Apical Variant Of Hypertrophic Cardiomyopathy Research Articles

Race, gender and clinical presentation in apical hypertrophic cardiomyopathy

Abstract Funding Acknowledgements Type of funding sources: None. Background The apical variant of hypertrophic cardiomyopathy (ApHCM) has male predominance and is a relatively rare phenotype in Western population. Characteristics of female and black patients diagnosed with ApHCM are very limited in the existing literature. Purpose We aimed to investigate whether gender and race are associated with a different clinical presentation and CMR findings in apical HCM. Methods We retrospectively analysed 150 patients (113 males and 37 females) with a diagnosis of apical HCM who have been followed in our inherited cardiac conditions (ICC) clinic between 2010 and 2020. Only patients with a CMR study and apical hypertrophy defined as ≥ 13mm at the time of diagnosis were included. Demographics and clinical characteristics were obtained from electronic records. Volumetric CMR data were taken from confirmed reports while other parameters were measured by standard protocol. "Pure" ApHCM was defined as isolated apical hypertrophy and "mixed" with both apical and septal hypertrophy but with the apex thickest (1). Apical displacement of papillary muscles (PM) was defined when the base of PM originated from the apical one-third of the left ventricle (LV) in the apical 4- or 2-chamber views. Giant T-wave inversion was defined as T-wave inversion that is equal or greater than 10 mm (1 mV) in any electrocardiogram lead. Results Our study population included patients of White (55, 37%), Black (37, 25%), Asian (36, 24%) and Mixed/Others (22, 15%) ethnicity. Black patients were more likely to have a diagnosis of hypertension at presentation when compared to White (70% vs 40%, p = 0.01) and to Asian and Mixed/Other patients (70% vs 48%, p = 0.03). Similarly, they were more likely to have "mixed" ApHCM than White (49% vs 20%, p = 0.003) and Asian and Mixed/Other (49% vs 26%, p = 0.02) patients. Females were diagnosed at an older age (63 ± 12 vs 52 ± 14, p < 0.001) and were less likely to have deep T-wave inversion on their ECG at presentation (14% vs 32%, p = 0.03) compared to their male counterparts. Females in this cohort also had higher representation of black ethnicity and were more likely to have hypertension (68% vs 47%, p = 0.03). Apart from the expected gender related differences in volumes and LV mass, there were no differences in cardiomyopathy-specific parameters we investigated. Conclusions In our cohort, females with ApHCM presented at an older age and were less likely to have giant T-wave inversion on ECG. Black patients with ApHCM were more likely to have hypertension and the "mixed" type of the disease.

APICAL VARIANT HYPERTROPHIC CARDIOMYOPATHY PRESENTS AS MID-CAVITARY HYPERTROPHIC CARDIOMYOPATHY WITH OBSTRUCTION 10 YEARS LATER

Apical variant hypertrophic cardiomyopathy (AHCM) is a rare genetic disease with variable phenotypic expression, typically associated with a benign prognosis. A 71-year-old female with AHCM presented with 3 days of exertional chest pain and was found to have NSTEMI. EKG showed deep T-wave

Apical variant hypertrophic cardiomyopathy "multimodality imaging evaluation".

Apical variant hypertrophic cardiomyopathy (AHCM) is characterized by asymmetric hypertrophy of the left ventricular (LV) apex. T wave inversions of variable degree, particularly in the left precordial leads, and left ventricular hypertrophy (LVH) are common EKG findings in AHCM. Echocardiography is typically the initial imaging modality used in the diagnosis and evaluation of AHCM. The diagnosis is made when the LV apex has apical wall thickness of ≥ 15 mm or a ratio of apical tobasal LV wall thickness of ≥ 1.3 at end-diastole. The use of microbubble contrast agents with echocardiography is helpful for visualization of the apex. Cardiac magnetic resonance (CMR) has the advantage of a large field of view and the ability to perform tissue characterization. Late gadolinium enhancement (LGE) sequences are essential in the assessment of potential areas of myocardial scarring. Cardiac computed tomography (CCT) has the advantage of being able to evaluate coronary arteries in addition to assessing cardiac anatomy and function. A "Solar Polar" map pattern is the characteristic feature of AHCM on myocardial perfusion imaging (MPI) in cases not associated with apical aneurysm (APA). Recognition of typical perfusion patterns in AHCM patients is not only important in the diagnostic evaluation of this disease process, but also for avoiding unnecessary and costly tests. The purpose of this article is to review the imaging features of AHCM from different imaging modalities and assess the value added of each modality in the diagnosis of AHCM.

