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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Cardiogenetics, Volume 4, Issue 1 (July 2014) – 6 articles

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Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease?
by Ciro Bancone, Marisa De Feo and Alessandro Della Corte
Cardiogenetics 2014, 4(1), 4908; https://doi.org/10.4081/cardiogenetics.2014.4908 - 17 Feb 2015
Viewed by 511
Abstract
The present paper briefly reviews the literature supporting the pathogenetic importance of hemodynamics in the development of bicuspid aortic valve-associated aortopathy. The hypothesis of a genetic basis for this disease, whether it is a common defect for bicuspid malformation and predisposition to aortic [...] Read more.
The present paper briefly reviews the literature supporting the pathogenetic importance of hemodynamics in the development of bicuspid aortic valve-associated aortopathy. The hypothesis of a genetic basis for this disease, whether it is a common defect for bicuspid malformation and predisposition to aortic aneurysm or not, should not be discarded. However, a more complex, multifactorial pathogenesis model is here proposed, based on the hypotheses raised by recent studies both on clinical and pre-clinical aspects of bicuspid aortopathy, whereby in at least some forms of the disease the biomechanical factors capable to induce aortic wall maladaptive remodeling may be necessary to the development of the aortopathy. The main scope of this review is to underscore the importance of trying to advance the scientific knowledge not only on the genetic bases but also on the peculiar aspects of hemodynamics of bicuspid aortic valve and flow-induced vascular remodeling. Full article
779 KiB  
Review
Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease
by Gibran Minero and Simon C. Body
Cardiogenetics 2014, 4(1), 4857; https://doi.org/10.4081/cardiogenetics.2014.4857 - 9 Feb 2015
Viewed by 491
Abstract
As the most common congenital heart defect, understanding the etiology and progression of aortopathy in bicuspid aortic valve (BAV) is imperative to management of patients with BAV. A reasonable hypothesis, based on the strength of evidence for both genetic and hemodynamic causes of [...] Read more.
As the most common congenital heart defect, understanding the etiology and progression of aortopathy in bicuspid aortic valve (BAV) is imperative to management of patients with BAV. A reasonable hypothesis, based on the strength of evidence for both genetic and hemodynamic causes of BAV-associated thoracic aortic disease (TAD), is that BAV is caused by genetic variant(s) that also predispose to TAD by a common mechanism; presumably by cell-signaling resulting in an embryologic defect that causes BAV and a postnatal risk of TAD that is accentuated by hemodynamic stress of abnormal flow through the BAV valve. Clinical heterogeneity seen in BAVassociated TAD is likely due to individual genetic variation and the severity of hemodynamic alteration. Full article
963 KiB  
Review
Compound BMPR2 Gene Mutations in a Malignant Variant of Idiopathic Pulmonary Arterial Hypertension
by Walter Serra, Nicola Marziliano, Domenico Corradi, Francesca Brigati, Mariano Intrieri, Nadia Sapere, Vittoria Caporale, Piera Angelica Merlini, Alfredo Chetta and Diego Ardissino
Cardiogenetics 2014, 4(1), 4824; https://doi.org/10.4081/cardiogenetics.2014.4824 - 23 Dec 2014
Viewed by 597
Abstract
Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases, including congenital heart disease. 6% of patients with PAH show a family history of the disease [hereditary PAH (HPAH)], with the major genetic determinants of HPAH being heterozygous germline mutations in [...] Read more.
Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases, including congenital heart disease. 6% of patients with PAH show a family history of the disease [hereditary PAH (HPAH)], with the major genetic determinants of HPAH being heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR2). We present the case of a 38-year-old woman of Indian descent; initially admitted with progressive dyspnea [New York Heart Association (NYHA) class III]. The results of the proband’s clinical assessments are presented here. Cardiac catheterization confirmed idiopathic PAH with severe right ventricular hypertrophy associated with pulmonary arteriopathy. Initial treatment comprised the dual endothelin receptor antagonist, bosentan, furosemide, warfarin and intravenous infusion of prostaglandin I2 (PGI2) for 3 days. Despite this, the patient died of pulmonary hemorrhagic edema and cardiogenic shock after 6 days of intensive care. After relatives’ consent, post mortem assessments confirmed a diagnosis of PAH; the heart displayed significant right ventricular hypertrophy and it was particularly noted that the right atrial appendage had undergone extreme dilation. Pulmonary arteriopathy was characterized by medial hypertrophy, arterialization of muscular arteries and muscularization of non-muscularized distal arteries. Molecular genetic analyses revealed the presence of cis-mutations in the BMPR2 gene (p.Cys123Arg and p.Arg332X). Cosegregation studies were not available. Our findings suggest that mutations of the BMPR2 gene gave rise to the onset of PAH in this patient and that the severity of the onset and progression could be attributed to the presence of multiple mutations in a genedosage manner. Full article
583 KiB  
Review
Clinical Management of Familial Hypercholesterolemia: New Insights from International Guidelines and Recent Studies
by Anthony S. Wierzbicki
Cardiogenetics 2014, 4(1), 4672; https://doi.org/10.4081/cardiogenetics.2014.4672 - 22 Dec 2014
Viewed by 539
Abstract
This review article assesses the clinical features, diagnosis and management of familial hypercholesterolemia (FH). FH is mostly an autosomally dominantly inherited with an incidence of 1 in 250. Tendon xanthomata are pathognomonic. Untreated FH is associated with 100-200 fold increase in risk of [...] Read more.
