Non-compaction cardiomyopathy, Becker muscular dystrophy, neuropathy and recurrent syncope

We present the case of a 50-year-old man presenting with new heart failure symptoms. He had no evidence of any ischaemic cardiomyopathy, however, further cardiac imaging showed a left ventricular non-compaction cardiomyopathy. He was noted to have muscular weakness and an exhaustive search for associated comorbidities yielded a diagnosis of Becker muscular dystrophy. In this report, we review the pathophysiology, comorbidities and diagnostic workup in patients presenting with left ventricular non-compaction in the context of dystrophinopathy. Ultimately, we suggest the consideration of rare cardiomyopathies in all patients presenting with neuromuscular syndromes and vice versa.

Download Full-text

Cardiac tamponade from anticoagulant-related spontaneous haemopericardium in a patient with ischaemic cardiomyopathy and heart failure

BMJ Case Reports ◽

10.1136/bcr-2020-238047 ◽

2020 ◽

Vol 13 (12) ◽

pp. e238047

Author(s):

Alicia Lefas ◽

Neil Bodagh ◽

Jiliu Pan ◽

Ali Vazir

Keyword(s):

Heart Failure ◽

Cardiac Tamponade ◽

Ventricular Dysfunction ◽

Oral Anticoagulants ◽

Direct Oral Anticoagulants ◽

Left Ventricular ◽

Heart Failure Therapy ◽

Severe Left Ventricular Dysfunction ◽

Ischaemic Cardiomyopathy ◽

Common Causes

We describe the case of an 86-year-old man with a background of severe left ventricular dysfunction and ischaemic cardiomyopathy who, having been optimised for heart failure therapy in hospital, unexpectedly deteriorated again with hypotension and progressive renal failure over the course of 2 days. Common causes of decompensation were ruled out and a bedside echocardiogram unexpectedly diagnosed new pericardial effusion with tamponade physiology. The patient underwent urgent pericardiocentesis and 890 mL of haemorrhagic fluid was drained. Common causes for haemopericardium were ruled out, and the spontaneous haemopericardium was thought to be related to introduction of rivaroxaban anticoagulation. The patient made a full recovery and was well 2 months following discharge. This case highlights the challenges of diagnosing cardiac tamponade in the presence of more common disorders that share similar non-specific clinical features. In addition, this case adds to growing evidence that therapy with direct oral anticoagulants can be complicated by spontaneous haemopericardium, especially when coadministered with other agents that affect clotting, renal dysfunction and cytochrome P3A5 inhibitors.

Download Full-text

Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy — Prospective multicenter cohort study

International Journal of Cardiology ◽

10.1016/j.ijcard.2012.12.058 ◽

2013 ◽

Vol 168 (3) ◽

pp. 1900-1904 ◽

Cited By ~ 34

Author(s):

Koichi Kimura ◽

Katsu Takenaka ◽

Aya Ebihara ◽

Kansei Uno ◽

Hiroyuki Morita ◽

...

Keyword(s):

Cohort Study ◽

Muscular Dystrophy ◽

Becker Muscular Dystrophy ◽

Left Ventricular ◽

Prognostic Impact ◽

Left Ventricular Noncompaction ◽

Multicenter Cohort Study ◽

Ventricular Noncompaction ◽

Multicenter Cohort

Download Full-text

Abstract 468: Previously Unrecognized Intronic Variants in the Dystrophin Gene Identified as Possible Contributors to Dilated Cardiomyopathy

Circulation Research ◽

10.1161/res.127.suppl_1.468 ◽

2020 ◽

Vol 127 (Suppl_1) ◽

Author(s):

Alex Gyftopoulos ◽

Tamara Ashvetiya ◽

Yi-Ju Chen ◽

Libin Wang ◽

Charles H Williams ◽

...

Keyword(s):

