Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result.

First-degree relatives of a proband with an inherited cardiac condition (ICC) are offered predictive genetic testing for the pathogenic or likely pathogenic (P/LP) cardiac gene variant (CGV) to clarify their risk for the familial condition. Relatives who test negative for a familial P/LP CGV typically do not require longitudinal cardiac surveillance. To our knowledge, no previous study has investigated adjustment to risk reduction and subsequent screening practices in genotype-negative relatives from an ICC population. We thus investigated risk perception and ongoing screening practices in genotype-negative adults who received cardiac genetic counseling. Correlations between clinical and demographic variables and risk perception and screening practices were also investigated. On average, participants (n = 71) reported a perceived 19.5% lifetime risk of developing the ICC in their family, despite their negative genetic test result. The majority (54%) of participants reported having undergone cardiac screening after disclosure of their negative result. There were no significant correlations between clinical and demographic variables and risk perception or screening practices. Furthermore, risk perception was not found to impact the likelihood of cardiac screening. These findings suggest that even with comprehensive cardiac genetic counseling, a proportion of this population did not accurately comprehend or recall their cardiac disease risk. Additional interventions beyond traditional result disclosure should be explored to help genotype-negative individuals adjust to their reduction in risk for a familial ICC.

Validation of the noncontact mapping system in the left atrium during permanent atrial fibrillation and sinus rhythm.

OBJECTIVES: The aim of this study was to validate noncontact mapping (NCM) in the left atrium (LA) during sinus rhythm and atrial fibrillation (AF). BACKGROUND: Understanding the mechanisms of AF is crucial to the development of novel and effective treatments. Noncontact mapping records global electrical activation simultaneously and therefore has the potential to elucidate these mechanisms. METHODS: Patients underwent catheter ablation of permanent AF guided by NCM. Virtual and contact unipolar electrograms were recorded simultaneously during sinus rhythm and AF from sites spanning the LA and their morphology, amplitude, and timing were compared. The impact of distance from the array to the endocardial surface and electrogram amplitude were analyzed. RESULTS: A total of 22 patients age 52 +/- 9 (mean +/- SD) years were studied. During sinus rhythm, the median (range) morphology correlation and timing difference between contact and virtual atrial electrograms were 0.81 (0.27 to 0.98) and 4.2 (0 to 18.3) ms, respectively. These results were significantly worse than the corresponding far field individual ventricular electrograms; 0.91 (0.53 to 1.0) and 1.7 (0 to 18.3) ms (p < 0.001). For endocardial sites >40 mm from the array, the correlation was significantly worse than sites <40 mm: 0.73 (0.48 to 0.95) versus 0.87 (0.27 to 0.98) (p < 0.001). The correlation during AF was 0.72 (0.24 to 0.98), which deteriorated with increasing distance from the array. In the presence of adenosine induced atrioventricular block the correlation deteriorated 0.67 +/- 0.16 versus 0.79 +/- 0.11 (p < 0.001). CONCLUSIONS: Noncontact mapping can be performed in human LA; however, the accuracy of reconstructed electrograms is poor >40 mm from the center of the array, particularly during AF. Care must be taken interpreting isopotential maps if the entire endocardial surface of the LA is not close to the array.

Prolapse of the antero-superior leaflet of the tricuspid valve secondary to congenital anomalies of the valvar and sub-valvar apparatus: a rare cause of severe tricuspid regurgitation.

Congenital anomalies of the tricuspid valve, and/or its supporting apparatus, leading to severe tricuspid regurgitation are rare. Although well tolerated in early childhood, long-standing and progressive volume loading of the right heart leads to symptoms of decreased exercise tolerance, and may predispose to arrhythmias in the long term. We report three cases of severe tricuspid regurgitation related to anomalies of the cords supporting the antero-superior leaflet of the tricuspid valve. Shortened cords leading to tethering of the leaflet were seen in two cases, and hypoplasia of the leaflet in the other. In all cases, the regurgitant jet was directed posteriorly towards the coronary sinus and atrial septum. Surgical repair was possible in one case, while it proved necessary to replace the valve in a second. The third child is asymptomatic and under regular review.