Abstract 15632: Phenotypic Overlap Between Left Ventricular Noncompaction and Hypertrophic Cardiomyopathy: A Case Report

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Ethan Senser ◽  
Madison Hawkins ◽  
Eric M Williams ◽  
Lauren Gilstrap
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Mri ◽  
Genetic Diagnosis ◽  
Lateral Wall ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Ventricular Noncompaction ◽  
History Of ◽  
Clinically Significant

Introduction: Left ventricular non-compaction (LVNC) is characterized by extensively trabeculaed myocardium adjacent to normal compacted myocardium of the left ventricle (LV). Hypertrophic cardiomyopathy (HCM) typically appears as diffuse or segmental LV hypertrophy, with or without outflow tract obstruction. Cardiac sarcomere mutations are present in most HCM cases and have also been identified in LVNC. Whether or not there is clinically significant phenotypic overlap between the two diseases is less well understood. We present a case of known HCM that met criteria for both LVNC and HCM by cardiac MRI. Case: A 49-year old man with HCM due to a c.3742_3759dup variant in MYBPC3 presented to clinic after an episode of syncope and ICD firing. In clinic, the device was interrogated and he was found to have had ventricular flutter which was successfully treated with one shock and a new, high (>20%) burden of premature ventricular beats. An echocardiogram showed a stable ejection fraction at 42%, mild concentric LV hypertrophy without obstruction and a newly dilated LV with an end diastolic diameter of 7.1cm (previously 6.2cm). A cardiac MRI was performed ( Figure ) and showed LV noncompaction and diffuse transmural and mid myocardial hyperenhancement/fibrosis of the septum, basilar lateral wall, anterior wall, and distal right ventricle consistent with patient's long-standing history of hypertrophic cardiomyopathy. Discussion: This case highlights the phenotypic overlap between HCM and LVNC by cardiac MRI. Had this patient not already carried a genetic diagnosis of HCM, he would likely have been diagnosed with LVNC based on this cardiac MRI. The phenotypic overlap in these diseases raises questions about ICD guidelines, the role of anticoagulation and prognosis.

Hypertrophic cardiomyopathy

2021 ◽  
pp. 629-644
Author(s):  
Nuno Cardim ◽  
Alexandra Toste ◽  
Robin Nijveldt
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Multimodality Imaging ◽  
Imaging Techniques ◽  
Genetic Diagnosis ◽  
Left Ventricular ◽  
Morphological Data ◽  
Clinical Settings ◽  
Functional Information ◽  
Clinical Questions

Imaging plays a major role in the evaluation of hypertrophic cardiomyopathy (HCM) patients, offering answers to clinical questions. Imaging techniques provide a broad spectrum of information, including morphological data, functional information, and ischaemia assessment, useful in many clinical settings of HCM. The clinical diagnosis of HCM is based on unexplained left ventricular hypertrophy (LVH) by imaging, though the role of genetic diagnosis has increased. A multimodality imaging (MMI) approach is encouraged in HCM. Each technique must be selected to provide solutions to the specific problems, avoiding duplicated data, and taking into account its technical characteristics, availability, benefits, risks, and costs.

scholarly journals An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Danny A. J. P. van de Sande ◽  
Jan Hoogsteen ◽  
Luc J. H. J. Theunissen
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Interventricular Septum ◽  
Positive Family History ◽  
Phenotypic Expression ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Genes Encoding ◽  
History Of ◽  
Basal Septum ◽  
Myocardial Crypts

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR) is used to characterize left ventricular morphology with great precision in patients with HCM and it identifies unique structural abnormalities in patients with HCM. We present a case of a 56-year-old man who had positive family history of HCM who was a carrier of the genetic MYH-7 2770 G > C, exon 23 mutation. Transthoracic echocardiography showed thickening of the interventricular septum (16 mm) and in particular the basal septum. CMR confirmed the diagnosis of HCM in the anteroseptal myocardium with a thickness of 23 mm and also revealed large and deep myocardial crypts in the anterior wall. These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. So in conclusion, this case reveals an uncommon finding of a myocardial crypt at an unusual myocardial site with the unusual morphology in a patient with genotypic and phenotypic expression of hypertrophic cardiomyopathy.

