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1.
Clin Physiol Funct Imaging ; 43(6): 431-440, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37334891

ABSTRACT

BACKGROUND: Atrial linear scars in Cox-Maze IV procedures are achieved using Cryothermy (Cryo) or radiofrequency (RF) techniques. The subsequent postoperative left atrial (LA) reverse remodelling is unclear. We used 2- and 3-dimensional echocardiography (2-3DE) to compare the impact of Cryo and RF procedures on LA size and function 1 year after Cox-maze IV ablation concomitant with Mitral valve (MV) surgery. METHODS: Seventy-two patients with MV disease and AF were randomized to Cryo (n = 35) or RF (n = 37) ablation. Another 33 patients were enroled without ablation (NoMaze). All patients underwent an echocardiogram the day before and 1 year after surgery. The LA function was assessed on 2D strain by speckle tracking and 3DE. RESULTS: Forty-two ablated patients recovered sinus rhythm (SR) 1 year after surgery. They had comparable left and right systolic ventricular function, LA volume index (LAVI), and 2D reservoir strain before surgery. At follow-up, the 3DE extracted reservoir and booster function were higher after RF (37 ± 10% vs. 26 ± 6%; p < 0.001) than Cryo ablation (18 ± 9 vs. 7 ± 4%; p < 0.001), while passive conduit function was comparable between groups (24 ± 11 vs. 20 ± 8%; p = 0.17). The extent of LAVI reduction depended on the duration of AF preoperatively. CONCLUSIONS: SR restoration after MV surgery and maze results in LA size reduction irrespective of the energy source used. Compared to RF, the extension of ablation area produced by Cryo implies a structural LA remodelling affecting LA systolic function.


Subject(s)
Atrial Fibrillation , Atrial Remodeling , Catheter Ablation , Echocardiography, Three-Dimensional , Humans , Atrial Fibrillation/diagnostic imaging , Atrial Fibrillation/surgery , Catheter Ablation/methods , Heart Atria/diagnostic imaging , Heart Atria/surgery , Maze Procedure , Treatment Outcome
2.
Lakartidningen ; 1192022 05 23.
Article in Swedish | MEDLINE | ID: mdl-35604225

ABSTRACT

Cosmetic breast implants are increasing in popularity. The presence of foreign material overlying the anterior wall of the heart can influence cardiac imaging and lead to misdiagnosis of cardiac disease.  Echocardiography is commonly used in patients for evaluation of cardiac structure and function. Breast implants can cause impaired quality of the echocardiographic images because of an interaction between the implant material and the ultrasound beam, and as a consequence this can lead to a decreased diagnostic accuracy. In myocardial perfusion imaging breast implant can induce attenuation artifacts, which can be mistaken for myocardial infarction. The number of indications for cardiac MRI examinations are increasing, but also with this technique the presence of breast implants can induce artefacts that impair the possibilities to optimal quality. Women considering breast augmentation should be informed of the risk that the procedure can result in impaired quality of different cardiac imaging modalities.


Subject(s)
Breast Implants , Artifacts , Breast Implants/adverse effects , Echocardiography/methods , Female , Heart , Humans , Magnetic Resonance Imaging
3.
Circ Heart Fail ; 14(9): e008121, 2021 09.
Article in English | MEDLINE | ID: mdl-34550004

