Type Of Hypertrophic Cardiomyopathy Research Articles

Fixation of intracapsular fracture of the femoral neck using combined peripheral nerve blocks and transthoracic echocardiography in a patient with severe obstructive hypertrophic cardiomyopathy: a case report

BackgroundHypertrophic obstructive cardiomyopathy (HOCM) is a type of hypertrophic cardiomyopathy associated with left ventricular outflow tract stenosis. The increased pressure gradients across the left ventricular outflow tract in patients with HOCM could lead to circulatory collapse. We describe our experience with perioperative management under femoral nerve block (FNB), lateral femoral cutaneous nerve block (LFCNB), and transthoracic echocardiography (TTE) monitoring during open reduction and internal fixation of a femoral neck fracture in a patient with severe HOCM.Case presentationA 72-year-old man, who was indicated to undergo open reduction and internal fixation of an intracapsular femoral neck fracture, had a history of treatment for hypertension and HOCM. He had heart failure for 4 years and was hospitalized several times. He was resuscitated after ventricular fibrillation and received an implantable cardioverter-defibrillator at that time. He also had severe physical limitations (New York Heart Association class III). We selected FNB and LFCNB as the methods for anesthesia and injected 0.25% levobupivacaine (20 mL) around the femoral nerve and 0.25% levobupivacaine (10 mL) into the lateral femoral nerve region. He underwent TTE during the perioperative period, which enabled us to perform hemodynamic and morphological evaluations of the heart. The intraoperative TTE findings remained stable from before the induction of anesthesia to the patient’s exit from the operating room. Postoperatively, his hemodynamic parameters continued to remain stable.ConclusionsIn this case, FNB and LFCNB contributed to hemodynamic stability during non-cardiac surgery. Additionally, TTE was useful for the perioperative evaluation of cardiac hemodynamics and morphology in our patient with severe HOCM.

Update on polyglucosan storage diseases.

An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. We describe the clinical, pathological and molecular features of these genetic disorders, for many of which the pathological mechanisms underlying the corresponding mutant gene have been investigated and, at least in part, understood.

The effect of hypertension on cardiac structure and function in different types of hypertrophic cardiomyopathy: A single-center retrospective study

ABSTRACTObjectives: To determine whether hypertension (HTN) affects cardiac structure and function in different types of hypertrophic cardiomyopathy (HCM).Design: Patients with obstructive HCM (n = 40), septal HCM (n = 88), and apical HCM (n = 42) were separated into hypertensive and non-hypertensive subgroups, and echocardiographic parameters at baseline and at follow-up were compared between the subgroups.Results: At follow-up, hypertensive obstructive HCM patients showed a decrease in end-diastolic volume (from 93.87 ± 26.08 mL to 79.06 ± 20.07 mL; p= 0.045) and in left ventricular end-diastolic diameter (from 45.00 ± 5.32 mm to 41.83 ± 4.58 mm; p =0.042). Non-hypertensive obstructive HCM patients showed a decrease in maximum aortic velocity (from 2.01 ± 0.53 m/s to 1.28 ± 0.25 m/s; p= 0.011) and in aortic maximum pressure gradient (from 17.22 ± 9.57 mm Hg to 6.79 ± 2.44 mm Hg; p= 0.03). Hypertensive apical HCM patients showed an increase in end-diastolic volume (from 95.28 ± 16.54 mL to 119.74 ± 25.19 mL; p= 0.016) and in left ventricular end-diastolic diameter (from 45.28 ± 3.36 mm to 50.20 ± 4.56 mm; p= 0.007).Conclusions: HTN can affect left ventricular capacity in obstructive HCM and apical HCM, causing a decrease in ventricular capacity in the former and increase in the latter; it has no significant effect on the size of the left ventricular cavity in septal HCM. HTN can lead to a poor therapeutic effect on aortic flow rate and pressure gradient in obstructive HCM patients.

