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Laminopathies affecting the heart: from clinical suspicion to correct treatment

This first session organised by the WG 21 on myocardial and pericardial disease discussed clinical, genetic and prophylactic therapy options in patients with laminopathies affecting the heart.

Genomics


Clinical signs
The first speaker, Alida Caforio from Italy, summarizes the wide clinical spectrum and different symptoms of patients with myocardial and skeletal involvement associated with different mutation within the lamin A/C and emerin genes. Lamin A/C mutations have been reported to be associated with up to 10 distinct phenoytypes affecting the skeletal and/or cardiac muscle, white fat distribution, peripheral nervous tissue and bone tissue. They can cause premature aging with or without myopathy.

Clinical course
Philippe Charon demonstrated with different pedigrees of families with known laminopathies the clinical course of the disease with an increase of heart failure and the need for pacemakers and/or AICD therapy with age. The vast majority of mutation carriers develop cardiac complications characterized by conduction defects, arrhythmias, left ventricular dilatation and dysfunction leading to heart failure. 

Genetic diagnosis
Eloisa Arbustini from Italy points out that as regards the clinical phenotype, there is a large variability in the abnormalities observed on tissue biopsies. Morphologic alterations may include the loss of the nuclear envelope in approximately 30% of the nuclei from patients with DCM carrying a lamin A/C mutation as well as nuclear membrane damage with focal disruptions, blebs and nuclear pore clustering. She summarizes that laminopathies are a malignant disease requiring specific screening and diagnostic work up approach.

Therapeutic options
Lorenzo Monserrat from Spain summarizes the therapeutic options in patients with LaminA/C mutations and points out that first of all, genetic screening has to be performed, because not all variants are disease-causing. In cases of mutation carriers without disease expression, close follow-up is recommended. In cases of mutation carriers with disease expression, medical treatment and the implantation of an ICD is strongly recommended, and in patients <35 years of age an electrophysiological investigation may be helpful.

Future perspectives
Last but not least, Tina Helio from Finland summarizes the future perspectives in genetics which may help to improve the diagnostic work up not only in patients but also the relatives.

Conclusion:

The session with five different talks starting from clinical sign and symptoms, the clinical course of the patients and the relatives, the importance of a correct genetic diagnosis with direct impact on the therapeutic option in a given patient and the future perspective in genetics points out that 1) Lamin A/C mutations have a high prevalence in DCM patients and 2) symptomatic carriers have a poor prognosis. 
For this, a systematic mutation screening and a prophylactic therapy with an ICD to prevent sudden death in these patients is highly recommended.

References


134-135-136-137-138

SessionTitle:

Laminopathies affecting the heart: from clinical suspicion to correct treatment

Notes to editor


This congress report accompanies a presentation given at the ESC Congress
2008. Written by the author himself/herself, this report does not necessarily reflect the opinion of the European Society of Cardiology.

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.