Left ventricular non-compaction: genetics and embryology

2018 ◽  
Author(s):  
Pablo Garcia-Pavia ◽  
Fernando Dominguez
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
European Society ◽  
Congenital Heart ◽  
Heart Defects ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Barth Syndrome ◽  
Cardiac Diseases ◽  
Genetic Overlap ◽  
European Society Of Cardiology

Left ventricular non-compaction (LVNC) is a rare disorder that is considered an ‘unclassified cardiomyopathy’ by the European Society of Cardiology. Several different gene mutations related to LVNC have been identified, involving sarcomeric, cytoskeletal, Z-line, ion channel, mitochondrial, and signalling proteins. However, there is broad genetic overlap between LVNC and other inherited cardiac diseases such as dilated cardiomyopathy and hypertrophic cardiomyopathy. LVNC could also be part of multisystemic genetic entities such as Barth syndrome, or accompany congenital heart defects.

Left ventricular non-compaction: genetics and embryology

ESC CardioMed ◽  
2018 ◽  
pp. 1505-1509
Author(s):  
Pablo Garcia-Pavia ◽  
Fernando Dominguez
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
European Society ◽  
Congenital Heart ◽  
Heart Defects ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Barth Syndrome ◽  
Cardiac Diseases ◽  
Genetic Overlap ◽  
European Society Of Cardiology

Left ventricular non-compaction (LVNC) is a rare disorder that is considered an ‘unclassified cardiomyopathy’ by the European Society of Cardiology. Several different gene mutations related to LVNC have been identified, involving sarcomeric, cytoskeletal, Z-line, ion channel, mitochondrial, and signalling proteins. However, there is broad genetic overlap between LVNC and other inherited cardiac diseases such as dilated cardiomyopathy and hypertrophic cardiomyopathy. LVNC could also be part of multisystemic genetic entities such as Barth syndrome, or accompany congenital heart defects.

Accuracy of the ECG for differential diagnosis between hypertrophic cardiomyopathy and athlete’s heart: comparison between the European Society of Cardiology (2010) and International (2017) criteria

2017 ◽  
Vol 52 (10) ◽  
pp. 667-673 ◽  
Author(s):  
Alessandro Zorzi ◽  
Chiara Calore ◽  
Riccardo Vio ◽  
Antonio Pelliccia ◽  
Domenico Corrado
Keyword(s):  
Differential Diagnosis ◽  
Hypertrophic Cardiomyopathy ◽  
European Society ◽  
Left Ventricular ◽  
Athlete’S Heart ◽  
Ecg Changes ◽  
Group 2 ◽  
European Society Of Cardiology ◽  
Athlete's Heart ◽  
Group 1

BackgroundInterpretation of the athlete’s ECG is based on differentiation between benign ECG changes and potentially pathological abnormalities. The aim of the study was to compare the 2010 European Society of Cardiology (ESC) and the 2017 International criteria for differential diagnosis between hypertrophic cardiomyopathy (HCM) and athlete’s heart.MethodsThe study populations included 200 patients with HCM and 563 athletes grouped as follows: ‘group 1’, including normal ECG and isolated increase of QRS voltages, which are considered non-pathologic according to ESC and International criteria; ‘group 2’, including left atrial enlargement or left axis deviation in isolation and Q-waves with an amplitude ≥4 mm but <25% of the ensuing R-wave and a duration <0.04 s which are considered pathologic according to the ESC but not according to the International criteria; and ‘group 3’, including abnormalities which are considered pathologic according to ESC and International criteria.ResultsOverall, the 2010 ESC criteria showed a sensitivity of 95.5% and a specificity of 86.9%. Considering group 2 ECG changes as normal according to the International criteria led to a statistically significant (p<0.001) increase of specificity to 95.9%, associated with a non-significant (p=0.47) reduction of sensitivity to 93%. Among patients with HCM, there was a significant increase of maximal left ventricular wall thickness from group 1 to 3 (p=0.02).ConclusionsThe use of 2017 International criteria is associated with a substantial increase in specificity and a marginal decrease in sensitivity for differential diagnosis between HCM and athlete’s heart.

scholarly journals A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy

EP Europace ◽  
2019 ◽  
Vol 21 (10) ◽  
pp. 1559-1565 ◽  
Author(s):  
Gabrielle Norrish ◽  
Tao Ding ◽  
Ella Field ◽  
Karen McLeod ◽  
Maria Ilina ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
European Society ◽  
Cardiac Death ◽  
Left Ventricular ◽  
Sustained Ventricular Tachycardia ◽  
Rank Test ◽  
European Society Of Cardiology

Abstract Aims Sudden cardiac death (SCD) is the most common cause of death in children with hypertrophic cardiomyopathy (HCM). The European Society of Cardiology (ESC) recommends consideration of an implantable cardioverter-defibrillator (ICD) if two or more clinical risk factors (RFs) are present, but this approach to risk stratification has not been formally validated. Methods and results Four hundred and eleven paediatric HCM patients were assessed for four clinical RFs in accordance with current ESC recommendations: severe left ventricular hypertrophy, unexplained syncope, non-sustained ventricular tachycardia, and family history of SCD. The primary endpoint was a composite outcome of SCD or an equivalent event (aborted cardiac arrest, appropriate ICD therapy, or sustained ventricular tachycardia), defined as a major arrhythmic cardiac event (MACE). Over a follow-up period of 2890 patient years (median 5.5 years), MACE occurred in 21 patients (7.5%) with 0 RFs, 19 (16.8%) with 1 RFs, and 3 (18.8%) with 2 or more RFs. Corresponding incidence rates were 1.13 [95% confidence interval (CI) 0.7–1.73], 2.07 (95% CI 1.25–3.23), and 2.52 (95% CI 0.53–7.35) per 100 patient years at risk. Patients with two or more RFs did not have a higher incidence of MACE (log-rank test P = 0.34), with a positive and negative predictive value of 19% and 90%, respectively. The C-statistic was 0.62 (95% CI 0.52–0.72) at 5 years. Conclusions The incidence of MACE is higher for patients with increasing numbers of clinical RFs. However, the current ESC guidelines have a low ability to discriminate between high- and low-risk individuals.

