Clinical and Genetics Aspects of Unexplained Left Ventricular Hypertrophy

A special issue of Cardiogenetics (ISSN 2035-8148).

Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 9390

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Guest Editor
Department of Advanced Medical Sciences, Universita' Federico II, Naples, Italy
Interests: hypertrophic cardiomyopathy; aortic stenosis; echocardiography; heart failure; arterial hypertension
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Special Issue Information

Dear Colleagues,

The correct etiology of left ventricular hypertrophy (LVH) is often challenging for even the most experienced physicians. The 2020 AHA guidelines defined HCM as a disease in which morphologic expression is confined solely to the heart; it is characterized predominantly by LVH in the absence of another cardiac, systemic, or metabolic disease capable of producing the magnitude of hypertrophy evident in a given patient and for which a disease-causing sarcomere (or sarcomere-related) variant is identified, or the genetic etiology remains unresolved. However, as suggested by the 2007 ESC position paper, distinguishing primary and secondary disorders is not an easy matter, in that many of the primary LVHs can be associated with major extracardiac manifestations; additionally, the pathology in many of the diseases classified as secondary LVHs can predominantly (or exclusively) involve the heart. Hence, the first approach to LVH is done by physicians, that should orient not only biochemical and instrumental analyses but also genetic testing. Of note, the cost of excluding overall causes of LVH sine causa, before using genetics, is not feasible. In addition, genetics should be interpreted in the context of the clinical picture in a given patient. To clarify some of these steps, we have launched this Special Issue, inviting investigators to contribute with original research articles as well as review articles focusing on the understanding of clinical, and genetic approaches to LVH sine causa.

Prof. Dr. Maria Losi
Guest Editor

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Keywords

  • aortic stenosis
  • arterial hypertension
  • echocardiography
  • heart failure
  • hypertrophic cardiomyopathy
  • inherited heart disease

Published Papers (2 papers)

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Review

14 pages, 1610 KiB  
Review
Sarcomeric versus Non-Sarcomeric HCM
by Felice Borrelli, Maria Angela Losi, Grazia Canciello, Gaetano Todde, Errico Federico Perillo, Leopoldo Ordine, Giulia Frisso, Giovanni Esposito and Raffaella Lombardi
Cardiogenetics 2023, 13(2), 92-105; https://doi.org/10.3390/cardiogenetics13020009 - 2 Jun 2023
Cited by 2 | Viewed by 3962
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is [...] Read more.
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is identified in genes encoding sarcomere proteins. According to the results of genetic screening, HCM patients are currently categorized in two main sub-populations: sarcomeric-positive (Sarc+) patients, in whom the causal mutation is identified in a sarcomeric gene; and sarcomeric-negative (Sarc−) patients, in whom a causal mutation has not been identified. In rare cases, Sarc− HCM cases may be caused by pathogenic variants in non-sarcomeric genes. The aim of this review is to describe the differences in the phenotypic expression and clinical outcomes of Sarc+ and Sarc− HCM and to briefly discuss the current knowledge about HCM caused by rare non-sarcomeric mutations. Full article
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17 pages, 4516 KiB  
Review
Diagnosis and Treatment of Obstructive Hypertrophic Cardiomyopathy
by Gaetano Todde, Grazia Canciello, Felice Borrelli, Errico Federico Perillo, Giovanni Esposito, Raffaella Lombardi and Maria Angela Losi
Cardiogenetics 2023, 13(2), 75-91; https://doi.org/10.3390/cardiogenetics13020008 - 15 May 2023
Cited by 2 | Viewed by 4406
Abstract
Left ventricular outflow obstruction (LVOTO) and diastolic dysfunction are the main pathophysiological characteristics of hypertrophic cardiomyopathy (HCM)LVOTO, may be identified in more than half of HCM patients and represents an important determinant of symptoms and a predictor of worse prognosis. This review aims [...] Read more.
Left ventricular outflow obstruction (LVOTO) and diastolic dysfunction are the main pathophysiological characteristics of hypertrophic cardiomyopathy (HCM)LVOTO, may be identified in more than half of HCM patients and represents an important determinant of symptoms and a predictor of worse prognosis. This review aims to clarify the LVOTO mechanism in, diagnosis of, and therapeutic strategies for patients with obstructive HCM. Full article
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