ABSTRACT

BACKGROUND: Prior studies of structural and electrocardiographic changes in arrhythmogenic right ventricular (RV) cardiomyopathy and their role in predicting ventricular arrhythmias (ventricular tachycardia) have shown conflicting results. METHODS: We reviewed 405 ECGs, 315 transthoracic echocardiographies, and 441 implantable cardioverter defibrillator interrogations in 64 arrhythmogenic RV cardiomyopathy patients (56% men, mean age [SD], 44.2 [14.6] years) over a mean follow-up of 10 (range, 2.3-19) years. Generalized estimating equations were used to identify the association between ECG abnormalities, clinical variables, and transthoracic echocardiographic measurements (>mild degree of tricuspid regurgitation, RV outflow tract diameter in parasternal long axis and short axis, RV end-diastolic area, fractional area change). RESULTS: There was a 4.65 (95% CI, 0.51%-8.8%) increase in RV end-diastolic area, a 3.75 (95% CI, 1.17%-6.34%) decrease in fractional area change, and 1.9 (95% CI, 1.3-2.8) higher odds (odds ratio) of RV wall motion abnormality with every 5-year increase in age after patients' first transthoracic echocardiography. >Mild tricuspid regurgitation was an independent predictor of RV enlargement and dysfunction (hazard ratio of >10% drop in fractional area change from baseline [95% CI], 3.51 [1.77-6.95] and hazard ratio of >10% increase in RV end-diastolic area from baseline [95% CI], 4.90 [2.52-9.52]). Patients with implantable cardioverter defibrillator were more likely to develop >mild tricuspid regurgitation and larger structural and functional disease progression. More pronounced increase in RV end-diastolic area was translated into higher rates of any ventricular tachycardia. Inferior T-wave inversions and sum of R waves (mm) in V1 to V3 were predictors of RV enlargement and dysfunction with the former also predicting risk of any ventricular tachycardia. CONCLUSIONS: Arrhythmogenic RV cardiomyopathy is a progressive disease. Tricuspid regurgitation is an independent predictor of structural disease progression, which may be exacerbated by use of a transvenous implantable cardioverter defibrillator lead.


Subject(s)
Arrhythmias, Cardiac/physiopathology , Arrhythmogenic Right Ventricular Dysplasia/physiopathology , Heart Failure/physiopathology , Tachycardia, Ventricular/physiopathology , Adult , Electrocardiography/methods , Female , Heart Ventricles/physiopathology , Humans , Male , Middle Aged , Time , Ventricular Function, Right/physiology , Young Adult
4.
Ann Intensive Care ; 11(1): 52, 2021 Mar 30.
Article in English | MEDLINE | ID: mdl-33782770

ABSTRACT

BACKGROUND: Left ventricular longitudinal strain (LVLS) may be a sensitive indicator of left ventricular (LV) systolic function in patients with sepsis, but is dependent on high image quality and analysis software. Mitral annular plane systolic excursion (MAPSE) and the novel left ventricular longitudinal wall fractional shortening (LV-LWFS) are bedside echocardiographic indicators of LV systolic function that are less dependent on image quality. Both are sparsely investigated in the critically ill population, and may potentially be used as surrogates for LVLS. We assessed if LVLS may be predicted by LV-LWFS and MAPSE in patients with septic shock. We also assessed the repeatability and inter-rater agreement of LVLS, LV-LWFS and MAPSE measurements. RESULTS: 122 TTE studies from 3 echocardiographic data repositories of patients admitted to ICU with septic shock were retrospectively assessed, of which 73 were suitable for LVLS analysis using speckle tracking. The correlations between LVLS vs. LV-LWFS and LVLS vs. MAPSE were 0.89 (p < 0.001) and 0.81 (p < 0.001) with mean squared errors of 5.8% and 9.1%, respectively. Using the generated regression equation, LV-LWFS predicted LVLS with a high degree of accuracy and precision, with bias and limits of agreement of -0.044 ± 4.7% and mean squared prediction error of 5.8%. Interobserver repeatability was good, with high intraclass correlation coefficients (0.96-0.97), small bias and tight limits of agreement (≤ 4.1% for all analyses) between observers for all measurements. CONCLUSIONS: LV-LWFS may be used to estimate LVLS in patients with septic shock. MAPSE also performed well, but was slightly inferior compared to LV-LWFS in estimating LVLS. Feasibility of MAPSE and LV-LWFS was excellent, as was interobserver repeatability.

