Publications by authors named "Amy Marzolf"

MYH7, encoding the myosin heavy chain sarcomeric β-myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally, families with left ventricular noncompaction cardiomyopathy (LVNC) and congenital heart disease (CHD), typically septal defects or Ebstein anomaly, have been identified to have heterozygous pathogenic variants in MHY7. One previous case of single ventricle CHD with heart failure due to a MYH7 variant has been identified.

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Many cardiovascular disorders have underlying genetic causes. Clinical genetic testing for cardiovascular disease has become widely available and can be useful for diagnosis, management, and cascade screening in selected conditions and circumstances. This article gives an overview of the current state of genetic testing in inherited cardiovascular conditions, who can benefit from it, and the associated challenges.

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Background: Variants in the desmoplakin () gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in has also been associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding the cardiac phenotypes associated with genetic variation in have been largely accumulated from phenotype-first studies of ARVC.

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Background: Hypertrophic cardiomyopathy (HCM) in pediatric solid organ transplant recipients has been reported in association with use of calcineurin inhibitors. However, data on the incidence and prevalence of HCM in adult posttransplant patients are limited. We sought to describe the clinical characteristics of solid organ transplant recipients who were diagnosed with HCM from 2011 to 2021 at a single center.

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Lamin A/C cardiac disease is a genetic cardiomyopathy and arrhythmia syndrome caused by alterations in the function of the nuclear lamin A and C proteins. It is inherited in an autosomal dominant manner and usually presents in mid- to late adulthood with atrioventricular conduction abnormalities, atrial and ventricular arrhythmias, biventricular dysfunction, and advanced heart failure. While rare, women of childbearing age can exhibit an aggressive disease course, and appropriate risk stratification and management are critical.

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It is well known that cardiac amyloidosis and hypertrophic cardiomyopathy (HCM) have different physiologies and pathologies. However, it might be difficult to differentiate cardiac amyloidosis from HCM in certain clinical situations.

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Background: Sleep dysfunction contributes to poor quality of life in adults with heart failure (HF). The purpose of this study was to identify factors associated with sleep dysfunction that may be modifiable.

Methods: Data were collected from 266 subjects enrolled from three sites in the U.

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