Heart Failure ◽

Muscular Dystrophy ◽

Dilated Cardiomyopathy ◽

Allele Frequency ◽

Minor Allele Frequency ◽

Mixed Model ◽

Dystrophin Gene ◽

Becker Muscular Dystrophy ◽

Minor Allele ◽

Intronic Variants

Nonischemic dilated cardiomyopathy (DCM) often has a genetic etiology, however, its prevalence and etiologies are not completely understood. The UK Biobank comprises clinical and genetic data for greater than 500,000 individuals with enrollees 40-69 years of age. Our group created a custom phenotype of heart failure using ICD-10 codes for several subtypes of heart failure diagnoses including DCM. We then compared the individuals included in the custom heart failure phenotype to control individuals in a 20-to-1 fashion to identify genetic differences. Data were compared using Mixed Model Analysis for Pedigrees/Populations (MMAP) mixed-model regression. We identified 8 unlinked intronic variants in the dystrophin gene ( DMD ) that, when separated by self-identified race, occurred with a combined minor allele frequency of 0.15 in individuals with heart failure who identified as being of African descent. The combined minor allele frequency of these variants was 0.05 in individuals who self-identified as being of European descent. One variant of DMD in particular (rs139029250), was identified with a minor allele frequency of 0.05 in African British with DCM. The unadjusted odds ratio of a diagnosis of heart failure in individuals with rs129029250 was 4.65. When separated by gender, the unadjusted odds ratios are 2.02 for females and 6.44 for males. DMD is most notably known for its role in Duchenne and Becker muscular dystrophy, both of which are known to cause dilated cardiomyopathy in affected individuals. However, none of the individuals (36 female and 43 male) identified in our analysis with rs129029250 have been diagnosed with Duchenne muscular dystrophy, Becker muscular dystrophy, or a primary disorder of muscle (ICD code G70). Additionally, these individuals have an intronic variant of DMD , while Duchene and Becker muscular dystrophy are both due to exonic mutations. These findings suggest a possible common variant in the DMD gene that may contribute to DCM in individuals of African descent.

Download Full-text

ASB1 differential methylation in ischaemic cardiomyopathy: relationship with left ventricular performance in end-stage heart failure patients

ESC Heart Failure ◽

10.1002/ehf2.12289 ◽

2018 ◽

Vol 5 (4) ◽

pp. 732-737 ◽

Cited By ~ 1

Author(s):

Ana Ortega ◽

Estefanía Tarazón ◽

Carolina Gil-Cayuela ◽

Luis Martínez-Dolz ◽

Francisca Lago ◽

...

Keyword(s):

Heart Failure ◽

Left Ventricular ◽

Differential Methylation ◽

Left Ventricular Performance ◽

Ventricular Performance ◽

Heart Failure Patients ◽

Ischaemic Cardiomyopathy ◽

End Stage Heart Failure ◽

End Stage

Download Full-text

Heart failure in dilated non-ischaemic cardiomyopathy

European Heart Journal Supplements ◽

10.1093/eurheartj/suz212 ◽

2019 ◽

Vol 21 (Supplement_M) ◽

pp. M40-M43 ◽

Cited By ~ 1

Author(s):

Petar M Seferović ◽

Marija M Polovina ◽

Andrew J S Coats

Keyword(s):

Heart Failure ◽

Alcohol Intoxication ◽

Systolic Dysfunction ◽

Clinical Status ◽

Significant Coronary Artery Disease ◽

Left Ventricular ◽

Circulatory Support ◽

Specific Information ◽

Ischaemic Cardiomyopathy ◽

System Disease

Abstract Heart failure (HF) is the prevailing cause of morbidity and mortality in patients with dilated non-ischaemic cardiomyopathy (DCM) and DCM is one of several causes of HF, with several distinct epidemiological and clinical features which may have important implications for its management and prognosis. This article reviews cardiovascular monitoring of specific characteristics of HF in DCM. DCM is defined as ventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions or significant coronary artery disease, the predominant phenotypes of being HFmrEF or HFrEF. DCM accounts for ∼40% of all cardiomyopathies but its true prevalence among patients with HFrEF is difficult to ascertain with certainty. Compared with patients with other HF aetiologies, individuals with DCM tend to be younger, more likely male and less likely to have associated comorbidities. A genetic aetiology of DCM is deemed responsible for ∼40% of cases. Confirmation of a specific genetic background is clinically relevant (e.g. Duchene or Backer muscular dystrophies, lamin A/C mutation), because those patients may be at a high risk of progressive left ventricular dysfunction or conduction system disease and sudden death, prompting early prophylaxis with an implantable cardioverter defibrillator. However, in most instances, HF in DCM has a multifactorial aetiology, with multiple factors needing to be systematically evaluated and/or monitored, since correction of reversible causes or (e.g. tachycardia-induced cardiomyopathy, alcohol intoxication, iron-overload, cancer therapies etc.) or targeting specific pathophysiological causes could lead to an improvement in clinical status. The treatment of DCM encompasses HF-related pharmacological and device therapies, and aetiology-specific treatments. At present, options for aetiology-related therapies are limited, and their effectiveness mostly requires confirmation from larger scale randomized trials. Whether outcomes of patients with HF in DCM differ from those with other HF aetiologies is unresolved. DCM is attributable for >40% of patients receiving mechanical circulatory support for advanced HF and it is the leading indication for heart transplantation. More aetiology-specific information is needed both in the evaluation and treatment of dilated cardiomyopathy.

Download Full-text

Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging

European Heart Journal - Cardiovascular Imaging ◽

10.1093/ehjci/jey209 ◽

2018 ◽

Vol 20 (8) ◽

pp. 906-915 ◽

Cited By ~ 5

Author(s):

Benjamin Marty ◽

Raymond Gilles ◽

Marcel Toussaint ◽

Anthony Béhin ◽

Tanya Stojkovic ◽

...