scholarly journals Routine orthostatic LVOT gradient assessment in patients with basal septal hypertrophy and LVOT flow acceleration at rest: please stand up

2019 ◽  
Vol 6 (1) ◽  
pp. K1-K6
Author(s):  
H C Sinclair ◽  
P Russhard ◽  
C H Critoph ◽  
C D Steadman
Keyword(s):  
Cardiac Output ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Cardiac Mri ◽  
Positive Family History ◽  
Left Ventricular ◽  
List Type ◽  
Patient Reported ◽  
Septal Hypertrophy ◽  
History Of

Summary A 70-year-old female with exertional dyspnoea was found to have basal septal hypertrophy (BSH), or a ‘basal septal bulge’, with evidence of mild left ventricular outflow tract obstruction (LVOT) at rest on her initial echocardiogram. She was usually fit and well with no significant past medical history. She had no history of hypertension. She had never smoked. There was no family history of hypertrophic cardiomyopathy (HCM). A cardiac MRI did not demonstrate any typical features of HCM. ECG showed sinus tachycardia with a rate of 101 bpm but was otherwise unremarkable. She was referred for exercise echocardiography to assess for latent LVOT obstruction. Prior to commencing exercise, her LVOT gradient was re-assessed at rest. Her LVOT gradients were 30 mmHg at rest, 49 mmHg during Valsalva and 91 mmHg on standing. A diagnosis of significant latent LVOT obstruction was made and the patient was started on bisoprolol, a cardioselective beta-blocker. Bisoprolol was slowly uptitrated from 1.25 mg to 5 mg once daily, following which the patient reported a significant improvement in her symptoms with an improved exercise capacity. Follow-up echocardiography demonstrated a dramatic reduction in LVOT gradient, with a maximum of 11 mmHg assessed both with Valsalva and on standing. This case is a reminder that patients with a ‘common’ basal septal bulge can develop significant LVOT obstruction, the symptoms of which may respond to pharmacological therapy. Orthostatic assessment of LVOT gradient using echocardiography should be considered during standard LVOT obstruction provocation manoeuvres such as a Valsalva. Learning points: Differentiation between basal septal hypertrophy (BSH) and hypertrophic cardiomyopathy (HCM) may be challenging. Key factors favouring HCM include a positive family history of HCM or sudden cardiac death, septal thickness >15 mm/posterior wall thickness >11 mm, systolic anterior motion of the anterior mitral valve (SAM), late gadolinium enhancement on cardiac MRI, a causative genetic mutation associated with HCM and an abnormal ECG. Significant LVOT obstruction may develop in patients with BSH and is potentially responsive to pharmacotherapy. Standing reduces venous return, resulting in decreased LV volume. Compensatory mechanisms to maintain cardiac output involve sympathetic nervous system activation leading to increased LV contractility and subsequent increased LVOT gradient. Significant LVOT obstruction may be unmasked by an orthostatic posture. Orthostatic LVOT gradient assessment should be part of the routine echocardiographic assessment of all patients with an increased LVOT gradient at rest. The post-prandial state has been associated with increased LVOT gradient due to splanchnic dilatation and the consequent increased cardiac output required to maintain blood pressure. Post-prandial status should therefore be considered when assessing LVOT gradient.

Myocardial Noncompaction

2018 ◽  
Vol 69 (8) ◽  
pp. 2209-2212
Author(s):  
Alexandru Radu Mihailovici ◽  
Vlad Padureanu ◽  
Carmen Valeria Albu ◽  
Venera Cristina Dinescu ◽  
Mihai Cristian Pirlog ◽  
...  
Keyword(s):  
Ventricular Arrhythmias ◽  
Specific Treatment ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Genetic Transmission ◽  
Asymptomatic Patients ◽  
Increased Risk ◽  
Patients With Heart Failure

