patients. In addition, in five patients with long QTc only after dialysis (21.7%) we detected rare potentially pathogenic genetic variants. Three out of these five carriers subsequently died suddenly.</p><p>Conclusions</p><p>Genetic background may be determinant in the risk of sudden cardiac death in these patients. We recommend evaluating the QTc interval before and after hemodialysis, and performing a genetic analysis of individuals with long QTc after hemodialysis.</p></div