Differentiating hypertrophic cardiomyopathy from athlete's heart: An electrocardiographic and echocardiographic approach

Grazioli, Gonzalo; Usín, Domingo; Trucco, Emilce; Sanz, María; Montserrat, Sílvia; Vidal, Bárbara; Gutiérrez, Javier Franch; Canal, R.; Brugada, Josép; Mont, Lluís; Sitges, Marta

doi:10.1016/j.jelectrocard.2016.03.005

Cited by 15 publications

(14 citation statements)

References 32 publications

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“…Adolescents and adults who are active in competitive sports often exhibit significant physiologic cardiac hypertrophy with left ventricular wall thickness between 13 and 18 mm 211 . Given that HCM is the most common cause of SCD in young athletes, distinction between physiological hypertrophy of athletes and pathological hypertrophy of HCM is of considerable importance 212, 213 .…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…Given that HCM is the most common cause of SCD in young athletes, distinction between physiological hypertrophy of athletes and pathological hypertrophy of HCM is of considerable importance 212, 213 . An important distinguishing feature is the size of the left ventricular cavity, which is not enlarged in HCM but is typically enlarged in the physiologic hypertrophy of the athlete’s heart 211, 214 . In addition, the distribution pattern of cardiac hypertrophy with asymmetric septal hypertrophy strongly favors HCM.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…In addition, the distribution pattern of cardiac hypertrophy with asymmetric septal hypertrophy strongly favors HCM. 211, 214–216 Electrocardiographic findings of abnormal Q waves, left atrial enlargement, and prominent repolarization abnormalities are features of HCM and are uncommon in physiological cardiac hypertrophy 214, 217 . Genetic testing (see below) could also be helpful.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

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Hypertrophic Cardiomyopathy

Marian

Braunwald

2017

Circulation Research

892

533

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Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes, and a non-dilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetric with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients, and can be provoked in another third. The histologic features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis. The hypertrophy is also frequently associated with left ventricular diastolic dysfunction. In the majority of patients, HCM has a relatively benign course. However, HCM is also an important cause of sudden cardiac death, particularly in adolescents and young adults. Nonsustained ventricular tachycardia, syncope, a family history of sudden cardiac death, and severe cardiac hypertrophy are major risk factors for sudden cardiac death. This complication can usually be averted by implantation of a cardioverter-defibrillator in appropriate high-risk patients. Atrial fibrillation is also a common complication and is not well tolerated. Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding β-myosin heavy chain and myosin binding protein C, respectively, are the two most common genes involved, together accounting for about 50% of the HCM families. In approximately 40% of HCM patients the causal genes remain to be identified. Mutations in genes responsible for storage diseases also cause a phenotype resembling HCM (genocopy or phenocopy). The routine applications of genetic testing and preclinical identification of family members represents an important advance. The genetic discoveries have enhanced understanding of the molecular pathogenesis of HCM and have stimulated efforts designed to identify new therapeutic agents.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Clinical Manifestationsmentioning

confidence: 99%

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Hypertrophic Cardiomyopathy

Marian

Braunwald

2017

Circulation Research

892

533

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“…Z punktu widzenia medycyny sportowej szczególnie istotne jest różnicowanie od serca sportowego, czyli dostosowania do treningu wyczynowego. Podstawowe cechy różnicujące przedstawiono w tabeli 6 [21].…”