Left ventricular noncompaction is a primary cardiomyopathy with genetic transmission in the vast majority of autosomal dominant cases. It is characterized by the presence of excessive myocardial trabecularities that generally affect the left ventricle. In diagnosing this condition, echocardiography is the gold standard, although this method involves an increased risk of overdiagnosis and underdiagnosis. There are also uncertain cases where echocardiography is inconclusive, a multimodal approach is needed, correlating echocardiographic results with those obtained by magnetic resonance imaging. The clinical picture may range from asymptomatic patients to patients with heart failure, supraventricular or ventricular arrhythmias, thromboembolic events and even sudden cardiac death. There is no specific treatment of left ventricular noncompaction, but the treatment is aimed at preventing and treating the complications of the disease. We will present the case of a young patient with left ventricular noncompactioncardiomyopathy and highlight the essential role of transthoracic echocardiography in diagnosing this rare heart disease.

scholarly journals Role of deformation imaging in left ventricular non-compaction and hypertrophic cardiomyopathy: an Indian perspective

2020 ◽  
Vol 72 (1) ◽  
Author(s):  
A. J. Ashwal ◽  
Sudhakar Rao Mugula ◽  
Jyothi Samanth ◽  
Ganesh Paramasivam ◽  
Krishnananda Nayak ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Left Ventricular ◽  
Deformation Imaging ◽  
Indian Perspective

Left ventricular apical mass after myocardial infarction—not always a thrombus: a diagnostic dilemma

2021 ◽  
Vol 14 (10) ◽  
pp. e245963
Author(s):  
Jayanty Venkata Balasubramaniyan ◽  
Judah Nijas Arul ◽  
Jebaraj Rathinasamy ◽  
Thangavel Periyasamy
Keyword(s):  
Myocardial Infarction ◽  
Systolic Dysfunction ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Prior History ◽  
Surgical Removal ◽  
Diagnostic Dilemma ◽  
Echocardiographic Evaluation ◽  
Lv Mass ◽  
History Of

Myxomas arising from the left ventricle (LV) are extremely rare and can be easily mistaken for a thrombus. We report a case of a 35-year-old man who presented with an acute cerebrovascular accident, having had a prior history of an anterior wall myocardial infarction 2 years back with an echocardiographic evaluation showing mild LV systolic dysfunction. His present prothrombotic workup revealed hyperhomocystinaemia and elevated levels of factor VIII. Present echocardiography revealed a mass arising from a scarred LV wall. Considering the possibility of a thrombus, he was initially started on parenteral anticoagulation. Unfortunately, consequent echocardiogram evaluation showed no reduction in size of the LV mass hence surgical removal was done. Histopathological evaluation unveiled the mass to be a myxoma.

scholarly journals Is there a link between glucose levels and heart failure? An update

2010 ◽  
Vol 54 (5) ◽  
pp. 488-497 ◽  
Author(s):  
Arnaldo Schainberg ◽  
Antônio Ribeiro-Oliveira Jr. ◽  
José Marcio Ribeiro
Keyword(s):  
Risk Factors ◽  
Heart Failure ◽  
Epidemiological Studies ◽  
Left Ventricular ◽  
Glucose Levels ◽  
Factors Analysis ◽  
History Of ◽  
Cv Disease ◽  
The Relationship

It has been well documented that there is an increased prevalence of standard cardiovascular (CV) risk factors in association with diabetes and with diabetes-related abnormalities. Hyperglycemia, in particular, also plays an important role. Heart failure (HF) has become a frequent manifestation of cardiovascular disease (CVD) among individuals with diabetes mellitus. Epidemiological studies suggest that the effect of hyperglycemia on HF risk is independent of other known risk factors. Analysis of datasets from populations including individuals with dysglycemia suggests the pathogenic role of hyperglycemia on left ventricular function and on the natural history of HF. Despite substantial epidemiological evidence of the relationship between diabetes and HF, data from available interventional trials assessing the effect of a glucose-lowering strategy on CV outcomes are limited. To provide some insight into these issues, we describe in this review the recent important data to understand the natural course of CV disease in diabetic individuals and the role of hyperglycemia at different times in the progression of HF.