Mechanical dyssynchrony and diastolic dysfunction are common in LVH: a pilot correlation study using Doppler echocardiography and CZT gated-SPECT MPI

Hypertrophic cardiomyopathy (HCM) is an often under-diagnosed cause of left ventricular hypertrophy (LVH). It affects 1/500 of the population, is the most commonly inherited cardiovascular disorder, and can present in apical, concentric, or septal forms. Although most patients are asymptomatic, sudden cardiac death can be the initial presentation of HCM. By retrospectively enrolling patients suspected of having three different types of HCM in the absence of epicardial coronary stenosis, we aimed to examine systolic and diastolic dysfunction and perfusion abnormalities using both Doppler echocardiography and state-of-the-art gated single-photon emission computerized tomography (SPECT) myocardial perfusion imaging (MPI) with a cadmium-zinc-telluride camera and thallium-201. Both regional perfusion and gated SPECT parameters were collected in addition to diastolic parameters from Doppler echocardiography. The results showed that mild ischemia was common in patients suspected of having HCM, with a mean summed stress score of 4.7 ± 4.9 (score 0–4 in 17-segment model). The patients with HCM were associated with discernible left ventricular mechanical dyssynchrony, especially those with the apical form. In addition, diastolic dysfunction was prevalent and early to late ventricular filling velocity ratios were significantly different between groups. By combining gated-MPI and Doppler data, the trivial functional changes in HCM may be identified.

DIAGNOSTIC SIGNIFICANCE OF NOVEL MARKERS FOR ASSESSMENT OF MYOCARDIUM CONDITION IN OBSTRUCTIVE DIFFUSE-GENERALIZED FORM OF HYPERTROPHIC CARDIOMYOPATHY

Aim . To evaluate informativity and relation of changes of galectin-3 (G3) and natriuretic brain peptide (BNP) in diagnostics of myocardium dysfunctions during analysis of surgical intervention in HCMP patients. Material and methods . An analysis is presented, of 30 patients with diffusegeneralized type of hypertrophic cardiomyopathy (HCMP) (16 females and 14 males, mean age 53,7±2,8 y. o.), who during the time from 2009 to may 2016 in V. B. Petrovskiy Russian National Research Centre of Surgery, underwent the operation of extended myectomy. Before and after operation all patients underwent laboratory tests with measurement of the levels of BNP and G3 in serum, echocardiography, MRI/MSCT of the heart. Operations were done on-pump and pharmaco-cold cardioplegy. Results. In transthoracal echocardiography there was significant decrease revealed, of interventricular septum thickness and gradient of ascending LV tractus, and nonsignificant enlargement of LV cavity during systole. In analysis of i. v. contrast MRI/MSCT of the heart in 26 patients there was non-significant increase of LV cavity during systole and decrease of LV mass in diastole. In analysis of serum BNP level as an important marker of clinical course and treatment efficacy, there was significant decrease of the values comparing to baseline in pre-operation period. Conclusion. The extended myectomy surgery with parietal resection of papillary muscles makes it to reach good effect on an interventricular pressure gradient elimination in the space of whole ascending tractus of the left ventricle. Comparing to BNP that make it possible to evaluate the effectiveness of treatment, G3 is not so effective in diagnostics and there is yet no convincing evidence to confirm the value of G3 concentration in blood as an instrument that can be applied in monitoring of surgery effect.

Elevated Cardiac Enzymes in Hypertrophic Cardiomyopathy Patients With Heart Failure - A 20-Year Prospective Follow-up Study.

To better understand the evolution of typical hypertrophic cardiomyopathy (HCM) to heart failure (HF), we investigated the relationship between serum biochemical abnormalities and changes in left ventricular (LV) remodeling. Seventy-seven HCM patients were followed for 20 years. Creatine kinase (CK), CK-MB, lactate dehydrogenase (LDH), LDH-1, troponin T and myosin light chain-1 (MLC-1) were measured. Abnormal CK-MB elevation was observed in 64% of HCM patients. LDH-1 was not significantly different compared with the control subjects. Troponin T elevation was observed in 3 HCM patients and MLC-1 elevation was not observed. According to median CK-MB, HCM patients were divided into 2 groups: group H (CK-MB ≥2.5%, n=33) and group L (CK-MB <2.5%, n=44). During the follow-up period in group H, LV end-diastolic dimension increased (P<0.0001), fractional shortening decreased (P<0.0004), and left atrial dimension increased (P<0.0001). The markers reflecting LV hypertrophy were significantly decreased. In group L, LV end-diastolic dimension increased (P<0.02) and left atrial dimension increased (P<0.0001). HF was observed in 18 patients in group H and in 4 in group L. There were 14 HF deaths in group H and 2 in group L, and 3 sudden cardiac deaths in group H. Persistent elevation of cardiac enzymes in HCM patients indicates ongoing myocardial injury, ultimately resulting in death by HF.

