The high risk of life-threatening arrhythmias in patients with ARVC spans from adolescence to advanced age, reaching its peak between ages 21 and 40 years. Atrial fibrillation, syncope, participation in strenuous exercise after the diagnosis of ARVC, hemodynamically tolerated sustained monomorphic ventricular tachycardia, and male sex predicted lethal arrhythmias at follow-up. The lack of efficacy of antiarrhythmic therapy and the life-saving role of the implantable cardioverter-defibrillator highlight the importance of risk stratification for patient management.
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not explained by abnormal loading conditions or coronary artery disease. The clinical presentation can vary from asymptomatic to heart failure symptoms or sudden cardiac death (SCD) even in previously asymptomatic individuals. In the last 2 decades, there has been striking progress in the understanding of the complex genetic basis of DCM, with the discovery of additional genes and genotype-phenotype correlation studies. Rigorous clinical work-up of DCM patients, meticulous family screening, and the implementation of advanced imaging techniques pave the way for a more efficient and earlier diagnosis as well as more precise indications for implantable cardioverter defibrillator implantation and prevention of SCD. In the era of precision medicine, genotype-directed therapies have started to emerge. In this review, we focus on updates of the genetic background of DCM, characteristic phenotypes caused by recently described pathogenic variants, specific indications for prevention of SCD in those individuals and genotype-directed treatments under development. Finally, the latest developments in distinguishing athletic heart syndrome from subclinical DCM are described.
A 70-year-old woman with known history of hypertension presented because of a syncopal episode during dinner at a wedding party, followed by chest pain. On physical examination a systolic murmur was noted, and her electrocardiogram showed ST segment elevation in anterior leads. She had elevated troponin levels while echocardiography showed a hypertrophic interventricular septum with dyskinetic apex and left ventricular outflow (LVOT) obstruction. Emergency coronary angiography excluded obstructive coronary artery disease and confirmed the presence of LVOT obstruction with a gradient of 90 mm Hg. A left ventriculography showed hypercontractility of the basal and mid segments with apical wall dyskinesia indicating Takotsubo cardiomyopathy. Patient was discharged after 6 days of hospitalization with normalization of left ventricular function and regression of the LVOT obstruction. This is an interesting case of Takotsubo cardiomyopathy complicated with severe LVOT obstruction in a patient with hypertensive heart disease and a sigmoid septum hypertrophy.
Funding Acknowledgements Type of funding sources: None. Introduction Evidence shows that atrial dysfunction and stunning occur, after successful cardioversion from persistent atrial fibrillation (AF) to sinus rhythm (SR). Electrical and mechanical recovery of the left atrium (LA), do not seem to coincide. Traditional Doppler parameters show reduced atrial contractility immediately after cardioversion, while mechanical improvement in atrial function mainly occurs within the first 4 weeks after sinus rhythm restoration. Purpose This study aimed to determine whether automated left atrial strain (auto-LA strain) could be used to measure global LA function and the time required for mechanical improvement to be seen in LA after cardioversion. Methods Auto-LA strain was measured via transthoracic echocardiography in 20 patients with persistent AF who had been cardioverted to SR and followed up for 3 months, and in a cohort of 20 healthy individuals. Conventional measures of atrial function derived from transmitral pulsed Doppler and tissue Doppler imaging of lateral mitral annulus were included, such as transmitral A wave velocity, A wave velocity-time integral, atrial fraction, A" wave velocity, and A" velocity-time integral. Results Immediately after cardioversion auto-LA strain was significantly lower than in control subjects. Atrial function improved over time with maximal change observed at 1 month after cardioversion. Doppler tissue imaging parameters were also normalised after 1 month of restoration to SR. Despite this initial improvement in LA function, the values of auto-LA strain remained stable for the following 3 months. Conclusion Although the electrical function of LA is immediately restored after successful cardioversion in AF patients, there remains a persistent degree of atrial dysfunction for at least 3 months. This difference could explain the increased propensity for these patients to develop recurrent atrial fibrillation. Additionally, this dysfunction could indicate longer-term use of anti-arrhythmic and antithrombotic medications in the AF cohort. Abstract Figure.
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