Cardiogenetics

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Open AccessReview

Fabry Disease, a Complex Pathology Not Easy to Diagnose

by Paolo Colomba, Simone Scalia, Giuseppe Cammarata, Carmela Zizzo, Daniele Francofonte, Vincenzo Savica, Riccardo Alessandro, Francesco Iemolo and Giovanni Duro

Cardiogenetics 2015, 5(1), 5612; https://doi.org/10.4081/cardiogenetics.2015.5612 - 28 Dec 2015

Cited by 1 | Viewed by 610

Abstract

Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms can occur at different ages, generally in childhood, with different severity and course. Fabry disease is suspected on the basis of clinical and anamnestic-familial data, and it is confirmed by enzymatic and genetic assays. However, Fabry disease could be a pathology more complex than previously considered, and the diagnostic tests that are currently in use could be not always sufficient to confirm the clinical diagnosis. Probably, other factors could be also involved in the onset of symptomatology. In the last years, the knowledge of the disease is considerably increased but other studies are necessary to make a prompt and reliable diagnosis. An early diagnosis of Fabry disease is essential for the beginning of the enzyme replacement therapy, which can contribute to arrest its progression and improve the quality of life of patients. Full article

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Open AccessBrief Report

Persistent Left Superior Vena Cava: An Overlooked Feature of CHARGE Syndrome?

by Paula Goldenberg, Amy Shikany, Ashley Parrott, Stephanie M. Ware and Robert B. Hinton

Cardiogenetics 2015, 5(1), 5511; https://doi.org/10.4081/cardiogenetics.2015.5511 - 19 Dec 2015

Viewed by 683

Abstract

CHARGE is a well-characterized syndrome (OMIM 2148400) associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava (LSVC) has been described in patients with CHARGE syndrome in one study of LSVC associations. A retrospective chart review was conducted for all patients with CHARGE syndrome, diagnosed by Blake criterion features and/or the presence of a pathogenic CHD7 mutation. Echocardio - grams were performed on a clinical basis for all patients and were systematically reviewed and classified. Persistent LSVC was present in 50% of patients with CHARGE syndrome (4/8) and was seen in 3 out of 33 patients seen by cardiovascular genetics with 22q11.2 deletion syndrome. Persistent LSVC is a common finding in patients with CHARGE syndrome and its presence may increase the index of suspicion in patients with other characteristic congenital anomalies. Full article

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Open AccessEditorial

Clinical Mass Spectrometry in Heart Disease

by Liam Heaney and Toru Suzuki

Cardiogenetics 2015, 5(1), 5459; https://doi.org/10.4081/cardiogenetics.2015.5459 - 05 Nov 2015

Viewed by 519

Abstract

The presence of mass spectrometry (MS) in the clinical setting is not a new feature, with the use of gas chromatography-MS (GC-MS) for toxicology assays reported as far back as the 1970s [...] Full article

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Open AccessArticle

A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant

by Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu and Matteo Vatta

Cardiogenetics 2015, 5(1), 5251; https://doi.org/10.4081/cardiogenetics.2015.5251 - 30 Oct 2015

Viewed by 779

Abstract

We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneurysm and dissection panel, research testing revealed a novel c.5732A>T (p.E1911V) variant in exon 34 of the MYLK gene (NM_053025). Two likely pathogenic variants in this gene have been reported previously in individuals with familial thoracic aortic aneurysm and dissection. Given the unclear clinical consequence of the variant found in our proband, we have classified this change as a variant of uncertain significance. In addition to discussing the complexity involved in variant interpretation, we recognize the need for additional research for more accurate MYLK interpretation. Finally, we comment on the unique challenges of post mortem genetic testing. Full article

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Open AccessArticle

Patent Ductus Arteriosus and Pulmonary Artery Aneurism in a Child Affected by Loeys-Dietz Syndrome

by Marcello Marcì

Cardiogenetics 2015, 5(1), 5269; https://doi.org/10.4081/cardiogenetics.2015.5269 - 28 Oct 2015

Viewed by 711

Abstract

We report the case of a 3-year old girl affected by Loeys-Dietz syndrome, a rare association of aneurysms and tortuosity of arteries associated to hypertelorism and cleft palate that was firstly described by Loeys and Dietz in 2005. The patient developed aneurysms of aortic root and of pulmonary artery, besides a patent ductus arteriosus was evidenced. We also reviewed the current literature concerning the aetiology and management of this syndrome. Full article

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Open AccessReview

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

by Hubert Baars, Eline Overwater, Marieke Baars, Barbara Mulder, Wilhelmina Kerstjens-Frederikse, Klaartje van Engelen and Arjan Houweling

Cardiogenetics 2015, 5(1), 4842; https://doi.org/10.4081/cardiogenetics.2015.4842 - 30 Apr 2015

Viewed by 670

Abstract

Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now. Full article

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Cardiogenetics, Volume 5, Issue 1 (April 2015) – 6 articles

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