Penetrance and Risk Profile in Inherited Cardiac Diseases Studied in a Dedicated Screening Clinic

Gimeno, Juan R.; Lacunza, Javier; García‐Alberola, Arcadi; Cerdan, M.; Oliva, María J.; García-Molina, Esperanza; López-Ruiz, María; Castro, Francisco J.; González-Carrillo, Josefa; Morena, Gonzalo de la; Valdés, Mariano

doi:10.1016/j.amjcard.2009.03.055

Cited by 38 publications

(18 citation statements)

References 28 publications

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“…In the majority of the cases, LVHT occurs in association with various genetic disorders [54]. Whether the relation between these conditions and LVHT is causal or coincidental is unknown.…”

Section: Genetic Co-morbiditiesmentioning

confidence: 99%

“…When screening a family for LVHT, it has to be taken into account that family members may exhibit cardiac abnormalities other than the index patient, such as the apical form of hCMP or hCMP. Since LVHT is associated with genetic disease in the majority of the cases [54], there is a need to routinely screen at least first degree relatives of index patients for LVHT.…”

Section: Familial Occurrencementioning

confidence: 99%

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Left ventricular non-compaction and its cardiac and neurologic implications

Finsterer

2010

Heart Fail Rev

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Left ventricular non-compaction, also known as left ventricular hypertrabeculation (LVHT), is a morphological abnormality of the left ventricular myocardium, characterised by a meshwork of myocardial strings, interlacing, and orderless in arrangement. LVHT is most frequently located in the apex and the lateral wall and may occur with or without other congenital or acquired cardiac abnormalities. LVHT is believed to be congenital in the majority of the cases but may develop during life in single cases (acquired LVHT). Congenital LVHT is believed to result from defective late-stage embryonic development of the myocardial architecture. The pathogenesis of acquired LVHT remains speculative. LVHT is most frequently found on transthoracic echocardiography and cardiac MRI but may be visualised also with other imaging techniques. In the majority of the cases, LVHT is associated with hereditary cardiac, neuromuscular, non-cardiac/non-muscle disease, or chromosomal aberrations. In the majority of the cases, LVHT is complicated by ventricular arrhythmias, systolic dysfunction, cardiac embolism, or sudden cardiac death. LVHT per se does not require a specific treatment. Only in case of complications, such as ventricular arrhythmias, cardioembolism, or systolic dysfunction, adequate therapy is indicated. Though initially assessed as poor, the prognosis of LVHT has meanwhile improved, most likely due to the increased awareness for the abnormality and the timely administration of adequate therapy.

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“…In the majority of the cases, LVHT occurs in association with various genetic disorders [54]. Whether the relation between these conditions and LVHT is causal or coincidental is unknown.…”

Section: Genetic Co-morbiditiesmentioning

confidence: 99%

Section: Familial Occurrencementioning

confidence: 99%

Left ventricular non-compaction and its cardiac and neurologic implications

Finsterer

2010

Heart Fail Rev

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“…Identifying the underlying cause of UCA is essential in order to provide targeted pharmacological treatment in the proband, and above all to identify other potentially treatable cases in family members. 2,[5][6][7] This paper describes the usefulness of a sequential diagnostic protocol including pharmacological tests, family assessment, and wide-spectrum genetic testing using next-generation sequencing (NGS) in a multi-center registry of UCA.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Jiménez‐Jáimez¹,

Peinado

Grima

et al. 2015

The American Journal of Cardiology

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“…Many studies have highly demonstrated that genetic and clinical screening of SCD first and second degree case relatives, even in asymptomatic ones, are useful in preventive treatment and diagnosis or prognosis [27][28][29][30].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

et al. 2011

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Cardiomyopathies and channelopathies are major causes of sudden cardiac death. The genetic study of these diseases is difficult because of their heterogenic nature not only in their genetic traits but also in their phenotypic expression. The purpose of the present study is the analysis of a wide spectrum of previously known genetic mutations in key genes related to hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Brugada syndrome (BrS) development. The samples studied include cases of sudden cardiac death (SCD) in young adults and their relatives in order to identify the real impact of genetic screening of SCD in forensic cases. Genetic screening of described variation in 16 genes implicated in the development of HCM and three more genes implicated in LQTS and BrS was performed by using MassARRAY technology. In addition, direct sequencing of the two most prevalent genes implicated in the development of SQTL type 1 and 2 was also carried out. Genetic screening allowed us to unmask four possibly pathogenic mutation carriers in the 49 SCD cases considered; carriers of mutation represent 9% (2/23) of the probands with structural anomalies found after autopsy and 7% (1/14) of the probands with structurally normal hearts after in depth autopsy protocol. One mutation was found among 12 of the recovered SCD cases considered. In people with direct family history of sudden cardiac death, but not themselves, 11 additional mutation carriers were found. Three different mutations were found in six of the 19 LQTS patients, representing three families and two different mutations were found among six patients with previous syncope. Genetic analysis in sudden cardiac death cases could help to elucidate the cause of death, but it also can help in the prevention of future deaths in families at risk. The study presented here shows the importance and relevance of genetic screening in patients with signs of cardiac hypertrophy and in family cases with more than one relative affected.

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Penetrance and Risk Profile in Inherited Cardiac Diseases Studied in a Dedicated Screening Clinic

Cited by 38 publications

References 28 publications

Left ventricular non-compaction and its cardiac and neurologic implications

Left ventricular non-compaction and its cardiac and neurologic implications

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

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