Abstract 16793: Association of Impairment of Myocardial Metabolism and Ventricular Arrhythmic Events in Patients With Hypertrophic Cardiomyopathy by Single Photon Emission Computed Tomography With A Solid-state Dedicated Cardiac Camera

Background: Ventricular arrhythmic events have adverse implications for patients with hypertrophic cardiomyopathy (HCM). However, little has been reported on the relationship between myocardial metabolic abnormalities and ventricular arrhythmia. Iodine-123-beta-methyl iodophenyl-pentadecanoic acid (BMIPP) is used to assess myocardial metabolic abnormalities. A solid-state dedicated cardiac camera (D-SPECT) provides precise assessment of abnormal uptake and reduction of radiation dose in HCM by high sensitivity and high spatial resolution. Objective: The aim of this study was to evaluate the utility of BMIPP using D-SPECT for prediction of ventricular arrhythmic events in patients with HCM. Methods: We studied 125 consecutive HCM patients who underwent dual SPECT with D-SPECT using BMIPP and technetium-99m sestamibi (MIBI) or thallium-201 (TL). Reduced uptake on the BMIPP image compared with the MIBI / TL perfusion image was defined as perfusion-metabolic mismatch. In quantitative analysis, a polar map was divided into 17 segments and the score of each segment was derived from the average percent uptake. Mismatch scores (MS) were calculated from the differences between the BMIPP and MIBI / TL scores. Ventricular arrhythmic events were defined as ventricular tachycardia, appropriate ICD therapy and sudden cardiac death. Results: Patients with the obstructive type of HCM had a significantly higher MS than those with the non-obstructive type. Significant correlation between the MS and left ventricular mass (r = 0.28, p &lt; 0.01) and maximal wall thickness (r = 0.27, p &lt; 0.01) were observed. MS was significantly higher in patients with ventricular arrhythmic events than in those without events (p &lt; 0.05). In ROC analysis, patients with a higher MS had significantly more arrhythmic events than those with a lower MS (cutoff value: 74.5, AUC: 0.644, p &lt; 0.01). In multivariate analysis, the MS was identified as an independent factor associated with ventricular arrhythmic events (p &lt; 0.01). Conclusions: Abnormal uptake of BMIPP in patients with HCM is associated with ventricular arrhythmic events. Dual SPECT with D-SPECT using BMIPP and MIBI / TL is a useful modality for risk stratification and may reveal the existence of substrate for ventricular arrhythmia.

Abstract 11093: Layer-specific Quantification of Myocardial Deformation by Strain Echocardiography May Reveal the Mechanism of Preserved Left Ventricular Ejection Fraction in Patients With Hypertrophic Cardiomyopathy

Purpose: We aimed to evaluate compensatory mechanisms in hypertrophic cardiomyopathy (HCM) patients (pts) with preserved left-ventricular (LV) ejection fraction (EF). Methods: Speckle-tracking echocardiography (Vivid E9, GE) was performed in 50 HCM with preserved LV EF (38 m; 49± 14 y, all LV EF &gt; 55%) and 50 age, gender matched controls (38 m; 49±12 y). The global and segmental longitudinal (LS), circumferential (CS) and radial strain (RS) strains of endocardia (End), mid-wall and epicardia layers were analyzed using a novel layer-specific TTE. The ratio of End to epicardia strain (End/Epi) was calculated. Results: The LV EF were similar in pts and controls (64±8 vs 64±7 %, p=0.95). The diastolic function was significantly impaired in HCM pts compared with controls (E/E’:18.4±8.4 vs 8.6 ±2.4, p&lt;0.0001). The absolute value of LS and CS was reserved at apical End layers (-34±7 vs -35±6, p=0.44); the remaining segments and LV global LS and CS of three layers were significantly smaller (LS,-16±5 vs -22±3; CS -24±8 vs -33±7; p&lt;0.0001), and LS and CS End/Epi (1.7±0.3 vs 1.3±0.1, 3.4±1.1 vs 1.7±0.2 respectively, P &lt;0.0001) was significantly higher in HCM pts than in controls. The RS and LV twist were preserved in all LV segments (27±10 vs 24±12, p=0.19; 20±8 vs 18±5, p=0.33; respectively). In HCM pts, the LV LS value at basal and middle levels revealed significant negative correlations with LV relative wall thickness (r=–0.65, –0.59 and –0.60, –0.54, respectively , p&lt; 0.0001); and mild negative correlations (r=-0.33,-0.29, p&lt;0.0001). The LV CS value at all levels revealed mild correlations with relative wall thickness (r=-0.22, p&lt;0.05) . The LS were significantly reduced at the hypertrophic segments (Figure). Conclusions: In HCM patients with preserved LVEF, LV GLS was impaired, but apical End LS and basal End CS, LV RS as well as LV twist were maintained as the compensation for reduction LV LS and CS. The Bull’s eye of LS may help us to localize the lesion segments and define the type of HCM.

