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.

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.

scholarly journals P881 Young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart or hypertrophic cardiomyopathy?

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
M Gawor ◽  
M Franaszczyk ◽  
E Kowalik ◽  
M Spiewak ◽  
I Michalowska ◽  
...  
Keyword(s):  
Chest Pain ◽  
Hypertrophic Cardiomyopathy ◽  
Aortic Dissection ◽  
Troponin T ◽  
Global Longitudinal Strain ◽  
Interventricular Septum ◽  
Positive Family History ◽  
Left Ventricular ◽  
Jugular Veins ◽  
Rare Differential Diagnosis

Abstract A 36-year-old male with positive family history of sudden cardiac death (his uncle"s son died suddenly at the age of 25), hospitalized a month ago in a local hospital due to acute hypertensive cardiogenic pulmonary edema, was referred to our institution for further evaluation with suspicion of hypertrophic cardiomyopathy. On admission patient was asymptomatic, without fatigue, exertional dyspnoea, chest pain or syncope. On physical examination his BP was significantly elevated (180/100 mmHg). The lungs were clear on auscultation, liver was not enlarged, jugular veins were normal, there was no oedema of lower extremities. Abdominal auscultation revealed vascular murmur in umbilical region. The baseline level of NT-proBNP was 811.4 (range 0–125) pg/mL, and high-sensitivity cardiac troponin T was 20.2 (range 0–14) ng/L. The standard 12-lead electrocardiogram demonstrated sinus rhythm, left atrial enlargement and left ventricular (LV) hypertrophy with nonspecific ST segment and T-wave changes (Fig. 1A). No significant pathology was present on chest X-ray (Fig. 1B). Transthoracic echocardiography revealed significant concentric LV hypertrophy with preserved LV ejection fraction (EF 70%) and moderately decreased global longitudinal strain (GLS-13.7%). There was mild dilatation of left atrium. Ascending aorta diameter was in normal range (Fig. 1C-D). Cardiac magnetic resonance (CMR) scan confirmed concentric LV hypertrophy with the maximal wall thickness of 18 mm at interventricular septum, and increased myocardial mass (LV mass index 124 ml/m2, range 59–92). Moreover, small areas of late gadolinium enhancement were found in LV segments (Fig. 1E-F). Due to presence of vascular murmur in abdomen, ultrasound imaging was performed. The exam revealed abdominal aortic dissection (Fig. 1G-H). Patient was transferred to the computed tomography (CT) unit to confirm the diagnosis. Aortic dissection originated below renal arteries and involving common illiac arteries was detected (Stanford B). The presence of thrombi within the lumen created by the aortic dissection suggested chronic presentation. Patient was managed conservatively with strict blood pressure control and close follow up arranged. We decided to perform genetic analysis. Currently we are awaiting the results in hope that it will help us to establish the diagnosis and differentiate hypertensive heart from hypertrophic cardiomyopathy. In conclusion, aortic dissection typically presents with tearing chest pain and severe hemodynamic compromise. Painless dissection, like in this case, is relatively rare. Differential diagnosis between hypertensive heart and hypertrophic cardiomyopathy is crucial as it has direct therapeutic impact. Abstract P881 Figure 1

scholarly journals Diagnostic opportunities of magnetic resonant imagingmri of heart in differential diagnosis of phenotypical forms of hypertrophic cardiomyopathy

2021 ◽  
Vol 11 (4) ◽  
pp. 44-51
Author(s):  
A. A. Malov ◽  
R. K. Dzhordzhikiya ◽  
A. I. Abushayev
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Mitral Valve ◽  
Short Pulse ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Papillary Muscles ◽  
Post Contrast ◽  
Lv Remodeling ◽  
Myocardial Crypts ◽  
Tissue Characteristics