5.
Clin Physiol Funct Imaging ; 40(5): 320-327, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32364658

ABSTRACT

INTRODUCTION: Cardiac adaptation to sustained exercise in the athletes is established. However, exercise-associated effect on the cardiac function of the elderly has to be elucidated. The aim of this study was to analyse left (LV) and right ventricular (RV) characteristics at different levels of chronic exercise in the senior heart. MATERIALS AND METHODS: We studied 178 participants in the World Senior Games (mean age 68 ± 8 years, 86 were men; 48%). Three groups were defined based on the type and intensity of sports: low-, moderate- and high-intensity level. Exclusion criteria were coronary artery disease, atrial fibrillation, valvular heart disease or uncontrolled hypertension. LV and RV size and function were evaluated with an echocardiogram. RESULTS: LV trans-mitral inflow deceleration time decreased in parallel to the intensity of chronic exercise: 242 ± 54 ms in low-, 221 ± 52 ms in moderate- and 215 ± 58 ms in high-intensity level, p = .03. Left atrial volume index (LAVI) was larger in high-intensity group, p = .001. The LAVI remained significantly larger when adjusting for age, gender, heart rate, hypertension and diabetes (p = .002). LV and RV sizes were larger in the high-intensity group. LV ejection fraction and RV systolic function evaluated by tissue Doppler velocity, atrioventricular plane displacement and strain did not differ between groups. CONCLUSION: Left ventricular diastolic filling is not only preserved, but may also be enhanced in long-term, top-level senior athletes. Moreover, LV and RV systolic function remain unchanged at different levels of exercise. This supports the beneficial effects of endurance exercise participation in senior hearts.


Subject(s)
Sports , Ventricular Function, Right , Adaptation, Physiological , Aged , Diastole , Exercise , Humans , Male , Middle Aged , Stroke Volume , Ventricular Function, Left
6.
J Cardiovasc Electrophysiol ; 30(10): 1801-1810, 2019 10.
Article in English | MEDLINE | ID: mdl-31310380

ABSTRACT

INTRODUCTION: The clinical role of atrial arrhythmias (AA) in arrhythmogenic right ventricular cardiomyopathy (ARVC) and the echocardiographic variables that predict them are not well defined. We describe the prevalence, types, echocardiographic predictors, and management of AA in patients with ARVC. METHODS: We retrospectively evaluated medical records of 117 patients with definite ARVC (2010 Task Force Criteria) from two tertiary care centers. We identified those patients with sustained AA (>30 seconds), including atrial fibrillation (AF), atrial flutter (AFL), and atrial tachycardia (AT). We collected demographic, genetic, and clinical data. The median follow-up was 3.4 years (interquartile range = 2.0-5.7). RESULTS: Total 26 patients (22%) had one or more types of AA: AF (n = 19), AFL (n = 9), and AT (n = 8). We performed genetic testing on 84 patients with ARVC (71.8%). Two patients with AA (8%) had peripheral emboli, and one patient (4%) suffered inappropriate implantable cardioverter-defibrillator shock. We performed catheter ablation of AA in eight patients (31%), with no procedural complications. Right atrial area and left atrial volume index were independently associated with increased odds of AA; odds ratio (OR), 1.1 (95% confidence interval [CI]:1.02-1.16) (P = .01) and OR, 1.1 (95% CI:1.03-1.15) (P = .003), respectively. An increase in tricuspid annular plane peak systolic excursion was independently associated with reduced odds; OR, 0.3 (95% CI: 0.1-0.94) (P = .003). CONCLUSIONS: Atrial arrhythmias (AA) are common in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). Inappropriate shocks and systemic emboli may be associated with AA. Atrial size and right ventricular dysfunction may help identify patients with ARVC at increased odds of AA.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging , Atrial Fibrillation/surgery , Atrial Flutter/surgery , Catheter Ablation , Echocardiography , Tachycardia, Supraventricular/surgery , Action Potentials , Adult , Aged , Arrhythmogenic Right Ventricular Dysplasia/epidemiology , Arrhythmogenic Right Ventricular Dysplasia/physiopathology , Atrial Fibrillation/diagnosis , Atrial Fibrillation/epidemiology , Atrial Fibrillation/physiopathology , Atrial Flutter/diagnosis , Atrial Flutter/epidemiology , Atrial Flutter/physiopathology , Catheter Ablation/adverse effects , Female , Heart Rate , Humans , Male , Middle Aged , Predictive Value of Tests , Prevalence , Retrospective Studies , Risk Assessment , Risk Factors , San Francisco , Sweden , Tachycardia, Supraventricular/diagnosis , Tachycardia, Supraventricular/epidemiology , Tachycardia, Supraventricular/physiopathology , Time Factors , Treatment Outcome
7.
Scand Cardiovasc J ; 53(4): 206-212, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31144537