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

2021 ◽  
pp. 1-2
Author(s):  
Sedigheh Saedi ◽  
Pooneh Pashapour ◽  
Golnaz Houshmand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tricuspid Valve ◽  
Cardiac Death ◽  
Rare Case ◽  
Protein Gene ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Congenital Disease ◽  
Ventricular Cardiomyopathy ◽  
Sarcomeric Protein

Abstract Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

Complete Heart Block after open Heart Surgery in Children with Congenital Cardiac Diseases Feasibility of more waiting time before PPM administration

2021 ◽  
Vol 4 (11) ◽  
pp. 01-06
Author(s):  
Akbar Molaei
Keyword(s):  
Heart Block ◽  
Congenital Heart ◽  
Heart Surgery ◽  
Complete Heart Block ◽  
Heart Defects ◽  
Open Heart Surgery ◽  
Cardiac Conduction ◽  
Cardiac Diseases ◽  
Open Heart ◽  
Cardiac Disorders

Introduction: Congenital cardiac disorders are the most prevalent congenital disorders which require interventional or surgical treatments. The most common causes of complete heart block (CHB) are degeneration of cardiac conduction system, acute myocardial infarction and congenital cardiac disorders. CHB after congenital heart surgery is of paramount importance which causes post-operation death and heart failure. Application of a pacemaker is a standard treatment for CHB. The purpose of this paper is to study the frequency of early postoperative CHB in patients with congenital cardiac diseases and also the need for temporary (TPM) and permanent (PPM) pacemakers. Materials and methods: This descriptive-analytical and cross-sectional study was conducted on children with congenital heart defects who had undergone open-heart surgery in Tabriz’s Shahid Madani Hospital from 2011 to 2016. Patients with early postoperative CHB were included in the study. Those who had improved on their own and those who needed TPM and PPM were identified and at the end, the frequency of CHB and the need for TPM and PPM were assessed. Results: Of the 2100 operated patients, 109 patients developed early postoperative heart block. The frequency of early CHB after open heart surgery was 5.19%. Of the 109 patients, 69 patients (63.3%) with early postoperative CHB needed TPM, 9 patients needed PPM and 22 patients improved without pacemaker. Conclusion: The prevalence of early CHB in patients operated for congenital cardiac diseases was 5.19%. The need for TPM was high and most of the patients had improved cardiac rhythm with no need for PPM or TPM.

scholarly journals Акушерська кардіологія: мультидисциплінарне рішення для реалізації функції материнства GUCH-жінками

2019 ◽  
pp. 28-36
Author(s):  
С. О. Сіромаха ◽  
Н. І. Волкова ◽  
Н. В. Поворозник ◽  
Ю. В. Давидова ◽  
А. Ю. Лиманська
Keyword(s):  
European Society ◽  
Congenital Heart ◽  
European Society Of Cardiology

Більшість пацієнтів з оперованими в дитинстві або неоперованими вродженими вадами серця (GUCH-пацієнти – grown-up with congenital heart) мають певний ступінь серцевої недостатності, підвищений ризик розвитку інфекційного ендокардиту і синдрому раптової серцевої смерті та часто потребують додаткових втручань на серці. Для жінок, які прагнуть реалізувати свою функцію материнства, Європейським товариством кардіологів (European Society of Cardiology, ESC) розглядається питання медичного супроводу вагітно-сті, пологів і післяпологового періоду. Відповідно до рекомендацій ESC (2011) у 2013 році силами двох академічних інститутів – Національного інституту серцево-судинної хірургії (НІССХ) імені М. М. Амосова та Інституту педіатрії, акушерства і гінекології (ІПАГ) імені академіка О. М. Лук’янової – створено мультидисциплінарну команду спеціалістів, які мають доглядати за GUCH-пацієнтками в період планування вагітності, виношування дитини, під час і після пологів. Також особливу увагу фахівці приділяють стану плода і новонароджених у таких жінок. Метою міжсекторальної співпраці двох академічних закладів є зниження материнської та малюкової захворюваності і смертності, а також профілактика інвалідизації вагітних із серцевою патологією та новонароджених. Матеріали.За даними статистики, у нашій державі на сьогодні зареєстровано приблизно 12 000 жінок із оперованими в дитинстві вродженими вадами серця (ВВС), ще майже стільки ж – з неоперованими ВВС. З моменту створення у травні 2016 року електронного реєстру вагітних з кардіальною патологією станом на лютий 2019 року в консультативній поліклініці НІССХ імені М. М. Амосова НАМН України було проведено експертний кардіоскринінг та стратифікацію кардіоваскулярних ризиків 2363 вагітним. У більшості жінок за уніфікованою оцінкою таких ризиків виявлено клас І та ІІ за модифікованою шкалою Всесвітньої організації охорони здоров’я. Висновки.Мультидисциплінарний супровід GUCH-вагітних і породіль на всіх етапах вагітності, пологів, післяпологового періоду, у тому числі з проведенням планових та екстрених кардіохірургічних втручань, дозволяє значно знизити ризики материнської та малюкової смертності. Екстрені кардіохірургічні втручання на тлі вагітності мають підвищений як материнський, так і фетальний ризик, однак вони значно нижчі за ризик раптової серцевої смерті при настанні великої кардіальної події.

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