scholarly journals Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Diagnosis, Clinical Course and Therapy

2021 ◽  
Author(s):  
Davide Lazzeroni ◽  
Claudio Stefano Centorbi
Keyword(s):  
Differential Diagnosis ◽  
Heart Disease ◽  
Hypertrophic Cardiomyopathy ◽  
Clinical Course ◽  
Genetic Disorder ◽  
Metabolic Evaluation ◽  
Cardiac Nuclear Imaging ◽  
Evidence Based Treatments ◽  
General Adult Population ◽  
Adverse Remodeling

Hypertrophic cardiomyopathy (HCM) is a genetic disorder of cardiac myocytes that is characterized by cardiac hypertrophy, unexplained by the loading conditions, a non-dilated left ventricle and a normal or increased left ventricular ejection fraction (LV-EF). Prevalence of HCM has been estimated at 0.16% to 0.29% (≈ 1:625–1:344 individuals) in the general adult population. HCM represents the most common genetic heart disease and represent an archetypical single gene disorder with an autosomal dominant pattern of inheritance and historically termed a “disease of the sarcomere”. The precise mechanisms by which sarcomere variants result in the clinical phenotype have not been fully understood. Mutant sarcomere genes trigger several myocardial changes, leading to hypertrophy and fibrosis, which ultimately result in a small, stiff ventricle with impaired systolic and diastolic performance despite a preserved LV-EF. The most common differential diagnosis challenges in the presence of hypertrophic heart disease are represented by: athlete’s heart, hypertensive heart and other cardiomyopathies mimicking HCM. A multimodality approach using ECG, echocardiography, CMR, cardiac computed tomography (CCT) and cardiac nuclear imaging provides unique information about diagnosis, staging and clinical profiles, anatomical and functional assessment, metabolic evaluation, monitoring of treatment, follow-up, prognosis and risk stratification, as well as preclinical screening and differential diagnosis. HCM may be associated with a normal life expectancy and a very stable clinical course. However, about a third of patients develop heart failure (HF); in addition, 5–15% of cases show progression to either the restrictive or the dilated hypokinetic evolution of HCM, both of which may require evaluation for cardiac transplantation. The clinical course of HCM has been classified into four clinical stages: non-hypertrophic, classic, adverse remodeling and overt dysfunction phenotype. No evidence-based treatments are available for non-hypertrophic HCM patients (pre-hypertrophic stage), on the other hand in classic HCM, adverse remodeling and overt dysfunction phenotype, pharmacological or interventional strategies have the target to improve functional capacity, reduce symptoms, prevent disease progression. Therapeutic approach mainly differs on the basis of the presence or absence of significant obstructive HCM. Adult patients with HCM report an annual incidence for cardiovascular death of 1–2%, with sudden cardiac death (SCD), HF and thromboembolism being the main causes of death; the most commonly recorded fatal arrhythmic event is spontaneous ventricular fibrillation. For this reason, SCD risk estimation is an integral part of clinical management of HCM. International guidelines suggest the evaluation of several risk factor for SCD based on personal and family history, non-invasive testing including echocardiography, ambulatory electrocardiographic 24 hours monitoring and CMR imaging in order to identity those patients most likely to benefit implantable cardioverter-defibrillator (ICD) implantation. The present chapter summarize genetics, pathogenesis, diagnosis, clinical course and therapy of HCM as well as novel therapeutic options.

scholarly journals Native T1 mapping for differential diagnosis of left ventricular hypertrophy

2021 ◽  
Vol 22 (Supplement_2) ◽  
Author(s):  
D Lavall ◽  
NH Vosshage ◽  
S Stoebe ◽  
T Denecke ◽  
A Hagendorff ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Heart Disease ◽  
Hypertrophic Cardiomyopathy ◽  
Cardiac Amyloidosis ◽  
T1 Mapping ◽  
Hypertensive Heart Disease ◽  
Left Ventricular ◽  
Characteristic Analysis ◽  
Native T1 ◽  
Healthy Control