ANATOMIC AND MORPHOLOGICAL SIGNS OF A DIFFUSE-GENERALIZED HYPERTROPHIC CARDIOMYOPATHY

Aim. Based on the instrumental, histological and genetic studies to show the role and significance of intracardial anomalies and morphological specifics of the special form of hypertrophic cardiomyopathy (HCM), that the authors name as diffuse-generalized. Material and methods. A clinical, instrumental, histological and molecular-genetic study was conducted with 16 enrolled patients with diffuse-generalized form of HCM, who underwent complex surgical interventions: by transaortal approach the extended myoectomy of interventricular sept, and by intraatrial approach — parietal resection of papillary muscles, and universal chordal-sparing mitral valve replacement. Results. There was no in-hospital mortality. The long-term results for up to 5 years show that all patients moved from the IV-III NYHA to I-II NYHA functional classes. Morphological study showed that in the base of myocardial mass increase in HCM there is neither hypertrophy, but hyperplasia of cardiomyocytes. All 16 patients showed significant signs of myxomatous mitral valve degeneration. Conclusion. Diffuse-generalized type of HCM is due to spread hyperplasia process in myocardium. The invented radical remodeling operation abolishes intraventricular severe changes of pressure and increases diastolic volume of the left ventricle, preventing diastolic dysfunction development.

Factors Predicting Long‐Term Mortality in Patients with Hypertrophic Cardiomyopathy

In this study, we aimed to elucidate the factors affecting long-term all-cause mortality in patients with hypertrophic cardiomyopathy (HCM). We retrospectively examined 31 patients (22 males and 9 females) diagnosed with HCM from 1999 to 2013. All subjects had sinus rhythm at the time of evaluation. Four patients had history of paroxysmal atrial fibrillation (PAF). In addition to echocardiographic examination plasma angiotensin-converting enzyme (ACE) activity and gene polymorphism were determined. The variables that were found to be significant in mortality were then included in multivariate analysis. At the final follow-up examination, 12 patients had died, including 2 due to congestive heart failure and 10 due to sudden cardiac death. Patients with PAF had significantly higher mortality (P=0.008). Moreover, left ventricular (LV) end-diastolic diameter (P=0.04), LV systolic diameter (P=0.001), LV mass index (P=0.01), and left atrium diameter (P=0.003) were found to be significantly correlated with mortality. However, no significant correlation was noted between mortality and age, type of HCM (familial/nonfamilial and obstructive/nonobstructive), ACE gene polymorphism, and plasma ACE level. In the multivariate analysis, left atrial (LA) diameter was still significantly associated with mortality. The LA diameter with a cutoff value of 4.1cm predicted 13-year mortality with a sensitivity of 82% and specificity of 78%. Instead of the ACE genotype and activity, echocardiographic evaluation findings such as LV systolic and diastolic diameters, LV mass index, and particularly LA dimension may predict long-term mortality in patients with HCM. PAF has also significant importance in the long-term mortality in patients with HCM.

Primary Cardiac Lymphoma Presenting as an Atypical Type of Hypertrophic Cardiomyopathy

Primary cardiac lymphoma (PCL) is a very rare malignancy although cardiac involvement with the disseminated disease is not uncommon. We present a case of a 43-year-old man with PCL that initially presented as marked thickening of all cardiac walls and was mistakenly diagnosed as an atypical type of hypertrophic cardiomyopathy. The diagnosis of PCL was made with a delay of 9 months after the initial presentation, when atypical lymphocytes staining positive for CD79a and CD20 were demonstrated in the rapidly growing mediastinal and neck mass. Anthracycline-based chemotherapy and anti-CD20 immunotherapy resulted in a remarkable reduction in cardiac wall thickness and mediastinal mass. The first lesson to be learnt from this case is that PCL can present as a diffuse infiltrative disease without a mass. The second lesson is that prompt exploratory thoracotomy should not be delayed when the diagnosis is elusive.

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

BackgroundHypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved.MethodsA pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls.ResultsA novel missense mutation (c.1469G>T, p.Gly490Val) in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM.ConclusionsOur data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling.