Case Study: Dilated Cardiomyopathy Evolves into Apical-Variant Hypertrophic Cardiomyopathy

Introduction Apical-variant hypertrophic cardiomyopathy (HCM) is a form of HCM in which hypertrophy is limited to the left-ventricular apex. Apical-variant HCM is rarely obstructive, though there is still an increased risk of atrial fibrillation, myocardial infarction, and sudden cardiac death (SCD). Apical-variant HCM has not previously been described in a patient with a prior diagnosis of dilated cardiomyopathy (DCM). Case A 53-year-old female with a history of hypertension and type-II diabetes mellitus presented with progressive dyspnea on exertion, fatigue and lower extremity swelling. Family history was significant for SCD of her mother at age 45. An initial transthoracic echocardiogram (TTE) showed DCM with an ejection fraction (EF) 15% and left ventricular end diastolic dimension (LVEDD) of 6.8 cm. The patient was placed on guideline-directed medical therapy (GDMT) and ultimately received cardiac resynchronization therapy with a defibrillator (CRT-D). One year later, EF was 25% with LVEDD 7.1 cm (Figure 1). A subsequent TTE two years later showed resolution of DCM with EF 55% and LVEDD of 5.1 cm. However, a new finding on this TTE was apparent: the apex demonstrated a spade-like shape on contraction consistent with apical-variant HCM (Figure 2). The patient underwent genetic testing but no genetic cause of either DCM or HCM was identified. Discussion HCM is caused by autosomal-dominant inheritance of a defective gene in sarcomere proteins. DCM and HCM are linked in that some etiologies of DCM are driven by sarcomeric protein abnormalities. DCM is also a rare phenotypical variant of HCM generally occurring very late in the disease and evolving from an initially hypertrophic myocardium. The opposite, in which DCM evolves into apical-variant HCM, to the best of our knowledge, has not been described in the literature. This relationship, as well as a family history of early SCD, suggest an inherited sarcomeric disorder manifesting as two discrete phenotypes within the same individual. This evolution may be due to treatment with GDMT, or it may be a rare expression of the disease's natural history. Only a fraction of cases of idiopathic DCM and HCM have an identifiable genetic cause and, thus, lacking an identified mutation does not preclude an inherited cardiomyopathy.

THE EVOLUTION OF APICAL HYPERTROPHIC CARDIOMYOPATHY

Apical variant hypertrophic cardiomyopathy (AHCM) is a rare genetic disease that causes thickening of the left ventricular apex (LVA). It is unclear how the myocardium restructures over time in individuals with AHCM. Here, we present a patient with known AHCM whose myocardium evolved to develop mid-

APICAL VARIANT HYPERTROPHIC CARDIOMYOPATHY AND MULTIPLE ICD SHOCKS

Monomorphic ventricular tachycardia (VT) is uncommon in apical hypertrophic cardiomyopathy (HCM). A 52 year old male with known apical variant HCM had previously undergone implantation of an endocardial ICD for sudden death prevention. Several years later he presented to our institution with

Apical Hypertrophic Cardiomyopathy in an asymptomatic male

Apical Hypertrophic cardiomyopathy is a rare variant of HCM and has a prevalence of around ~ 15 % among HCM patients. As compared to other variants, it has a relatively benign prognosis. Predominantly prevalent in the Japanese population; it is characterized by localized hypertrophy of the LV apex as compared to other segments. It is usually silent in early stages and is manifested at an adult stage with typical ECG changes of giant T wave inversions in the precordial leads. Transthoracic echocardiography remains the mainstay of non – invasive diagnosis. We report a case of an asymptomatic elderly male who presented with the classical deep T wave inversion in ECG for which echocardiography revealed the apical variant of hypertrophic cardiomyopathy.

Case report: Apical variant hypertrophic cardiomyopathy simulating an acute inferior myocardial infarction

We present a female patient who arrived to the emergency department with chest pain without known medical history at the time of consultation. Considering her risk factors and electrocardiographic findings, it was decided to perform a coronary catheterization under the suspicion of acute myocardial infarction. The catheterization and another studies was negative for coronary artery disease. Additional studies were conclusive for apical variant hypertrophic cardiomyopathy or Yamaguchi syndrome.

