Heart Failure: From Protein to Phenotype37MicroRNA-494 reduces ATF3 expression and promotes heart failure in cardiac hypertrophic remodeling in vivo38A novel recessive plakophilin-2 gene mutation causes severe arrhythmogenic dilated cardiomyopathy and sudden cardiac death at young age39Investigation of titin expression in explanted hearts with familial dilated cardiomyopathy and TTN truncating variants

Heart failure implies a considerable burden for patients and resources for the health care system. Dilated cardiomyopathy is defined as left ventricular dilation and reduced systolic function, not solely explained by ischemic heart disease or abnormal loading conditions. Numerous genes have been identified in familial cases of dilated cardiomyopathy. Heart failure with reduced ejection fraction increases the risk for sudden cardiac death. Implantable cardioverter defibrillator therapy can provide a means of preventing sudden cardiac death in those deemed to be at high risk. Health care providers are in need of better tools in order to improve risk stratification. This chapter aims to provide an overview of the current knowledge about risk of arrhythmia and sudden death in patients with familial dilated cardiomyopathy, in particular for those patients with a specific mutation.

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Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive relatives: CVON eDETECT consortium

Netherlands Heart Journal ◽

10.1007/s12471-021-01542-1 ◽

2021 ◽

Author(s):

R. W. Roudijk ◽

K. Taha ◽

M. Bourfiss ◽

P. Loh ◽

L. van den Heuvel ◽

...

Keyword(s):

Heart Failure ◽

Sudden Cardiac Death ◽

Early Detection ◽

Risk Stratification ◽

Dilated Cardiomyopathy ◽

Cardiac Death ◽

Diagnostic Techniques ◽

Arrhythmogenic Cardiomyopathy ◽

Early Detection Of Disease ◽

Non Invasive

AbstractIn relatives of index patients with dilated cardiomyopathy and arrhythmogenic cardiomyopathy, early detection of disease onset is essential to prevent sudden cardiac death and facilitate early treatment of heart failure. However, the optimal screening interval and combination of diagnostic techniques are unknown. The clinical course of disease in index patients and their relatives is variable due to incomplete and age-dependent penetrance. Several biomarkers, electrocardiographic and imaging (echocardiographic deformation imaging and cardiac magnetic resonance imaging) techniques are promising non-invasive methods for detection of subclinical cardiomyopathy. However, these techniques need optimisation and integration into clinical practice. Furthermore, determining the optimal interval and intensity of cascade screening may require a personalised approach. To address this, the CVON-eDETECT (early detection of disease in cardiomyopathy mutation carriers) consortium aims to integrate electronic health record data from long-term follow-up, diagnostic data sets, tissue and plasma samples in a multidisciplinary biobank environment to provide personalised risk stratification for heart failure and sudden cardiac death. Adequate risk stratification may lead to personalised screening, treatment and optimal timing of implantable cardioverter defibrillator implantation. In this article, we describe non-invasive diagnostic techniques used for detection of subclinical disease in relatives of index patients with dilated cardiomyopathy and arrhythmogenic cardiomyopathy.

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P994Association of late gadolinium enhancement with prognosis and sudden cardiac death risk in non-ischemic dilated cardiomyopathy

European Heart Journal ◽

10.1093/eurheartj/ehz747.0587 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

I Rodriguez Sanchez ◽

J J Onaindia ◽

S Velasco ◽

U Aguirre ◽

A Capelastegui ◽

...

Keyword(s):

Heart Failure ◽

Late Gadolinium Enhancement ◽

Sudden Cardiac Death ◽

Dilated Cardiomyopathy ◽

Cardiovascular Mortality ◽

Cardiac Death ◽

Composite Endpoint ◽

Heart Failure Hospitalization ◽

Gadolinium Enhancement ◽

Non Ischemic Dilated Cardiomyopathy

Abstract Objectives to evaluate the association between late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (cMRI) and prognosis in patients with non-ischemic dilated cardiomyopathy (NIDM). Background Risk stratification in NIDM needs to be improved. Methods A total of 210 patients with NIDM and cMRI from 2005 to 2018 were included in our population. Outcomes were retrospectively assessed by medical records. The pattern of LGE was classified as midwall, subepicardial, or both patterns. Primary endpoint was sudden cardiac death (SCD) and aborted SCD. Secondary endpoints were global mortality and a composite endpoint of cardiovascular mortality and heart failure hospitalization. Demographic and clinical parameters were also evaluated. Patients with LGE (LGE+) were more likely to be male (80,6% vs 66,7%, p=0,03). No significant differences were observed between LGE+ and LGE− patients in comorbidities, NYHA class, left ventricular ejection fraction (LVEF), left bundle branch block or neurohormonal treatment. Results Of 210 patients (71,4% men, median age 59,8 years) with a median follow up of 5,6 years (3,24–8,15), 72 patients (34,3%) had non ischemic LGE (LGE+). Mean LVEF was 34%. SCD or aborted SCD occurred in 11 patients (5,2%). 6 patients (9,5%) with LGE+ reached the primary endpoint vs 5 (4,07%) of LGE− patients (p=0,19). The adjusted OR for the presence of LGE in the composite endpoint (cardiovascular mortality and heart failure hospitalization) was 2,45, confidence interval (CI): 1,16–5,17, (p=0,02). LGE presence was not associated with global mortality. The subepicardial pattern of LGE was associated with SCD and aborted SCD: 3 out of 11 patients (27, 1%) with subepicardial pattern of LGE suffered from SCD or aborted SCD (p=0,02). Conclusions In our cohort of 210 patients with NIDM, LGE presence was not associated with SCD and aborted SCD, probably because of low event rate in a relatively small population. However, LGE presence was associated with the composite endpoint of cardiovascular mortality and heart failure hospitalization. The subepicardial pattern of LGE identified patients at high risk of SCD and aborted SCD.