This review article assesses the clinical features, diagnosis and management of familial hypercholesterolemia (FH). FH is mostly an autosomally dominantly inherited with an incidence of 1 in 250. Tendon xanthomata are pathognomonic. Untreated FH is associated with 100-200 fold increase in risk of cardiovascular disease (CVD). FH is diagnosed by screening for elevated low density lipoprotein cholesterol (LDL-C) and confirmed by DNA techniques. Once index cases have been identified cascade family screening should occur. FH is primarily treated with high dose statin therapy. This reduces progression of surrogate markers of coronary arterial disease and registry studies show a 70% long-term decrease in CVD mortality. The justification for other lipidlowering therapies e.g., ezetimibe relies on the high population attributable risk of LDL-C in FH. Novel therapies with greater LDL-C reducing actions such as proprotein convertase subtilisin kexin-9 inhibitors show promise in FH Children with FH should be identified through cascade screening but drug treatment is dependent on LDL-C and family history. They should be managed in specialist paediatric units or in family clinics. Cases of homozygous FH are rare. This orphan condition should be managed in specialist centers with a combination of drug therapy, apheresis and liver transplantation. Novel therapies for the treatment of homozygous FH such as mipomersen and lomitapide are gradually coming into use FH is a common underdiagnosed condition. Current, let alone future, therapies are extremely effective in reducing both LDL-C and CVD events in patients with FH. Identification and treatment of FH should be a feature of preventative CVD medicine programmes. Full article
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Review
The Impact of β 2 Adrenergic Receptor Polymorphisms on the Outcomes in Cardiovascular Diseases
by Ersilia Cipolletta, Annalisa Carillo, Roberto Annunziata, Bruno Trimarco, Antonietta Franco and Guido Iaccarino
Cardiogenetics 2014, 4(1), 4661; https://doi.org/10.4081/cardiogenetics.2014.4661 - 22 Dec 2014
Cited by 2 | Viewed by 565
Abstract
Cardiovascular diseases (CVD) include a heterogeneous group of multifactorial conditions and represent the major health problem in the western society. Many studies have evidenced that inter-individual variability affects the prognosis and the response to pharmacological treatment in patients with CVD. The identification of [...] Read more.
Cardiovascular diseases (CVD) include a heterogeneous group of multifactorial conditions and represent the major health problem in the western society. Many studies have evidenced that inter-individual variability affects the prognosis and the response to pharmacological treatment in patients with CVD. The identification of genetic markers to select patients more susceptible to develop cardiovascular complications has a therapeutic interest for undertaking individualized therapeutic approach. The sympathetic nervous system acts through adrenergic receptor subtypes and plays a key role in the development and prognosis of CVD. In particular, β-2 adrenergic receptors (β2AR), expressed in a wide variety of tissues, are critical regulators of cardiac output, peripheral vascular resistance and metabolism. Several variations with multiple single-nucleotide polymorphisms have been identified in β2AR gene. There are 3 common β2AR polymorphisms characterized in more detail for their influence on functional receptor activity. In particular, the changing an arginine for a glycine at position 16 of the receptor protein (Arg16Gly) is associated with increased agonist-induced down-regulation; the substitution of glutamine with glutamic acid at position 27 (Gln27Glu) leads to resistance to down-regulation; the substitution of threonine with isoleucine (Thr164Ile) at position 164 causes receptor uncoupling from the G protein. Many studies have indicated the association of β2AR polymorphisms with various cardiovascular and metabolic diseases and have contributed to indicate the β2AR gene variants an appropriate target for investigating possible links between receptor polymorphisms, drug responses and susceptibility to CVD. However, the reports on the association of β2AR polymorphisms with clinical outcomes of CVD have been contradictory. In this review, we will illustrate the effects of β2ARs genetic variability on the management of CVD. Full article
278 KiB  
Review
Cardiac Imaging in RASopathies/Mitogen Activated Protein Kinase Syndromes
by Rita Gravino and Giuseppe Pacileo
Cardiogenetics 2014, 4(1), 2198; https://doi.org/10.4081/cardiogenetics.2014.2198 - 9 Jul 2014
Cited by 2 | Viewed by 581
Abstract
RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation. As a consequence, its dysregulation has profound developmental consequences, in particular cardiac malformations. RASopathies [...] Read more.
RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation. As a consequence, its dysregulation has profound developmental consequences, in particular cardiac malformations. RASopathies with cardiac features are: Noonan syndrome, multiple lentigines syndrome, cardio-faciocutaneous syndrome, Costello syndrome, neurofibromatosis- 1, Legius syndrome, neurofibromatosis- Noonan syndrome. The former syndromes are associated with a high rate of cardiac involvement (60-85%) and 12 genes: PTPN11, SOS1, RAF1, KRAS, HRAS, BRAF, MEK1/MAP2K1, MEK2/MAP2K2, NRAS, SHOC2, CBL and SPRED1. Although the majority of these diseases are readily distinguishable in clinical terms, an integrated imaging study of the cardiac condition associated to RASopathies helps to better define risk assessment, surveillance, and management of these patients. Full article
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