Usefulness of Focused Screening Echocardiography for Collegiate Athletes

Sudden cardiac death in a young healthy athlete is a rare but catastrophic event. The American Heart Association preparticipation screening guidelines recommend a focused history and physical without routine imaging or electrocardiogram screening. We hypothesized that a focused echocardiogram can identify structural abnormalities that may lead to sudden cardiac death in athletes, which might otherwise go undetected by history and physical. We retrospectively reviewed the charts of all incoming collegiate athletes at a single university from 2005 to 2013, all of whom had undergone a focused, 5-minute echocardiogram along with a guideline-based preparticipation history and physical (PPS H&P). Abnormal findings prompted further testing or referral. We report the prevalence of abnormal findings and the relation between an abnormal PPS H&P and screening echocardiogram. A total of 2,898 athletes were screened and 159 (5%) had findings. Forty athletes underwent further testing and evaluation. Of these athletes, 3 had newly diagnosed abnormalities that warranted restriction of participation: 1 apical-variant hypertrophic cardiomyopathy, 1 large bidirectional atrial septal defect with right ventricular dysfunction, and 1 dilated ascending aorta. Two of these athletes had a normal PPS H&P. Conversely, of the 661 athletes with an abnormal PPS H&P, only 1 (0.15%) had an abnormal screening echocardiogram. In conclusion, although the overall number was low, the 5-minute screening echocardiogram detected athletes at risk for sudden cardiac death not discovered on PPS H&P.

Apical Hypertrophic Cardiomyopathy: A Concerning Electrocardiogram in the Emergency Department

BackgroundApical hypertrophic cardiomyopathy is a rare, complex phenotypic variant of the classically taught hypertrophic cardiomyopathy. It is highly variable in its pathophysiology as well as its clinical course, spanning the spectrum from a healthy asymptomatic lifestyle to sudden cardiac death and severe diastolic dysfunction. The hallmark electrocardiographic findings of unusually large T-wave inversions, in conjunction with the most common presenting symptom being chest pain, makes this disease entity concerning in the emergency department (ED) setting. Case ReportA 61-year-old man with a history of hypertension presented to the ED with chest pain. His electrocardiogram exhibited a biphasic T wave in lead V2 with ST depressions in leads V3–V6 with deep symmetrical T-wave inversions in these leads as well. His troponin was negative and the patient was taken for cardiac catheterization. Catheterization revealed no coronary artery disease; however, it revealed a “spade like” filling pattern of the left ventricle, suggestive of an apical variant of hypertrophic cardiomyopathy. Subsequent cardiac magnetic resonance imaging confirmed the diagnosis of apical hypertrophic cardiomyopathy and the patient was started on a beta-blocker and discharged with cardiology follow-up. Why Should an Emergency Physician Be Aware of This?Electrocardiographic interpretation is a critical skill of the emergency physician. Awareness of the syndrome and its specific electrocardiogram findings may help facilitate further testing that will aid in timely diagnosis and interventions.

Management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy

Healthcare professionals are faced with challenging decisions regarding patient evaluation and management on a daily basis. Once a diagnosis is made, additional challenges include how to proceed with the management. Here, we present an eighty-two-year-old female who was incidentally diagnosed with the apical variant of hypertrophic cardiomyopathy on a transthoracic echocardiogram. She was found to have newly diagnosed atrial fibrillation, but was otherwise asymptomatic from a cardiomyopathy standpoint. No specific guidelines exist for this patient population. Therefore, how does one proceed with the management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy?

PARADOXICAL LOW-FLOW SEVERE AORTIC STENOSIS IN THE SETTING OF APICAL VARIANT HYPERTROPHIC CARDIOMYOPATHY

Paradoxical low-flow severe aortic stenosis (AS) poses a unique diagnostic challenge due to discordant echocardiographic findings. Apical variant hypertrophic cardiomyopathy (HCM) is a relatively rare condition with symptoms that may mimic those of severe AS. An 86-year-old Caucasian man presented

Invited Commentary

HomeRadioGraphicsVol. 33, No. 7 PreviousNext Cardiac ImagingInvited CommentaryDavid A BluemkeDavid A BluemkeAuthor AffiliationsRadiology and Imaging Sciences, National Institutes of Health Clinical Center Bethesda, MD, 20892David A BluemkePublished Online:Nov 1 2013https://doi.org/10.1148/rg.337135169MoreSectionsFull textPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In Reference1. Stojanovska J, Garg A, Patel S, Melville DM, Kazerooni EA, Mueller GC. Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification. RadioGraphics 2013;33(7):1977–2001. Link, Google ScholarArticle HistoryPublished online: Nov 2013Published in print: Nov 2013 FiguresReferencesRelatedDetailsRecommended Articles Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and ManagementRadioGraphics2016Volume: 36Issue: 2pp. 335-354Cardiovascular CT and MRI in 2020: Review of Key ArticlesRadiology2021Volume: 301Issue: 2pp. 263-277Radiologic-Pathologic Correlation of Primary and Secondary Cardiomyopathies: MR Imaging and Histopathologic Findings in Hearts from Autopsy and TransplantationRadioGraphics2017Volume: 37Issue: 3pp. 719-736Cardiac MRI of Hereditary CardiomyopathyRadioGraphics2022Volume: 42Issue: 3pp. 625-643Fibrofatty Changes: Incidence at Cardiac MR Imaging in Patients with Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyRadiology2016Volume: 280Issue: 2pp. 405-412See More RSNA Education Exhibits Apical Variant Hypertrophic Cardiomyopathy “Multimodality Imaging Evaluation”Digital Posters2019Challenges and New Perspectives in Pediatric Cardiomyopathies Characterization by Cardiac Magnetic Resonance: What to Know and What to Look ForDigital Posters2019Role of Cardiogenetics Imaging in the Era of Radiogenomics and Precision MedicineDigital Posters2019 RSNA Case Collection Hypertrophic cardiomyopathyRSNA Case Collection2020Chronic myocardial infarctionRSNA Case Collection2020Acute myocardial InfarctionRSNA Case Collection2021 Vol. 33, No. 7 Metrics Altmetric Score PDF download

