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Cardiogenetics, Volume 11, Issue 1 (March 2021) – 5 articles

Cover Story (view full-size image): Cardiac amyloidosis is the result of extracellular deposition of amyloid fibrils throughout the heart. Treatment success mostly depends on early diagnosis for AL amyloidosis, while for ATTR amyloidosis, new investigational agents are being studied that can reduce production of transthyretin protein. This review aimed to investigate the current understanding and new research on cardiac amyloidosis new treatment strategies and their clinical outcome. View this paper
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Case Report
Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report
Cardiogenetics 2021, 11(1), 31-38; https://0-doi-org.brum.beds.ac.uk/10.3390/cardiogenetics11010005 - 05 Mar 2021
Viewed by 737
Abstract
Hypertrophic cardiomyopathy and left ventricular noncompaction commonly occur as separate disorders with distinct clinical and pathoanatomical features. However, these cardiomyopathies may have a similar genetic origin with mutations encoding sarcomeric proteins. The described case report demonstrates an example in which phenotypic expression of [...] Read more.
Hypertrophic cardiomyopathy and left ventricular noncompaction commonly occur as separate disorders with distinct clinical and pathoanatomical features. However, these cardiomyopathies may have a similar genetic origin with mutations encoding sarcomeric proteins. The described case report demonstrates an example in which phenotypic expression of both diseases occurred in the same patient, who has two different alterations; one of them is a likely pathogenic variant in the MYL3 gene (MIM#160790) and the second variant in the MYH6 gene (MIM#160710) of unknown significance so far. To better understand associations between specific genetic variants and phenotypical expression of these genetic alterations and to stratify patient risk and decide on the most appropriate treatment, a comprehensive multimodality imaging approach and experienced multidisciplinary cardiomyopathy team decisions are warranted. In the clinical routine, awareness of the existence of complex cardiomyopathy phenotypes should be paid more attention during echocardiographic examination and should encourage a broader use of cardiovascular magnetic resonance. Full article
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
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Editorial
Genetic Susceptibility to SARS-CoV-2: From the Nehandertal Age to 2020
Cardiogenetics 2021, 11(1), 28-30; https://0-doi-org.brum.beds.ac.uk/10.3390/cardiogenetics11010004 - 25 Feb 2021
Viewed by 457
Abstract
Since late 2019, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its associated coronavirus disease 2019 (COVID-19) have become a worldwide threat to public health [...] Full article
Case Report
Three Myocardial Diseases in One Heart: Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Noncompaction and Myocarditis
Cardiogenetics 2021, 11(1), 18-27; https://0-doi-org.brum.beds.ac.uk/10.3390/cardiogenetics11010003 - 10 Feb 2021
Viewed by 782
Abstract
Purpose: To evaluate the clinical features, laboratory and instrumental tests results and the effectiveness of complex treatment in a patient with multiple etiologies of dilated cardiomyopathy (DCM) with a high risk of sudden cardiac death. Methods: Female patient was 34 years old. Follow [...] Read more.