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Muscular Dystrophy ◽

Comprehensive Evaluation ◽

Becker Muscular Dystrophy ◽

Left Ventricular ◽

Left Ventricular Ejection ◽

Functional Impairments ◽

Ventricular Ejection Fraction ◽

Native T1

Abstract Aims Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein. Myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. We performed a comprehensive evaluation of myocardial functional and structural alterations encountered in a large cohort of BMD patients using quantitative cardiac magnetic resonance (CMR) imaging. Methods and results Eighty-eight BMD patients and 26 age-matched volunteers underwent standard cine and tag imaging to assess myocardial function and dyssynchrony, while native T1, T2, and extracellular volume fraction (ECV) were measured for tissue characterization. The left ventricular ejection fraction (LV-EF) was significantly reduced in 26% of the BMD patients. Patients exhibited higher dyssynchrony index than controls (6.94 ± 3.17 vs. 5.09 ± 1.25, P = 0.005). Diastolic dyssynchrony also exists in patients where systolic function was normal. BMD subjects, compared with controls, had significantly higher native T1, T2, and ECV (1183 ± 60 ms vs. 1164 ± 22 ms, 47.5 ± 4.5 ms vs. 45.6 ± 3.4 ms, 0.282 ± 0.050 vs. 0.231 ± 0.027, respectively, P < 0.05). Native T1, T2, and ECV correlated with LV-EF (R = −0.79, −0.70, and −0.71, respectively, P < 0.001) and N-terminal-pro brain natriuretic peptide (R = 0.51, 0.58, and 0.44, respectively, P < 0.001). Conclusion Quantitative CMR represents a powerful tool to evaluate structural and functional impairments in the myocardium of BMD subjects. Native T1, T2, and ECV provided quantitative biomarkers related to inflammation and fibrosis, and could stratify disease severity.

Download Full-text

P2768Post-PE impairment is mostly related to newly diagnosed heart failure with preserved ejection fraction

European Heart Journal ◽

10.1093/eurheartj/ehz748.1085 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

O Dzikowska-Diduch ◽

M Kostrubiec ◽

K Brodka ◽

A Wyzgal-Chojecka ◽

S Pacho ◽

...

Keyword(s):

Heart Failure ◽

Ejection Fraction ◽

Pulmonary Disease ◽

Exercise Tolerance ◽

Functional Limitation ◽

Left Ventricular Diastolic Dysfunction ◽

Left Ventricular ◽

Diagnostic Workup ◽

Reduced Ejection Fraction ◽

Ventricular Diastolic Dysfunction

Abstract Introduction Recently, the concept of post-PE impairment (PPEI) was proposed which includes various combinations of functional, haemodynamic or imaging abnormalities in patients after acute pulmonary embolism (PE). Chronic residual obstruction of pulmonary vascular bed, despite adequate anticoagulation, is suggested to be a major cause of PPEI. Material and methods We report data of consecutive 700 PE survivors (390 F, aged 62±18 yrs). In all patients PE was diagnosed and treated according to ESC recommendations. Patients were anticoagulated and followed for at least 6 months in outpatient clinic (median 6, 6–18 months). All symptomatic subjects underwent detailed diagnostic workup which included standardized echocardiography, lung scintigraphy, pulmonary functional tests, and chest CT, RHC and coronary angiography when appropriate. Results 207/700 (29,6%) of PE survivors completely recovered functionally. However, when compared to prePEperiod 493/700 (70,4%) patients reported functional limitation compatible with PPEI. Exertional dyspnoea was present in 36,5% of symptomatic patients, then 25,5% others presented effort angina with or without dyspnoea, 11% of symptomatic patients reported palpitations and 27% complained of reduced exercise tolerance. After diagnostic workup, CTEPH was diagnosed in 38 of 493 (7,7%) symptomatic subjects (5,4% of all survivors) and chronic thromboembolic pulmonary disease (CTED) in 12/493 (2,4%) of them. 52,9% pts have chronic heart failure with reduced ejection fraction (EF) 4,2% and 37,2% with preserved EF; valve heart disease was detected in 8,9% and significant arrhythmia, mostly atrial fibrillation, in 2,6%. Breathlessness and reduce exercise tolerance in the others were caused by coronary artery diseases or non-cardiovascular pathologies (e.g. anaemia, pulmonary disease). Conclusions Follow-up demonstrated that after an episode of PE, approximately 70% of patients report functional impairment. Although persistent pulmonary artery thromboemobli resulting in CTEPH or CTED were detected in 7,1% of PE survivors and 10% of symptomatic patients. Left ventricular diastolic dysfunction is the most common cause of PPEI.

Download Full-text