ASSA13-06-5 Autosomal Recessive Tansmission of MYBPC3 Mutation Resulted in Malignant Phenotpye of Hypertrophic Cardiomyopathy

Background Hypertrophic cardiomyopathy (HCM) secondary to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. Methods A pedigree was identified with suspected autosomal recessive transmission of HCM. The proband and his younger brother were diagnosed with HCM, and his older brother incurred sudden cardiac death at 23 years of age. However, other family members were all clinically normal. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members. Results A novel missense mutation (c.1469G > T, p.Gly490Val) in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM. Conclusions These data suggest that the inheritance pattern of HCM may be more complex than previously thought. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counselling.

Apical Hypertrophic Cardiomyopathy Mimics Acute Coronary Syndrome: Case Report

DOI: 10.7247/jiumf.2012.19.1.33_35 Apical hypertrophic cardiomyopathy (HCM) is a relatively rare form of HCM, in which the hypertrophy of myocardium predominantly involves the apex of the left ventricle. The typical features of Apical HCM, first described by Sakamoto and Yamaguchi and their associates, consist of giant T wave negativity in the electrocardiogram and a “spadelike” configuration of the LV cavity at end-diastole on left ventriculography. Apical HCM generally has a more benign course compared to other variants HCM.Although the best tool for diagnosis of HCM is transthoracic echocardiography (TTE) apical type of HCM may be occasionally overlooked during routine examination. We present a 38 years old male with HCM who was referred from the out center with the preliminary diagnosis of acute coronary syndrome but indeed he had HCM and in whom HCM was overlooked during TTE examination.

Negative Ionotropic Agents for the Treatment of Left Ventricular Outflow Tract Obstruction Due to Sigmoid Septum and Concentric Left Ventricular Hypertrophy

Negative ionotropic agents are established treatments for left ventricular outflow tract obstruction (LVOTO) in hypertrophic cardiomyopathy (HCM). However, their benefit in those with LVOTO without typical HCM is unclear. We evaluated if negative ionotropic agents are beneficial in treatment of LVOTO in patients without typical HCM. In this retrospective cohort study, we evaluated echocardiograms and reviewed records of 15 patients with resting LVOT obstruction due to sigmoid septum (SS, n=9) and mild concentric left ventricular hypertrophy (LVH, n=6). Patients received treatment with sequential negative ionotropic agents (β-blockers and disopyramide). Initial symptoms, presentation characteristics and echocardiographic characteristics pre and post treatment were evaluated. Fifteen patients (mean age 66.2 years, 46.7% male) were included. Dyspnoea (NYHA Class II/III) was reported as the initial symptom in all patients with four patients reporting chest pain. All patients had hypercontractile LV function at baseline (fractional shortening 46.29±8.77%) but had normal LVS/PW ratio (1.03±0.10). The mean resting LVOT gradient was 74.4±55.2 mmHg. Fourteen patients received initial β-blocker therapy with a mean reduction in peak LVOT gradient of 40.9 mmHg seen in 11 patients that responded to therapy (p=0.02). Nine patients received disopyramide with a further 24.2±25.8 mmHg reduction in peak LVOT gradient observed in eight patients who tolerated treatment (p=0.04). Symptomatic improvement occurred in 80% of treated patients. In patients with LVOTO without typical HCM, sequential treatment with negative ionotropes is associated with a significant reduction in the degree of LVOTO and leads to symptomatic improvement.

The Diagnosis and Treatment of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common hereditary disease of the heart. In this article, we summarize the current state of the diagnosis and treatment of HCM on the basis of a selective review of recent publications with relevance to clinical practice. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Thus, HCM can be thought of as a sarcomeric disease, with myocardial fiber disarray as its histological hallmark. There are two types of HCM, a more common, obstructive type (HOCM, 70%) and a less common, non-obstructive type (HNCM; in all cases of HCM, testing should be performed to detect outflow obstruction at rest and/or on provocation, and to thereby determine whether HOCM or HNCM is present. The symptoms of HCM include dyspnea, angina pectoris, palpitations, dizziness, and occasionally syncope. Because sudden cardiac death is the most serious complication of HCM, particularly in young and asymptomatic patients, it follows that correct diagnosis, followed by risk stratification of patients with regard to the need for prophylactic implantation of an implantable cardiac defibrillator (ICD), can be of life-saving importance. The pharmacotherapy of symptomatic HNCM consists of the treatment of heart failure with a normal ejection fraction (HFNEF). In HOCM, the patient's symptoms and the obstructive gradient are the guide to treatment with beta-blockers or verapamil. For patients with drug-resistant disease, surgical myectomy and percutaneous septal ablation are now standard treatments. A near-normal life expectancy and a highly satisfactory quality of life are now realistic treatment goals for patients with HCM.