Abstract Funding Acknowledgements Type of funding sources: None. Purpose The aim of this study was to investigate native T1 mapping cardiac magnetic resonance (CMR) tomography for the differential diagnosis of left ventricular (LV) hypertrophy. Background Mapping techniques are useful to characterize myocardial tissue abnormalities, particularly cardiac amyloidosis. However, specific cut-off values to differentiate LV hypertrophic phenotypes on 3.0 tesla CMR scanners have not been established, yet. Methods We retrospectively identified patients in the CMR database of Leipzig university hospital with increased LV wall thickness (≥12mm diameter at end-diastole) who were referred for the evaluation of LV hypertrophy or ischemia between 2017 and 2020 on a 3T scanner (Philips Achieva). Patients with suspected or confirmed myocarditis were excluded. Diagnosis of cardiac amyloidosis was made by either biopsy or non-invasively by bone scintigraphy and screening for monoclonal gammopathy. T1 mapping was measured as global mean value from 3 short axis slices of the LV. Results 128 consecutive patients were included in the study. 31 subjects without evidence of structural heart disease served as healthy control. The final diagnosis was cardiac amyloidosis in 24 patients (5 patients with light-chain, 18 with transthyretin amyloidosis, 1 undetermined), hypertrophic cardiomyopathy in 24, and hypertensive heart disease in 80 patients. Mean age of patients was 65 ± 13years, 84% were male. LV mass was increased in patients with LV hypertrophy compared to healthy control (p < 0.001). Native T1 values of the LV myocardium were higher in patients with cardiac amyloidosis (1409 ± 59ms, p < 0.0001 vs. all other groups) compared to healthy control (1225 ± 21ms), patients with hypertrophic cardiomyopathy (HCM; 1263 ± 43ms) and hypertensive heart disease (HHD; 1257 ± 41ms) (Figure). Patients with hypertrophic cardiomyopathy and hypertensive heart disease did not differ in their native T1 values, but both groups were increased compared to healthy control (p < 0.01). Receiver operating characteristic analysis of native T1 values demonstrated an area under the curve for the detection of cardiac amyloidosis of 0.9954 (p < 0.0001) vs. hypertrophic cardiomyopathy, hypertensive heart disease and healthy control. The optimal cut-off value was 1341ms, with a sensitivity of 100% and a specificity of 97%. Conclusion Native T1 mapping has high diagnostic accuracy for the diagnosis of cardiac amyloidosis among patients with LV hypertrophy. These data need confirmation in a prospective clinical trial. Study ID DRKS00022048

scholarly journals Difficulties in diagnosis and variants of the clinical course of hypertrophic cardiomyopathy in elderly patients

2020 ◽  
Vol 22 (10) ◽  
pp. 34-38
Author(s):  
Natalia S. Krylova ◽  
◽  
Natalia S. Krylova ◽  
Maria Yu. Maslova ◽  
Natalia G. Poteshkina ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Hypertrophic Cardiomyopathy ◽  
Elderly Patients ◽  
Ventricular Hypertrophy ◽  
Myocardial Hypertrophy ◽  
Clinical Course ◽  
Left Ventricular ◽  
Factors Affecting ◽  
Myocardial Contractile ◽  
Genetically Determined

Hypertrophic cardiomyopathy (HCM) is a genetically determined disease with a morphological abnormality of myocardial contractile proteins, manifested by asymmetric left ventricular myocardial hypertrophy. Currently, there is evidence that the HCM incidence rate in the population can be up to 1:200, as opposed to the traditionally quoted 1:500. In early works on HCM, this disease has been mostly perceived as a pathology of young and middle age with a high risk of sudden cardiac death. Now it is generally accepted that patients with HCM are likely to reach the old or even geriatric age subject to the benign course of the disease. Comorbidity in such patients contributes to the clinical aspect of the disease. The article deals with problem areas of HCM diagnostics in elderly patients with an emphasis on differential diagnosis of HCM and left ventricular hypertrophy as part of hypertension. It contains a discussion of differential diagnosis of ischemic heart disease in HCM. The authors also focus on the specifics of the course of HCM in old age patients and present factors affecting the prognosis for this group of patients.

