Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of kn...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Emanuele Monda, Michele Lioncino, Marta Rubino, Silvia Passantino, Federica Verrillo, Martina Caiazza, Annapaola Cirillo, Adelaide Fusco, Francesco Di Fraia, Fabio Fimiani, Federica Amodio, Nunzia Borrelli, Alfredo Mauriello, Francesco Natale, Gioacchino Source Type: research
Hypertrophic Cardiomyopathy in RASopathies
RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ( “red flags”) which may direct the clinician toward a specific gene test. Compared with sarcomeric hypertrophic cardiomyopathy, hypertrophic cardiomyopathy in RASopathies (R-HCM) is associated with higher prevalence of congestive heart failure and shows increased prevalence and severity of left v entricular outflow tract obstruction. Biventricular involvement and the association with congenital heart disease, mainly pulmonary...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Michele Lioncino, Emanuele Monda, Federica Verrillo, Elisabetta Moscarella, Giulio Calcagni, Fabrizio Drago, Bruno Marino, Maria Cristina Digilio, Carolina Putotto, Paolo Calabr ò, Maria Giovanna Russo, Amy E. Roberts, Bruce D. Gelb, Marco Tartaglia, Giu Source Type: research
Diagnosis and Management of Cardiovascular Involvement in Fabry Disease
Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Marta Rubino, Emanuele Monda, Michele Lioncino, Martina Caiazza, Giuseppe Palmiero, Francesca Dongiglio, Adelaide Fusco, Annapaola Cirillo, Arturo Cesaro, Laura Capodicasa, Marialuisa Mazzella, Flavia Chiosi, Paolo Orabona, Eduardo Bossone, Paolo Calabr Source Type: research
Cardiovascular Involvement in Transthyretin Cardiac Amyloidosis
Transthyretin cardiac amyloidosis (ATTR-CA) is a systemic disorder resulting from the extracellular deposition of amyloid fibrils of misfolded transthyretin protein in the heart. ATTR-CA is a life-threatening disease, which can be caused by progressive deposition of wild type transthyretin (wtATTR) or by aggregation of an inherited mutated variant of transthyretin (mATTR). mATTR Is a rare condition transmitted in an autosomal dominant manner with incomplete penetrance, causing heterogenous phenotypes which can range from predominant neuropathic involvement, predominant cardiomyopathy, or mixed. Diagnosis of ATTR-CA is comp...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Michele Lioncino, Emanuele Monda, Giuseppe Palmiero, Martina Caiazza, Erica Vetrano, Marta Rubino, Augusto Esposito, Gemma Salerno, Francesca Dongiglio, Barbara D ’Onofrio, Federica Verrillo, Giuseppe Cerciello, Fiore Manganelli, Giuseppe Pacileo, Eduar Source Type: research
The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies
The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan syndrome, LDS' cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis. The EDS are currently classified into thirteen subtypes. There is substantial symptoms overlap between the EDS subtypes, and they are associated with an increased incidence of cardiovascular abnormalities, such as mitral v...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Adelaide Fusco, Alfredo Mauriello, Michele Lioncino, Giuseppe Palmiero, Fiorella Fratta, Chiara Granato, Annapaola Cirillo, Martina Caiazza, Emanuele Monda, Antonello Credendino, Giovanni Signore, Francesco Natale, Flavia Chiosi, Gioacchino Scarano, Aless Source Type: research
Clinical Manifestations of 22q11.2 Deletion Syndrome
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations,...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Annapaolo Cirillo, Michele Lioncino, Annachiara Maratea, Annalisa Passariello, Adelaide Fusco, Fiorella Fratta, Emanuele Monda, Martina Caiazza, Giovanni Signore, Augusto Esposito, Anwar Baban, Paolo Versacci, Carolina Putotto, Bruno Marino, Claudio Pigna Source Type: research
The Role of New Imaging Technologies in the Diagnosis of Cardiac Amyloidosis
Cardiac amyloidosis is an infiltrative disorder caused by transthyretin or immunoglobulin free light-chain deposition, which determines clinical disease with similar phenotype but different time course, prognosis and therapy. Multimodality imaging is the cornerstone for disease diagnosis and management. Multimodality imaging has revolutionized the approach to the disease favoring its awareness and simplifying its diagnosis, especially in ATTR cardiac amyloidosis. This describes the different imaging tools, from the traditional to the more novel ones, and highlights the different approach in each different setting (prognosi...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Giuseppe Palmiero, Erica Vetrano, Marta Rubino, Emanuele Monda, Francesca Dongiglio, Michele Lioncino, Francesco Di Fraia, Martina Caiazza, Federica Verrillo, Laura Capodicasa, Giuseppe Cerciello, Fiore Manganelli, Mara Catalano, Davide D'Arienzo, Maria L Source Type: research
Epidemiology, Pathogenesis, and Clinical Course of Takotsubo Syndrome
Takotsubo syndrome is an acute reversible heart failure syndrome, most frequently seen in postmenopausal women and precipitated generally by significant emotional stress or physical illness. A sudden sympathetic activation seems to play a key role in the pathophysiology, but growing evidence is emerging about the role of inflammation in the subacute and chronic phases. An incidence of life-threatening complications occurring in the acute phase and at long-term follow-up has been demonstrated, comparable with the acute coronary syndrome. Multimodality imaging could be useful to stratify in-hospital and long-term prognosis. ...
Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Rodolfo Citro, Ilaria Radano, Michele Bellino, Ciro Mauro, Hiroyuky Okura, Eduardo Bossone, Yoshihiro J. Akashy Source Type: research
The Risk of Sudden Unexpected Cardiac Death in Children
“Sudden unexplained death (SUD) is a tragic event for both the family and community, particularly when it occurs in young individuals. Sudden cardiac death (SCD) represents the leading form of SUD and is defined as an unexpected event without an obvious extracardiac cause, occurring within 1 hour after the onset of symptoms. In children, the main causes of SCD are inherited cardiac disorders, whereas coronary artery diseases (congenital or acquired), congenital heart diseases, and myocarditis are rare. The present review examines the current state of knowledge regarding SCD in children, dis cussing the epidemiology, cli...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Emanuele Monda, Michele Lioncino, Marta Rubino, Martina Caiazza, Annapaola Cirillo, Adelaide Fusco, Roberta Pacileo, Fabio Fimiani, Federica Amodio, Nunzia Borrelli, Diego Colonna, Barbara D ’Onofrio, Giulia Frisso, Fabrizio Drago, Silvia Castelletti, B Source Type: research
New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising in...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Arturo Cesaro, Fabio Fimiani, Felice Gragnano, Elisabetta Moscarella, Alessandra Schiavo, Andrea Vergara, Leo Akioyamen, Laura D ’Erasmo, Maurizio Averna, Marcello Arca, Paolo Calabrò Source Type: research
Clinical and Molecular Aspects of Naxos Disease
Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage. “Myocarditis-like episodes” may step up the disease evolution or mark a transition from concealed to symptomatic cardiomyopathy phase. Arrhythmogenic cardiomyopathy in Naxos disea...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Ioannis Protonotarios, Angeliki Asimaki, Zafeirenia Xylouri, Alexandros Protonotarios, Adalena Tsatsopoulou Source Type: research
The Arrhythmic Phenotype in Cardiomyopathy
In the wide phenotypic spectrum of cardiomyopathies, sudden cardiac death (SCD) has always been the most visible and devastating disease complication. The introduction of implantable cardioverter-defibrillators for SCD prevention by the late 1980s has moved the question from how to whom we should protect from SCD, leaving clinicians with a measure of uncertainty regarding the most reliable option to guide identification of the highest-risk patients. In this review, we will go through all the available evidence in the field of arrhythmic expression and arrhythmic risk stratification in the different phenotypes of cardiomyop...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Marco Merlo, Giulia Grilli, Chiara Cappelletto, Marco Mas é, Aldostefano Porcari, Matteo Dal Ferro, Marta Gigli, Davide Stolfo, Massimo Zecchin, Antonio De Luca, Luisa Mestroni, Gianfranco Sinagra Source Type: research
The Risk of Sudden Death in Children with Hypertrophic Cardiomyopathy
This article describes the pathophysiology, risk factors, and approach to risk stratification for SCD in childhood HCM and highlights unanswered questions. (Source: Heart Failure Clinics)
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Gabrielle Norrish, Juan Pablo Kaski Source Type: research
The Influence of Genotype on the Phenotype, Clinical Course, and Risk of Adverse Events in Children with Hypertrophic Cardiomyopathy
Genetic testing in children with hypertrophic cardiomyopathy (HCM) can modify clinical management and lifestyle counseling. However, predicting long-term outcome and response to management in individual patients remains challenging, because of the peculiar genetic heterogeneity of the disease in the pediatric age range. Children with HCM secondary to an inborn error of metabolism or malformation syndromes tend to have a worse outcome compared with those with the classic sarcomeric form. Among the latter, adverse genetic features are represented by the identification of a pathogenic variant in MYH7, often associated with se...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Francesca Girolami, Silvia Passantino, Federica Verrillo, Eszter Dalma Palinkas, Giuseppe Limongelli, Silvia Favilli, Iacopo Olivotto Source Type: research
Spontaneous Coronary Artery Dissection
Spontaneous coronary artery dissection is an infrequent cause of acute coronary syndrome with comparable clinical features. Previously considered a rare disease, recent scientific interest has revealed spontaneous coronary artery dissection as an important differential diagnosis of acute coronary syndrome, especially in young women, during pregnancy or postpartum, and in patients with fibromuscular dysplasia or other arteriopathies. However, there remain many uncertainties regarding pathophysiology, risk factors, acute treatment, and optimal long-term management. The aim of this review is to summarize current scientific ev...
Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Michael W ürdinger, Victoria L. Cammann, Jelena R. Ghadri, Christian Templin Source Type: research