Ventricular Tachyarrhythmia Associated with Hypertrophic Cardiomyopathy: Incidence, Prognosis, and Relation to Type of Hypertrophy

To assess the incidence, characteristics, and prognosis of ventricular tachyarrhythmia in hypertrophic cardiomyopathy (HCM). The study consisted of 66 consecutive patients with HCM who were admitted to Niigata University Hospital between 1992 and 2005. Their clinical characteristics and ECG morphology were investigated according to the type of HCM. The type of HCM was asymmetric hypertrophy (ASH) in 34 patients (51%), obstructive HCM (HOCM) in 9 (14%), apical HCM (ApHCM) in 14 (21%), and midventricular obstruction (MVO) in 9 (14%). The cause of admission was ventricular tachyarrhythmia in 25 patients (38%), unexplained syncope in 11 (17%), and heart failure in 30 (45%). Sustained monomorphic ventricular tachycardia (SMVT) occurred in 19 patients and ventricular fibrillation in 6. In the 19 patients with SMVT, 12 had MVO and 3 of these had previous apHCM. Six of the 19 patients with SMVT had ASH, and 3 had abnormal apical wall motion. In 14 patients, the SMVT appeared to originate from the apical aneurysm based on the morphology of the tachycardia. Ventricular tachyarrhythmia recurred in 14 of the 25 patients (56%), and 4 of the 18 patients with an ICD had electrical storm. ASH with abnormal wall motion of the LV apex or MVO was recognized in the 4 patients with electrical storm; they commonly had abnormal Q waves and ST elevation in leads V4-V6. Ventricular tachyarrhythmia was responsible for 38% of hospitalizations in HCM, and SMVT occurred in patients with MVO and/or with abnormal wall motion of the LV apex. Electrical storm was more common in patients with ST elevation in precordial leads V4-V6.

Heterogeneity of Clinical Manifestation of Hypertrophic Cardiomyopathy Caused by Deletion of Lysine 183 in Cardiac Troponin I Gene Insight From Two Autopsy Cases With an Identical Sarcomeric Gene Mutation

Hypertrophic cardiomyopathy (HCM) is associated with gene mutations that encode sarcomeric proteins. However, the relationship between genotype and histopathologic findings is unclear. We report on two autopsy cases with advanced HCM associated with deletion of lysine 183 mutation in the cardiac troponin I gene. One case, a 74-year-old female exhibited dilated cardiomyopathy-like features. Transmural scarring was diffuse and circumferential, involving the whole left ventricle, especially the ventricular septum which was replaced with extensive fibrosis and showed marked wall thinning. The other case, a 92-year-old male revealed typical HCM findings. Patchy scars which corresponded to replacement fibrosis were found extending from the septum to the anterior wall. These two autopsy cases indicate the clinical heterogeneity of HCM even within the same disease-causing mutation and suggest that the degree and extent of fibrosis determine differences in the clinical manifestations of HCM. This is the first autopsy report that demonstrates identical sarcomeric gene mutations causing different clinical manifestations and histologic findings. The findings suggest that additional genetic or environmental factors influence the phenotypic expressions and clinical courses of HCM caused by genetic mutation of sarcomeric proteins.

Evaluation of Hemodynamic Change Using Occlusion Balloon Catheter in an Atrial Septal Defect Patient With Midventricular Obstruction

A 57-year-old woman required repetitive hospitalization because of decompensated heart failure. She has an atrial septal defect (ASD) with midventricular obstruction (MVO) type of hypertrophic cardiomyopathy (HCM) confirmed by echocardiography. A pressure study documented an increased left ventricular (LV) end-diastolic pressure (20 mmHg) and pulmonary hypertension. Examinations of oxymetry revealed the left-to-right atrial shunt ratio of 52.8% with the pulmonary to systemic flow rate of 2.58. Temporally ASD closure using an occlusion balloon catheter induced an abrupt increase in left atrial pressure from 22 mmHg to 53 mmHg as shown in Figure.

Late contrast enhancement by CMR: more than scar?

Late contrast enhancement by CMR: more than scar?