Role of Cardiac MRI in Detecting Familial Hypertrophic Cardiomyopathy: Review

2016 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Marymol Koshy ◽  
Bushra Johari ◽  
Mohd Farhan Hamdan ◽  
Mohammad Hanafiah
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Genetic Disorder ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Non Invasive ◽  
Wide Range ◽  
Proper Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Potential Use

Hypertrophic cardiomyopathy (HCM) is a global disease affecting people of various ethnic origins and both genders. HCM is a genetic disorder with a wide range of symptoms, including the catastrophic presentation of sudden cardiac death. Proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. Non-invasive imaging is essential in diagnosing HCM. We present a review to deliberate the potential use of cardiac magnetic resonance (CMR) imaging in HCM assessment and also identify the risk factors entailed with risk stratification of HCM based on Magnetic Resonance Imaging (MRI).

scholarly journals Current knowledge of Chagas-related heart disease among pediatric cardiologists in the United States

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sanchi Malhotra ◽  
Imran Masood ◽  
Noberto Giglio ◽  
Jay D. Pruetz ◽  
Pia S. Pannaraj
Keyword(s):  
United States ◽  
Differential Diagnosis ◽  
Heart Disease ◽  
Chagas Disease ◽  
Latin American ◽  
Current Knowledge ◽  
Parasitic Infection ◽  
The United States ◽  
Cardiac Complications ◽  
The U.S

Abstract Background Chagas disease is a pathogenic parasitic infection with approximately 8 million cases worldwide and greater than 300,000 cases in the United States (U.S.). Chagas disease can lead to chronic cardiomyopathy and cardiac complications, with variable cardiac presentations in pediatrics making it difficult to recognize. The purpose of our study is to better understand current knowledge and experience with Chagas related heart disease among pediatric cardiologists in the U.S. Methods We prospectively disseminated a 19-question survey to pediatric cardiologists via 3 pediatric cardiology listservs. The survey included questions about demographics, Chagas disease presentation and experience. Results Of 139 responses, 119 cardiologists treat pediatric patients in the U.S. and were included. Most providers (87%) had not seen a case of Chagas disease in their practice; however, 72% also had never tested for it. The majority of knowledge-based questions about Chagas disease cardiac presentations were answered incorrectly, and 85% of providers expressed discomfort with recognizing cardiac presentations in children. Most respondents selected that they would not include Chagas disease on their differential diagnosis for presentations such as conduction anomalies, myocarditis and/or apical aneurysms, but would be more likely to include it if found in a Latin American immigrant. Of respondents, 87% agreed that they would be likely to attend a Chagas disease-related lecture. Conclusions Pediatric cardiologists in the U.S. have seen very few cases of Chagas disease, albeit most have not sent testing or included it in their differential diagnosis. Most individuals agreed that education on Chagas disease would be worth-while.

scholarly journals Lipschütz Ulcer: An Unusual Diagnosis that Should Not be Neglected

2021 ◽  
Vol 43 (05) ◽  
pp. 414-416
Author(s):  
Daniela Alexandra Gonçalves Pereira ◽  
Eliana Patrícia Pereira Teixeira ◽  
Ana Cláudia Martins Lopes ◽  
Ricardo José Pina Sarmento ◽  
Ana Paula Calado Lopes
Keyword(s):  
Emergency Department ◽  
Differential Diagnosis ◽  
Clinical Course ◽  
Malignant Tumors ◽  
Sudden Onset ◽  
Drug Reactions ◽  
Genital Ulceration ◽  
Sexually Transmitted ◽  
Inflammatory Processes ◽  
Genital Ulcers

AbstractThe diagnosis of genital ulcers remains a challenge in clinical practice. Lipschütz ulcer is a non-sexually transmitted rare and, probably, underdiagnosed condition, characterized by the sudden onset of vulvar edema along with painful necrotic ulcerations. Despite its unknown incidence, this seems to be an uncommon entity, with sparse cases reported in the literature. We report the case of an 11-year-old girl who presented at the emergency department with vulvar ulcers. She denied any sexual intercourse. The investigation excluded sexually transmitted infections, so, knowledge of different etiologies of non-venereal ulcers became essential. The differential diagnoses are extensive and include inflammatory processes, drug reactions, trauma, and malignant tumors. Lipschütz ulcer is a diagnosis of exclusion. With the presentation of this case report, the authors aim to describe the etiology, clinical course, and outcomes of this rare disease, to allow differential diagnosis of genital ulceration.

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