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A Novel Mutation in Lamin A/C Causing Familial Dilated Cardiomyopathy Associated With Sudden Cardiac Death

Journal of Cardiac Failure ◽

10.1016/j.cardfail.2014.12.003 ◽

2015 ◽

Vol 21 (3) ◽

pp. 217-225 ◽

Cited By ~ 16

Author(s):

Alexandra Pérez-Serra ◽

Rocío Toro ◽

Oscar Campuzano ◽

Georgia Sarquella-Brugada ◽

Paola Berne ◽

...

Keyword(s):

Sudden Cardiac Death ◽

Dilated Cardiomyopathy ◽

Cardiac Death ◽

Novel Mutation ◽

Lamin A ◽

Familial Dilated Cardiomyopathy

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Cardiomyopathy Associated With Tertiary Adrenal Insufficiency Manifesting as Refractory Heart Failure, Shock, and Sudden Cardiac Death: A Case Report

Frontiers in Cardiovascular Medicine ◽

10.3389/fcvm.2021.720154 ◽

2021 ◽

Vol 8 ◽

Author(s):

Xuefeng Wang ◽

Yong Luo ◽

Jian Feng

Keyword(s):

Heart Failure ◽

Sudden Cardiac Death ◽

Dilated Cardiomyopathy ◽

Adrenal Insufficiency ◽

Cardiac Death ◽

Clinical Manifestations ◽

Underlying Disease ◽

Pituitary Hormones ◽

Idiopathic Dilated Cardiomyopathy ◽

Cardiac Resynchronization

Dilated cardiomyopathy is an etiologically heterogeneous disorder. Early diagnosis and prompt treatment of the underlying disease are of great significance. Primary and secondary adrenal insufficiency are considered quite rare causes of dilated cardiomyopathy. However, to the best of our knowledge, no case of cardiomyopathy associated with tertiary adrenal insufficiency has been reported. Herein, we described a 68-year-old woman with a 15-year history of seasonal dermatitis presented with frequent heart failure and shock. At first, she was diagnosed with idiopathic dilated cardiomyopathy, but standard heart failure and antishock treatment failed. Given her long-term use of dexamethasone for treating seasonal dermatitis, and clinical manifestations consistent with adrenal insufficiency, we tested her basal plasma cortisol, simultaneous corticotropin, and other pituitary hormones, confirming that she had tertiary adrenal insufficiency. Additionally, abdominal enhanced computed tomography revealed atrophic bilateral adrenal glands, indicating long-standing and severe adrenal insufficiency. Then hydrocortisone replacement therapy was initiated, and she recovered rapidly. During the next 2 years of follow-up, she never experienced any episodes of heart failure and shock. Unfortunately, she refused the implantation of defibrillator with cardiac resynchronization therapy (CRT-D) and died of sudden cardiac death 2 years later. Although we could not exclude the coincidence of idiopathic dilated cardiomyopathy with tertiary adrenal insufficiency with 100% certainty, her unique clinical course strongly indicated that her cardiomyopathy resulted from tertiary adrenal insufficiency. This case demonstrates that patients on corticosteroids are at risk for tertiary adrenal insufficiency, which may result in refractory cardiomyopathy and even sudden cardiac death.

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Risk stratification for sudden cardiac death in dilated cardiomyopathy

ESC CardioMed ◽

10.1093/med/9780198784906.003.0546 ◽

2018 ◽

pp. 2313-2316

Author(s):

Borislav Dinov

Keyword(s):

Heart Failure ◽

Congestive Heart Failure ◽

Sudden Cardiac Death ◽

Dilated Cardiomyopathy ◽

Cardiac Death ◽

Pulseless Electrical Activity ◽

Advanced Heart Failure ◽

Cardioverter Defibrillator ◽

Cardiac Enlargement ◽

Burden Of Costs

The current understanding recognizes dilated cardiomyopathy as a condition defined by cardiac enlargement that manifests clinically with symptoms of congestive heart failure. However, sudden cardiac death (SCD) can be the first clinical manifestation of the disease as well, although the main cause of death remains advanced heart failure. In patients with dilated cardiomyopathy, implantation of an implantable cardioverter defibrillator (ICD) reduced the mortality rate by approximately 30%, indicating that ventricular tachycardia and ventricular fibrillation are important causes of death. However, severe bradycardia or pulseless electrical activity can contribute as a cause of SCD as well. Since ICDs are highly efficacious in the prevention of SCD, identifying patients at highest risk of SCD is crucial for saving life, reducing associated complications, and reducing the burden of costs. However, registry data showed that the majority of sudden deaths occur in patients who do not fulfil the criteria for primary prevention with an ICD.

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