Electrocardiographic Features of Sarcomere Mutation Carriers With and Without Clinically Overt Hypertrophic Cardiomyopathy

Lakdawala, Neal K.; Thune, Jens Jakob; Maron, Barry J.; Cirino, Allison L.; Havndrup, Ole; Bundgaard, Henning; Christiansen, Michael; Carlsen, Christian Malchau; Dorval, Jean-François; Kwong, Raymond Y.; Colan, Steven D.; Køber, Lars; Ho, Carolyn Y.

doi:10.1016/j.amjcard.2011.07.019

Cited by 78 publications

(62 citation statements)

References 30 publications

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“…Elevated EF 21,39,40 and hypercontractility 41 have been previously documented, but diastolic 42 and systolic dysfunction 43 have also been seen, although the latter may have been attributable to myocardial scar, 43 whereas our carriers were entirely free of scar. Elongation of the AMVL was also confirmed.…”

Section: Discussionmentioning

confidence: 85%

Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy

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Lopes

Patel

et al. 2014

Circ Cardiovasc Genet

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Section: Discussionmentioning

confidence: 85%

Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy

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Lopes

Patel

et al. 2014

Circ Cardiovasc Genet

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“…De acordo com Bacharova (2009), Bender et al (2012 e Rowin et al (2012), o ECG apresenta baixa sensibilidade na detecção de sobrecargas e há baixa correlação entre a amplitude do QRS e o grau de hipertrofia. Porém, o ECG apresenta boa especificidade no diagnóstico de hipertrofia ventricular em humanos (Lakdawala et al 2011).…”

Section: Discussionunclassified

“…Desta forma, a sensibilidade do ECG em detectar sobrecarga ventricular esquerda foi de 31,25% e a especificidade de 97,72%, com acurácia de 80%. De acordo com Lakdawala et al (2011), o ECG apresenta boa especificidade mas baixa sensibilidade em detectar aumentos ventriculares. Em humanos, o diagnóstico eletrocardiográfico de hipertrofia ventricular é baseado no aumento da voltagem dos complexos QRS em diferentes derivações (Murphy et al 1985, Konno et al 2005, Bacharova 2009); e a combinação destes critérios pode aumentar a sensibilidade do método, permitindo seu uso como exame de triagem com maior segurança.…”

Section: Discussionunclassified

“…Sensibilidade e especificidade do exame eletrocardiográfico na detecção de sobrecargas atriais e/ou ventriculares em gatos veis e muitas vezes inespecíficas, mas comumente observadas em humanos carreadores de mutação antes mesmo da hipertrofia ventricular (Ryan et al 1995, Konno et al 2005, Lakdawala et al 2011, Mattos et al 2013. O ECG, em humanos, pode ser um sensível indicador da doença e uma ferramenta útil para a pesquisa da afecção em indivíduos de famílias acometidas (Namdar et al 2012).…”

Section: Introductionunclassified

“…A sensibilidade do ECG em identificar a CMH pode estar relacionada às alterações de condução elétrica decorrentes do desarranjo dos miócitos e miofibrilas, enquanto que o ecocardiograma permite conclusão diagnós-tica apenas na ocorrência de hipertrofia ventricular (Ryan et al 1995, Song et al 2013. Porém, segundo Lakdawala et al (2011), o ECG mostrou boa especificidade mas baixa sensibilidade para diagnóstico da mutação, antes da hipertrofia ventricular.…”

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Sensibilidade e especificidade do exame eletrocardiográfico na detecção de sobrecargas atriais e/ou ventriculares em gatos da raça Persa com cardiomiopatia hipertrófica