Introduction. Phenotype variants of left ventricular (LV) remodeling in patients with hypertrophic cardiomyopathy (HCM) are often associated with abnormalities of the mitral valve (MV), myocardiumstructure, contributing to the development of medium and/or subaortic obstruction. Itcauses the detail visualization of morphological obstruction substrates, tissue characteristics.Aim. To evaluate the possibilities of magnetic resonance imaging (MRI) in the diagnosis of various forms of HCM and combined abnormalities.Materials and methods. 75 patients with suspected HCM were examined. For verification, all patients underwentMRI using protocol: short-pulse T1w-TSE/ T2w-TSE (STIR), gradient echo in cine (CINE), T1-weighted post-contrast images (Inversion Recovery IR-MDE). Results. Patients classified into 4 types according to the anatomical principle (Wiggle E.D. et al., 1985). In addition to the most frequent forms affecting the interventricular septum (IVS) — 64 patients, unusual forms covering the apical zones and papillary muscles — 11 patients. The majority of patients were diagnosed with abnormalities of MV, divided into abnormalities of the number and position of papillary muscles, as well as the ratio of chords and muscles. Myocardial crypts were diagnosed in 12 patients, some combined with areas of non-compact myocardium. Post-contrast visualization using the delayed contrast technique allowed differentiating HCM with accumulation diseases, excluding cavity thrombosis, and evaluating the severity of myocardial fibrosis.Conclusions. MRI allows to estimate in details anatomic picture of LV remodeling, to diagnose features of the mitral valve, tissue characteristics that allows to stratify risk of sudden death, classify the HCM phenotype form and to determine the volume of surgical intervention.

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.

scholarly journals Molecular Genetic Basis of Hypertrophic Cardiomyopathy

2021 ◽  
Vol 128 (10) ◽  
pp. 1533-1553
Author(s):  
A.J. Marian
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Phenotypic Expression ◽  
Left Ventricular ◽  
Clinical Effects ◽  
Genes Encoding ◽  
Large Families ◽  
Encoding Protein

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium characterized by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac hypertrophy is often asymmetrical, which is associated with left ventricular outflow tract obstruction. Myocyte hypertrophy, disarray, and myocardial fibrosis constitute the histological features of HCM. HCM is a relatively benign disease but an important cause of sudden cardiac death in the young and heart failure in the elderly. Pathogenic variants (PVs) in genes encoding protein constituents of the sarcomeres are the main causes of HCM. PVs exhibit a gradient of effect sizes, as reflected in their penetrance and variable phenotypic expression of HCM. MYH7 and MYBPC3 , encoding β-myosin heavy chain and myosin binding protein C, respectively, are the two most common causal genes and responsible for ≈40% of all HCM cases but a higher percentage of HCM in large families. PVs in genes encoding protein components of the thin filaments are responsible for ≈5% of the HCM cases. Whereas pathogenicity of the genetic variants in large families has been firmly established, ascertainment causality of the PVs in small families and sporadic cases is challenging. In the latter category, PVs are best considered as probabilistic determinants of HCM. Deciphering the genetic basis of HCM has enabled routine genetic testing and has partially elucidated the underpinning mechanism of HCM as increased number of the myosin molecules that are strongly bound to actin. The discoveries have led to the development of mavacamten that targets binding of the myosin molecule to actin filaments and imparts beneficial clinical effects. In the coming years, the yield of the genetic testing is expected to be improved and the so-called missing causal gene be identified. The advances are also expected to enable development of additional specific therapies and editing of the mutations in HCM.

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 Alcohol septal ablation in hypertrophic cardiomyopathy

2018 ◽  
Vol 2018 (3) ◽  
Author(s):  
Juan José Santos Mateo ◽  
Juan R Gimeno
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Interventricular Septum ◽  
Ventricular Outflow Tract ◽  
Clinical Results ◽  
Left Ventricular ◽  
Alcohol Septal Ablation ◽  
Obstructive Hypertrophic Cardiomyopathy ◽  
Left Ventricular Outflow ◽  
Surgical Myectomy

Alcohol septal ablation (ASA) has become an alternative to surgical myectomy in obstructive hypertrophic cardiomyopathy since it was first introduced in 1994 by Sigwart. The procedure alleviates symptoms by producing a limited infarction of the upper interventricular septum, resulting in a decrease in left ventricular outflow tract (LVOT) gradient. The technique has been improved over time and the results are comparable with those of myectomy. Initial concerns about long-term outcomes have been largely resolved. In this review, we discuss indications, technical aspects, clinical results and patient selection to ASA.