Supplementary role of left ventricular global longitudinal strain for predicting sudden cardiac death in hypertrophic cardiomyopathy

2021 ◽  
Author(s):  
Hyun-Jung Lee ◽  
Hyung-Kwan Kim ◽  
Sang Chol Lee ◽  
Jihoon Kim ◽  
Jun-Bean Park ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Risk Score ◽  
Primary Endpoint ◽  
Cardiac Death ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
C Statistic

Abstract Aims We investigated the prognostic role of left ventricular global longitudinal strain (LV-GLS) and its incremental value to established risk models for predicting sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). Methods and results LV-GLS was measured with vendor-independent software at a core laboratory in a cohort of 835 patients with HCM (aged 56.3 ± 12.2 years) followed-up for a median of 6.4 years. The primary endpoint was SCD events, including appropriate defibrillator therapy, within 5 years after the initial evaluation. The secondary endpoint was a composite of SCD events, heart failure admission, heart transplantation, and all-cause mortality. Twenty (2.4%) and 85 (10.2%) patients experienced the primary and secondary endpoints, respectively. Lower absolute LV-GLS quartiles, especially those worse than the median (−15.0%), were associated with progressively higher SCD event rates (P = 0.004). LV-GLS was associated with an increased risk for the primary endpoint, independent of the LV ejection fraction, apical aneurysm, and 2014 European Society of Cardiology (ESC) risk score [adjusted hazard ratio (aHR) 1.14, 95% confidence interval (CI) 1.02–1.28] or 2011 American College of Cardiology/American Heart Association (ACC/AHA) risk factors (aHR 1.18, 95% CI 1.05–1.32). LV-GLS was also associated with a higher risk for the composite secondary endpoint (aHR 1.06, 95% CI 1.01–1.12). The addition of LV-GLS enhanced the performance of the ESC risk score (C-statistic 0.756 vs. 0.842, P = 0.007) and the 2011 ACC/AHA risk factor strategy (C-statistic 0.743 vs. 0.814, P = 0.007) for predicting SCD. Conclusion LV-GLS is an important prognosticator in patients with HCM and provides additional information to established risk stratification strategies for predicting SCD.

Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis

2007 ◽  
Vol 112 (11) ◽  
pp. 577-582 ◽  
Author(s):  
Tetsuo Konno ◽  
Noboru Fujino ◽  
Kenshi Hayashi ◽  
Katsuharu Uchiyama ◽  
Eiichi Masuta ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Diagnostic Value ◽  
Left Ventricular ◽  
Lower Sensitivity ◽  
T Wave ◽  
Accurate Definition ◽  
Definition Of ◽  
T Waves

Differences in the diagnostic value of a variety of definitions of negative T waves for HCM (hypertrophic cardiomyopathy) have not yet been clarified, resulting in a number of definitions being applied in previous studies. The aim of the present study was to determine the most accurate diagnostic definition of negative T waves for HCM in genotyped populations. Electrocardiographic and echocardiographic findings were analysed in 161 genotyped subjects (97 carriers and 64 non-carriers). We applied three different criteria that have been used in previous studies: Criterion 1, negative T wave >10 mm in depth in any leads; Criterion 2, negative T wave >3 mm in depth in at least two leads; and Criterion 3, negative T wave >1 mm in depth in at least two leads. Of the three criteria, Criterion 3 had the highest sensitivity (43% compared with 5 and 26% in Criterion 1 and Criterion 2 respectively; P<0.0001) and retained a specificity of 95%, resulting in the highest accuracy. In comparison with abnormal Q waves, negative T waves for Criterion 3 had a lower sensitivity in detecting carriers without LVH (left ventricular hypertrophy) (12.9% for negative T waves compared with 22.6% for abnormal Q waves). On the other hand, in detecting carriers with LVH, the sensitivity of negative T waves increased in a stepwise direction with the increasing extent of LVH (P<0.001), whereas there was less association between the sensitivity of abnormal Q waves and the extent of LVH. In conclusion, Criterion 3 for negative T waves may be the most accurate definition of HCM based on genetic diagnoses. Negative T waves may show different diagnostic value according to the different criteria and phenotypes in genotyped populations with HCM.

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