Section: Hcm and Sportunclassified

The most common causes of sudden cardiac death in athletes

Świerkosz¹,

Nowak²,

Pacyna³

2015

Physiotherapy

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StreszczenieSport wyczynowy wywołuje fi zjologiczne zmiany zwane sercem sportowca. W większości przypadków parametry echokardiografi czne serca po zakończeniu kariery wracają do normy. Nagły zgon sercowy może wystąpić zarówno u osób ze znaną lub nieznaną choroba serca. Śmiertelność wynosi 1-3 osoby/100 000. Główne przyczyny zgonów to kardiomiopatia przerostowa i wstrząśnienie serca. W kardiomiopatii unaczynienie wieńcowe nie zwiększa się proporcjonalnie do masy serca. Dlatego w sytuacji ekstremalnych wysiłków obszary gorzej ukrwione mogą powodować groźne zaburzenia rytmu. Wstrząśnienie serca jest spowodowane tępym urazem klatki piersiowej, który wywołuje migotanie komór i zatrzymanie akcji serca bez uszkodzeń strukturalnych.Słowa kluczowe: nagły zgon sercowy, serce sportowca, kardiomiopatia przerostowa, wstrząśnienie serca Abstract AbstractCompetitive sport causes physiological changes called athlete's heart. In most cases echocardiographic parameters return to normal after cessation of career. Sudden cardiac death may occur in persons with previously diagnosed or undiagnosed heart disease. Mortality is 1-3 people/100,000. The main reasons for death is hypertrophic cardiomyopathy and commotio cordis. In cardiomyopathy coronary vasculature does not increase proportionately to heart mass. In the case of extreme physical effort areas of poor blood supply can cause dangerous arrhythmias. Commotio cordis is caused by by blunt trauma to the thorax, which induces ventricular fi brillation and cardiac arrest without structural damage.Keywords: sudden cardiac death, athlete's heart, hypertrophic cardiomyopathy, commotio cordis WprowadzenieSport wpływa na wiele aspektów naszego życia, wywołując korzyści zarówno w sferze fi zyczno-zdrowotnej, jak i psychiczno-społecznej. Wysiłek fi zyczny towarzyszy ludzkości od początku dziejów aż do dziś. Rywalizacja fascynuje czło-wieka, a "chwała" i nagrody związane ze zwycięstwem przyciągają do uprawiania różnych dyscyplin sportu. Sport kwalifi kowany to przede wszystkim wielogodzinny, systematyczny trening i wysiłek przekraczający niejednokrotnie możliwości młodego organizmu. Efektem tego są zmiany ze strony ukła-du krążenia, szczególnie mięśnia sercowego, mające charakter adaptacyjny. Serce sportowca jako konsekwencja tych zmian to fizjologiczna reakcja morfologiczna i czynnościowa układu na wzmożony wysiłek fi zyczny. Zjawiskami tymi zajmuje się dziedzina medycyny, jaką jest kardiologia sportowa. Głów-nym jej zadaniem jest między innymi zapobieganie nagłym zgonom sercowym wśród osób zajmujących się uprawianiem sportu [1]. Zjawisko to było w ostatnich latach dość często spotykane, czy to podczas treningu, czy samych zawodów sportowych. Jak wynika z najnowszych opracowań włoskich naukowców, tendencja ta ulega jednak stopnio-

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“…Genetic analysis is also useful to confirm the diagnosis of HCM in ambiguous situations. For example, because HCM is the most common cause of sudden cardiac death in young athletes, who often exhibit left ventricular wall thicknesses between 13 and 18 mm [11], it is critical to distinguish the physiological hypertrophy of athletes from the pathological hypertrophy of HCM. On the other hand, a positive test supports an HCM diagnosis in individuals with a septal thickness below the cutoff point for clinical diagnosis [12,13].…”

Section: Introductionmentioning

confidence: 99%

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

Ribeiro

Furtado

Martins

et al. 2020

IJMS

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Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that encode sarcomere-associated proteins. Effective gene-based diagnosis is critical for the accurate clinical management of patients and their family members. However, the introduction of high-throughput DNA sequencing approaches for clinical diagnostics has vastly expanded the number of variants of uncertain significance, leading to many inconclusive results that limit the clinical utility of genetic testing. More recently, developments in RNA analysis have been improving diagnostic outcomes by identifying new variants that interfere with splicing. This review summarizes recent discoveries of RNA mis-splicing in HCM and provides an overview of research that aims to apply the concept of RNA therapeutics to HCM.

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Differentiating hypertrophic cardiomyopathy from athlete's heart: An electrocardiographic and echocardiographic approach

Cited by 15 publications

References 32 publications

Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

The most common causes of sudden cardiac death in athletes

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

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