et al. 2016

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ABSTRACT.-Pellegrino A., Daniel A.G.T., Pessoa R., Guerra J.M., Lucca G. Hypertrophic cardiomyopathy (HCM) is the most common feline heart disease and is characterized by increased cardiac mass with a hypertrophied and not dilated left ventricle. The echocardiography is the best noninvasive diagnostic tool for the differentiation of cardiomyopathies and is considered the gold standard for detection of ventricular hypertrophy present in HCM. Electrocardiographic changes are also common in animals with HCM and the electrocardiogram (ECG) is quick, easy and highly available screening test for the detection of ventricular hypertrophy in humans. In cats, few studies have been conducted regarding the sensitivity and specificity of ECG in detecting ventricular hypertrophy. With the intention of evaluating the use of ECG as a screening tool for diagnosis of HCM in cats, Persian cats (n=82) were evaluated by echocardiographic and electrocardiographic examinations. Animals with blocks and/or conduction disturbances were excluded from statistical analysis (n=22). Subsequently the animals included were classified as normal (n=38), suspicious (n=6) and affected by HCM (n=16). Statistical differences were observed in the P-wave amplitude in DII and R-wave amplitude in DII, CV6LL and CV6LU, with higher values in animals with HCM. Velocities and pressure gradient of aortic flow, left atrial diameter (LA) and LA/Ao ratio were higher in cats with HCM. Among the animals with ECG changes suggestive of left atrial enlargement (n=7), only two actually had LA enlargement on echocardiography, and among animals with left atrial enlargement on echocardiogram (n=7), only two had ECG changes suggestive of overload AE (40,4% of sensibility and 90,9% of specificity). Among the animals with ECG changes suggestive of left ventricular hypertrophy (n=6), five actually had ventricular hypertrophy on echocardiography, and among animals with HCM by echocardiography (n=16), only five showed electrocardiographic abnormalities suggestive of LV hypertrophy (31,25% of sensibility and 97,72% of 1 Recebido em 6 de abril de 2015.Aceito para publicação em 2 de fevereiro de 2016.

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The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers

Day

Colan

et al. 2017

JAMA Cardiol

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Importance Sarcomere mutations and left ventricular hypertrophy (LVH) are cardinal features of hypertrophic cardiomyopathy (HCM). However, little is known about the full spectrum of phenotypic manifestations, or how LVH impacts disease expression. Objective Genotyped individuals with or at risk for HCM were studied to: (1) characterize sarcomere mutation carriers (G+), including assessing collective phenotypic burden; and (2) investigate the relationship between left ventricular wall thickness (LVWT) and other disease features. Design Cross-sectional multicenter observational study Setting Network of hypertrophic cardiomyopathy specialty clinical centers (HCMNet). Participants Mutation carriers with LVH (G+/LVH+), without LVH (G+/LVH-), and healthy related controls (G-/LVH-) were enrolled through HCMNet sites. A total of 193 participants were enrolled and underwent study procedures. Analyses were performed on 178 participants (G+/LVH+ n=81, G+/LVH- n=55, G-/LVH- n=42) with mean age 26.9, 20.4 and 17.5 years, respectively. Exposure The primary stratifying variables were the presence of a sarcomere mutation and measures of LV wall thickness. Main Outcomes and Measures Parameters from standardized exercise testing, echocardiography, cardiac magnetic resonance, serum biomarker measurement, and electrocardiography (ECG) were compared across study cohorts. Results G+/LVH- subjects had smaller LV cavity size and higher LV wall thickness (LVWT):diastolic diameter ratio and LV ejection fraction than controls. Phenotypic burden was determined as the cumulative number of 7 traits (ECG changes; decreased LV systolic, diastolic diameter, or septal E′; higher LVWT:diameter ratio; serum troponin, natriuretic peptide levels) in each individual. Mean burden was 4.9 in G+/LVH+, 2.4 in G+/LVH-, and 1.3 in controls (p<0.001). Classification and regression tree analysis identified an LVEDD z-score < -1.85 or the combination of LVEDD z-score ≥ -1.85 and Septal E′ z-score < -0.52 as having 74% accuracy in discriminating G+/LVH- subjects from controls. In mutation carriers, these traits and other parameters demonstrated a continuous relationship with LVWT; generally without clear cutoff signifying pathologic transition. Conclusions and Relevance G+/LVH- individuals demonstrate altered cardiac dimensions and function and higher burden of early phenotypes. Two methods discriminated phenotypic subgroups – a sum across seven criteria and a tree-based rule that identifies constellations of distinguishing factors. Greater LVWT is associated with more prominent cardiac abnormalities in a continuous, although not always linear manner. A single value of LVWT could not dichotomize the presence or absence of disease.

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Electrocardiographic Features of Sarcomere Mutation Carriers With and Without Clinically Overt Hypertrophic Cardiomyopathy

Cited by 78 publications

References 30 publications

Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy

Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy

Sensibilidade e especificidade do exame eletrocardiográfico na detecção de sobrecargas atriais e/ou ventriculares em gatos da raça Persa com cardiomiopatia hipertrófica

The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers

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