ABSTRACT

Objectives. Exercise electrocardiogram (ExECG) in low risk populations frequently generates false positive ST depression. We aimed to characterize factors that are associated with exercise-induced ST depression in asymptomatic men without coronary artery disease. Design. Cycle ergometer exercise tests from 509 male firefighters without imaging proof of significant coronary artery disease were analysed. Analysed test data included heart rate at rest before exercise, and workload, blood pressure, heart rate, ST depression and ST segment slope at peak exercise. ST depression of >0.1 mV was considered significant (STdep). With a mean follow-up of 6.1 ± 1.7 years, medical records were reviewed for cardiovascular diagnoses, hyperlipidemia and diabetes. Logistic regression analysis was used for risk assessment. Results. In total, 22% had STdep in ≥1 lead. Subjects with STdep were older than those with normal ExECG (p < .001). Downsloping STdep was more common in extremity leads (9%) than in precordial leads (2%). STdep was categorized according to location (precordial/extremity) and slope direction into eight categories. Larger age-adjusted heart rate increase predicted STdep in seven categories (p < .05). Age-adjusted peak heart rate correlated with STdep in five categories, predominantly where the ST slope was positive. Peak blood pressure and exercise capacity were both associated with STdep in few categories. We found no association between STdep and hypertension, hyperlipidemia or diabetes (all p > .05). Conclusions. In asymptomatic men with a physically demanding occupation and no coronary artery disease, both age and heart rate response were associated with ST depression, whereas common cardiovascular risk factors, blood pressure response and exercise capacity were not.


Subject(s)
Electrocardiography , Exercise Test , Exercise/physiology , Heart Rate , ST Elevation Myocardial Infarction/diagnosis , Adult , Age Factors , False Positive Reactions , Firefighters , Humans , Male , Middle Aged , Predictive Value of Tests , ST Elevation Myocardial Infarction/physiopathology , Time Factors , Work Capacity Evaluation
8.
Physiol Rep ; 7(2): e13968, 2019 01.
Article in English | MEDLINE | ID: mdl-30688031

ABSTRACT

Exercise electrocardiography (ExECG) is regularly performed by Swedish firefighters by law. Heart rate-corrected analysis of ST segment variables (ST/HR) has shown improved prediction of ischemic heart disease (IHD) compared to ST depression alone. This has not previously been extensively studied in asymptomatic persons with a low probability of IHD. We therefore evaluated the predictive performance of ST/HR analysis in firefighter ExECG. ExECG was studied in 521 male firefighters. During 8.4 ± 2.1 years, 2.3% (n = 12) were verified with IHD by catheterization or myocardial scintigraphy (age 51.5 ± 5.5 years) and were compared with firefighters without imaging proof of IHD (44.2 ± 10.1 years). The predictive value of ST depression, ST/HR index, ST/HR slope, and area and rotation of the ST/HR loop was calculated as age-adjusted odds ratios (OR), in 10 ECG leads. Predictive accuracy was analyzed with receiver operating characteristics (ROC) analysis. ST/HR index ≤-1.6 µV/bpm and ST/HR slope ≤-2.4 µV/bpm were associated with increased IHD risk in three individual leads (all OR > 1.0, P < 0.05). ST/HR loop area lower than the fifth percentile of non-IHD subjects indicated IHD risk in V4, V5, aVF, II, and -aVR (P < 0.05). ST depression ≤-0.1 mV was associated with IHD only in V4 (OR, 9.6, CI, 2.3-40.0). ROC analysis of each of these variables yielded areas under the curve of 0.72 or lower for all variables and leads. Clockwise-rotated ST/HR loops was associated with increased risk in most leads compared to counterclockwise rotation. The limited clinical value of ExECG in low-risk populations was emphasized, but if performed, ST/HR analysis should probably be given more importance.