Robotic catheter ablation of left ventricular tachycardia: initial experience

Catheter ablation of ventricular tachycardia (VT) can be technically challenging due to difficulty with catheter positioning in the left ventricle (LV) and achieving stable contact. The Hansen Sensei Robotic system (HRS) has been used in atrial fibrillation but its utility in VT is unclear. The purpose of this study was to test the technical feasibility of robotic catheter ablation of LV ventricular tachycardia (VT) using the HRS. Twenty-three patients underwent LV VT mapping and ablation with the HRS via a transseptal, transmitral valve approach. Nineteen patients underwent substrate mapping and ablation (18 had ischemic cardiomyopathy, 1 had an apical variant of hypertrophic cardiomyopathy). Four patients had focal VT requiring LV VT mapping and ablation. Procedural endpoints included substrate modification by endocardial scar border ablation and elimination of late potentials, or elimination of inducible focal VT. Mapping and ablation were entirely robotic without requiring manual catheter manipulation in all patients and reaching all LV regions with stable contact. Fluoroscopy time of the LV procedure was 22.2 ± 11.2 minutes. Radiofrequency time was 33 ± 21 minutes. Total procedural times were 231 ± 76 minutes. Complications included a left groin hematoma (opposite to the HRS sheath), 1 pericardial effusion without tamponade that was drained successfully, and transient right ventricular failure in a patient with previous left ventricular assist device. At 13.4 ± 6.7 months of follow-up (range 1-19 months), recurrence of VT occurred in 3 of 23 patients. Our initial experience suggests that the HRS allows successful mapping and ablation of LV VT.

Apical Hypertrophic Cardiomyopathy in an Adolescent

To our knowledge, this is one of the few reported cases of apical hypertrophic cardiomyopathy in an adolescent patient in the United States. We describe a clinical presentation of an adolescent male who presented for cardiac evaluation and was found to have an apical variant of hypertrophic cardiomyopathy.

Single coronary artery in a patient with apical variant hypertrophic cardiomyopathy

Computed tomographic coronary angiography can noninvasively provide valuable anatomical information that may delineate the mechanism of ischemia (1). The resting electrocardiogram of a 70-year-old woman with a history of hypertension, dyslipidemia and chest pain is shown in Figure 1A. Dipyridamole stress myocardial perfusion imaging revealed distal anterior wall and apical ischemia. Computed tomographic angiography demonstrated the presence of Yamaguchi’s apical variant of hypertrophic cardiomyopathy. The characteristic spade-like configuration of the left ventricular cavity is shown in multiplanar and three-dimensional volume-rendered two-chamber views of the left atrium and left ventricle during diastasis (Figures 1B and ​and1C).1C). A single coronary artery arising from the right sinus of Valsalva is shown in Figures 1C and ​and1D.1D. The left main artery (elongated arrow) coursed posterior to the aortic root, supplying a very small left anterior descending artery (right ventricular outflow tract [short arrow]). A large posterior interventricular artery supplied most of the apex. No significant coronary obstructions were detected. Figure 1 Both apical hypertrophic cardiomyopathy and anomalous coronary arteries are rare. Yamaguchi’s variant accounts for less than 10% of hypertrophic cardiomyopathy cases in some reports (2) and anomalous coronary arteries occur in less than 1% of live births (3).

Familial apical hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HC) may show a wide variety of morphologic patterns. 1 The incidence is often familial, usually with an autosomal dominant inheritance, 2 but the hypertrophy patterns are usually dissimilar among closely related persons. 1 The apical variant of HC is characterized by disproportionate hypertrophy in the left ventricular apical region, 3–6 and is sometimes associated with a distinctive electrocardiographic and angiographic pattern. 3 Apical HC is usually sporadic 3,5 and when familial it has coincided with different hypertrophy patterns in the kindred. 4,6 We report 2 families with a unique variant of HC characterized by an autosomal dominant pattern of inheritance and a homogeneous apical distribution of the hypertrophy in all the affected members.