Purpose: To evaluate the clinical features, laboratory and instrumental tests results and the effectiveness of complex treatment in a patient with multiple etiologies of dilated cardiomyopathy (DCM) with a high risk of sudden cardiac death. Methods: Female patient was 34 years old. Follow up period was seven years. Since the age of 23 (after a respiratory infection), chest pains and shortness of breath appeared. Coronary arteries were intact. After syncope in 2013, Holter-ECG was performed: 2048 premature ventricular beats (PVBs)/day and episode of sustained ventricular tachycardia (VT, 1 min) were registered. MRI was performed, and a cardioverter defibrillator (ICD) was implanted. Results: ECG showed low QRS voltage and negative T waves in leads V2-V6, III, aVF. In signal-averaged ECG, late potentials were detected. Echocardiography (EchoCG) demonstrated left and right ventricular dilatation, diffuse reduction of left ventricular (LV) contractility and multiple pseudochordae in LV. MRI showed LV noncompaction (LVNC), thickening of the epicardial fat and hypo-/dyskinesia of the anterior wall of the right ventricular (RV), dilatation of both ventricles with decrease of their ejection fraction and subepicardial gadolinium enhancement in the early and late phase in the LV, intraventricular septum and the free walls of the RV. The presence of LVNC was confirmed by cardiac computed tomography (CT). Late contrast enhancement in the middle and subendocardial layer of the LV was observed as well. The level of anticardiac antibodies was high (1:160–1:320). The reasons for statement of a possible diagnosis of myocarditis in this case were the connection of the onset of symptoms with viral infection, high titers of anticardiac antibodies, and early and late subepicardial contrast enhancement by MRI and CT. The endomyocardial biopsy was obtained, and subendocardial lipomatosis, separation of myocardium by fibrous septa, lymphocytic infiltrates (more than 14 cells/mm2) and vasculitis were found. Viral genome in myocardium was not detected. A new splicing mutation in the desmoplakin (DSP) gene was found (NM_004415.4: c.1141-2A>G/N (rs794728111)). Combination of arrhythmogenic right ventricular cardiomyopathy (ARVC), LVNC and myocarditis was diagnosed. Immunosuppressive therapy (prednisone and azathioprine) was prescribed, LV ejection fraction stabilized at the level of 40%. The appropriate shocks of the ICD due to sustainedVT (HR 210/min) with transformation into ventricular fibrillation were recorded twice. For this reason, sotalol was temporarily replaced with amiodarone. After the suppression of myocarditis activity, sustained VT and ICD interventions were not observed. Conclusions: In a young patient with arrhythmogenic syncope and DCM syndrome, a combination of ARVC (two major and three minor criteria, definite diagnosis) and LVNC with the biopsy proved virus-negative chronic myocarditis was diagnosed. DCM as a syndrome can have multiple causes, and the combination of myocarditis and primary cardiomyopathy is not rare. LVNC can be observed in patients with typical desmosomal protein mutations. The use of immunosuppressive therapy led to the stabilization of heart failure and decreased the risk of arrhythmic events. Full article
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Communication
Cardiac Amyloidosis Therapy: A Systematic Review
Cardiogenetics 2021, 11(1), 10-17; https://0-doi-org.brum.beds.ac.uk/10.3390/cardiogenetics11010002 - 31 Jan 2021
Viewed by 845
Abstract
Heart involvement in Cardiac Amyloidosis (CA) results in a worsening of the prognosis in almost all patients with both light-chain (AL) and transthyretin amyloidosis (ATTR). The mainstream CA is a restrictive cardiomyopathy with hypertrophic phenotype at cardiac imaging that clinically leads to heart [...] Read more.
Heart involvement in Cardiac Amyloidosis (CA) results in a worsening of the prognosis in almost all patients with both light-chain (AL) and transthyretin amyloidosis (ATTR). The mainstream CA is a restrictive cardiomyopathy with hypertrophic phenotype at cardiac imaging that clinically leads to heart failure with preserved ejection fraction (HFpEF). An early diagnosis is essential to reduce cardiac damage and to improve the prognosis. Many therapies are available, but most of them have late benefits to cardiac function; for this reason, novel therapies are going to come soon. Full article
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Case Report
Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy
Cardiogenetics 2021, 11(1), 1-9; https://0-doi-org.brum.beds.ac.uk/10.3390/cardiogenetics11010001 - 31 Dec 2020
Cited by 1 | Viewed by 1159
Abstract
We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.(Arg301Ter). Usually, males with Fabry disease due [...] Read more.
We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.(Arg301Ter). Usually, males with Fabry disease due to loss of function variants in GLA show symptoms of the multisystemic features of the condition early in life, and have very low levels of the α-Gal A enzyme. This demonstrates that the diagnosis of Fabry disease in males with cardiomyopathy should still be considered even in the context of a normal plasma enzyme assay. Full article
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