Subject(s)
Electrocardiography/methods , Exercise , Firefighters/statistics & numerical data , Heart Rate/physiology , Myocardial Ischemia/diagnosis , Adult , Cohort Studies , Electrocardiography/statistics & numerical data , Humans , Male , Middle Aged , Myocardial Ischemia/epidemiology , Predictive Value of Tests , ROC Curve , Risk Factors , Sweden/epidemiology
9.
J Am Soc Echocardiogr ; 31(5): 527-550.e11, 2018 05.
Article in English | MEDLINE | ID: mdl-29573927

ABSTRACT

The cardiopulmonary vascular system represents a key determinant of prognosis in several cardiorespiratory diseases. Although right heart catheterization is considered the gold standard for assessing pulmonary hemodynamics, a comprehensive noninvasive evaluation including left and right ventricular reserve and function and cardiopulmonary interactions remains highly attractive. Stress echocardiography is crucial in the evaluation of many cardiac conditions, typically coronary artery disease but also heart failure and valvular heart disease. In stress echocardiographic applications beyond coronary artery disease, the assessment of the cardiopulmonary vascular system is a cornerstone. The possibility of coupling the left and right ventricles with the pulmonary circuit during stress can provide significant insight into cardiopulmonary physiology in healthy and diseased subjects, can support the diagnosis of the etiology of pulmonary hypertension and other conditions, and can offer valuable prognostic information. In this state-of-the-art document, the topic of stress echocardiography applied to the cardiopulmonary vascular system is thoroughly addressed, from pathophysiology to different stress modalities and echocardiographic parameters, from clinical applications to limitations and future directions.


Subject(s)
Echocardiography, Stress/methods , Hypertension, Pulmonary/diagnosis , Pulmonary Artery/diagnostic imaging , Pulmonary Circulation/physiology , Ventricular Function, Right/physiology , Humans , Hypertension, Pulmonary/physiopathology , Pulmonary Artery/physiopathology , Reproducibility of Results
10.
Clin Physiol Funct Imaging ; 38(5): 779-787, 2018 Sep.
Article in English | MEDLINE | ID: mdl-29105955

ABSTRACT

PURPOSE: To assess right ventricular (RV) regional and global systolic function using feature tracking (FT) in patients with a definite diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) and to investigate if changes in strain amplitude and mechanical dispersion indicate a propensity for arrhythmia. MATERIALS AND METHODS: Twenty-seven patients fulfilling Task Force Criteria for ARVC and 24 healthy volunteers underwent MR at 1·5 Tesla. Steady-state free precession cine of long-axis slices and a short-axis stack of the RV was acquired. Segmental longitudinal systolic strain amplitude and time-to-peak (TTP) strain were measured in the four- and two-chamber views of the RV. RESULTS: Compared to controls, patients with ARVC had lower RV ejection fraction (RVEF), (53% vs 57%, P = 0·012) and lower longitudinal strain amplitude in the RV free wall (-20·6 vs -26·3%, P = 0·014) and in the basal part of the RV (-22·8 vs -31·7%, P<0·001). Mechanical dispersion, defined as the standard deviation (SD) of TTP of RV segments, was larger in patients with ARVC (48 ms [21-74] vs 35 ms [13-66 ms], P = 0·02). Patients with ventricular tachycardia (VT) or non-sustained VT had lower RVEF (46% vs 55%, P = 0·008), but did not have significantly lower RV strain amplitude (-19·5% vs 21·0%, P = 0·073) and no signs of mechanical dispersion (49 ms vs 48 ms, P = 0·861) compared to patients without arrhythmia. CONCLUSION: ARVC patients had lower longitudinal absolute strain amplitude in basal RV segments and increased mechanical dispersion compared to healthy volunteers, but the presence of mechanical dispersion was not predictive of ventricular arrhythmia.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging , Heart Ventricles/diagnostic imaging , Magnetic Resonance Imaging, Cine , Tachycardia, Ventricular/diagnostic imaging , Ventricular Dysfunction, Right/diagnostic imaging , Ventricular Function, Right , Adult , Aged , Area Under Curve , Arrhythmogenic Right Ventricular Dysplasia/complications , Arrhythmogenic Right Ventricular Dysplasia/physiopathology , Biomechanical Phenomena , Case-Control Studies , Electrocardiography , Female , Heart Rate , Humans , Male , Middle Aged , Predictive Value of Tests , ROC Curve , Registries , Reproducibility of Results , Risk Factors , Stroke Volume , Systole , Tachycardia, Ventricular/etiology , Tachycardia, Ventricular/physiopathology , Ventricular Dysfunction, Right/complications , Ventricular Dysfunction, Right/physiopathology , Young Adult
11.
Clin Physiol Funct Imaging ; 37(1): 37-44, 2017 Jan.
Article in English | MEDLINE | ID: mdl-26096157