P990Assessment of clinical risk factors for all-cause mortality among hypertrophic cardiomyopathy patients with ICDs

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
S Mielczarek ◽  
P Syska ◽  
M Lewandowski ◽  
A Przybylski ◽  
M Sterlinski ◽  
...  
Keyword(s):  
Risk Factors ◽  
Heart Failure ◽  
Family History ◽  
Secondary Prevention ◽  
Positive Family History ◽  
Left Ventricular ◽  
Icd Implantation ◽  
All Cause Mortality ◽  
History Of ◽  
End Stage

Abstract Introduction According to the literature, the annual mortality rate of hypertrophic cardiomyopathy (HCM) patients is estimated to 1–2%. Sudden cardiac death (SCD), heart failure and thromboembolism are the main causes of death among this population. Patients at high risk for SCD, identified using HCM risk score, are qualified for ICD implantation. Unfortunately for clinicians, there is no validated model or statistical tool for assessment of the risk of mortality within the HCM patients with ICDs. Purpose The aim of this study was to determine the main risk factors of all- cause mortality in HCM patients with ICDs. Methods The long-term follow-up of group of 104 consecutive patients with HCM, who had the ICD implanted between 1996 and 2006 in tertiary reference clinical unit was performed. Twenty patients who died during observation were the subject of the current analysis. ICD was implanted for primary (n=16) and secondary (n=4) prevention of SCD within this subpopulation. Analysis were performed for mentioned below potential risk factors: age at the time of implantation, syncopes, family history of SCD, atrial fibrillation/supraventricular tachycardia, decreased left ventricular ejection fraction (LVEF), non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness, abnormal exercise blood pressure response, left ventricular outflow tract obstruction. Results The average time of survival since ICD implantation was 8,5±4,6 years. Decreased LVEF (Wald chi2 4,57; p=0,033), secondary prevention (Wald chi2 8,57; p=0,003), family history of SCD (Wald chi2 4,93; p=0,026) and episodes of nsVT (Wald chi2 3,49; p=0,062) are the clinical risk factors that significantly affect the time of survival. The probability of death, expressed as Hazard Ratio, was 27-fold higher in secondary prevention group (HR=27,18), almost 10-fold higher in patients with positive family history of SCD (HR=9,74) and 3,7-fold higher when nsVT was detected. The cause of death was established in 16/20 patients. In 15 cases, these were deaths from cardiovascular causes: end-stage heart failure (8), complications of heart transplantation or circulatory support (4), SCD (1) and other cardiovascular (2). Conclusion Secondary prevention, positive family history of SCD, nsVT and decreased LVEF seem to be the most significant risk factors associated with all- cause mortality in HCM patients with ICDs. Despite the ICD implantation, subpopulation studied had poor prognosis with high incidence of progression to end-stage heart failure. Further studies to create validated model for assessment of death risk in long-term observation of patients with HCM after ICD implantation are required.

scholarly journals Cardiac Emerinopathy

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Taisuke Ishikawa ◽  
Hiroyuki Mishima ◽  
Julien Barc ◽  
Masanori P. Takahashi ◽  
Keiichi Hirono ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Left Ventricular ◽  
Cardiac Conduction ◽  
Conduction Disturbance ◽  
Ventricular Noncompaction ◽  
Increased Risk ◽  
Genes Encoding ◽  
History Of ◽  
Cardiac Conduction Defect ◽  
Female Carriers

Background: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the contrary, the phenotypic spectrums of EMD mutations are less clear. Our aims were to determine the prevalence of nonsyndromic forms of emerinopathy, which may underlie genetically undefined isolated cardiac conduction disturbance, and the etiology of thromboembolic complications associated with EMD mutations. Methods: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). Results: We identified 3 X-linked recessive EMD mutations (start-loss, splicing, missense) in families with cardiac conduction disease. All 3 probands shared a common clinical phenotype of progressive atrial arrhythmias that ultimately resulted in atrial standstill associated with left ventricular noncompaction (LVNC), but they lacked early contractures and progressive muscle wasting and weakness characteristic of Emery-Dreifuss muscular dystrophy. Because the association of LVNC with EMD has never been reported, we further genetically screened 102 LVNC patients and found a frameshift EMD mutation in a boy with progressive atrial standstill and LVNC without complications of muscular dystrophy. All 6 male EMD mutation carriers of 4 families underwent pacemaker or defibrillator implantation, whereas 2 female carriers were asymptomatic. Notably, a strong family history of stroke observed in these families was probably due to the increased risk of thromboembolism attributable to both atrial standstill and LVNC. Conclusions: Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism.

Incidence and Natural History of Left Ventricular Thrombus Following Anterior Wall Acute Myocardial Infarction

1997 ◽  
Vol 80 (4) ◽  
pp. 442-448 ◽  
Author(s):  
Sally C. Greaves ◽  
Guang Zhi ◽  
Richard T. Lee ◽  
Scott D. Solomon ◽  
Jean MacFadyen ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Natural History ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Left Ventricular Thrombus ◽  
Ventricular Thrombus ◽  
History Of
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