ABSTRACT

The fitness of firefighters is regularly evaluated using exercise tests. We aimed to compare, with respect to age and body composition, two test modalities for the assessment work capacity. A total of 424 Swedish firefighters with cycle ergometer (CE) and treadmill (TM) tests available from Jan 2004 to Dec 2010 were included. We compared results from CE (6 min at 200 W, 250 W or incremental ramp exercise) with TM (6 min at 8° inclination, 4·5 km h-1 or faster, wearing 24-kg protective equipment). Oxygen requirements were estimated by prediction equations. It was more common to pass the TM test and fail the supposedly equivalent CE test (20%), than vice versa (0·5%), P<0·001. Low age and tall stature were significant predictors of passing both CE and TM tests (P<0·05), while low body mass predicted accomplishment of TM test only (P = 0·006). Firefighters who passed the TM but failed the supposedly equivalent CE test within 12 months had significantly lower body mass, lower BMI, lower BSA and shorter stature than did those who passed both tests. Calculated oxygen uptake was higher in TM tests compared with corresponding CE tests (P<0·001). Body constitution affected approval differently depending on the test modality. A higher approval rate in TM testing suggests lower cardiorespiratory requirements compared with CE testing, even though estimated oxygen uptake was higher during TM testing. The relevance of our findings in relation to the occupational demands needs reconsidering.


Subject(s)
Bicycling , Cardiorespiratory Fitness , Exercise Test , Firefighters , Job Description , Walking , Work Capacity Evaluation , Adult , Age Factors , Aged , Blood Pressure , Body Composition , Body Height , Electrocardiography , Heart Rate , Humans , Male , Middle Aged , Models, Biological , Oxygen Consumption , Predictive Value of Tests , Retrospective Studies , Sweden , Time Factors , Young Adult
12.
Scand Cardiovasc J ; 51(1): 15-20, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27248647

ABSTRACT

OBJECTIVE: The indications for and the risk and benefit of concomitant surgical ablation for atrial fibrillation (AF) have not been fully delineated. Our aim was to survey whether the Cox-maze IV procedure is associated with postoperative heart failure (PHF) or other adverse short-term outcomes after mitral valve surgery (MVS). DESIGN: Consecutive patients with AF undergoing MVS with (n = 50) or without (n = 66) concomitant Cox-maze IV cryoablation were analysed regarding perioperative data and one-year mortality. RESULTS: The patients in the Maze group were younger, were in lower NYHA classes, had better right ventricular function and had lower pulmonary artery pressure. The Maze group had 30 min longer median cross-clamp time (CCT) and 50% had PHF compared with 33% in the No-maze group, p = 0.09. Two patients in the No-maze group died within one year of surgery. Congestive heart failure (OR 4.3 [CI 95%: 1.8-10], p < 0.0001) and CCT (OR 1.03 [CI 95%: 1.01-1.04], p = 0.001) were associated with PHF. CONCLUSION: The current data cannot exclude that concomitant cryoablation increases the risk for PHF, possibly by increasing the cross clamp time.


Subject(s)
Atrial Fibrillation/surgery , Cryosurgery/adverse effects , Heart Failure/etiology , Heart Valve Diseases/surgery , Mitral Valve/surgery , Aged , Atrial Fibrillation/complications , Atrial Fibrillation/diagnosis , Atrial Fibrillation/mortality , Constriction , Cryosurgery/mortality , Databases, Factual , Female , Heart Failure/diagnosis , Heart Failure/mortality , Heart Failure/physiopathology , Heart Valve Diseases/complications , Heart Valve Diseases/mortality , Heart Valve Diseases/physiopathology , Humans , Kaplan-Meier Estimate , Logistic Models , Male , Middle Aged , Mitral Valve/physiopathology , Odds Ratio , Operative Time , Risk Assessment , Risk Factors , Time Factors , Treatment Outcome
13.
Am J Cardiovasc Dis ; 6(2): 55-65, 2016.
Article in English | MEDLINE | ID: mdl-27335691

ABSTRACT

In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient's history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed "possible ARVC". One with "borderline ARVC" and the rest with "definite ARVC" demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with "possible ARVC". These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia.

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