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Mutation spectrum of hungarian patients with hypertrophic cardiomyopathy assessed by next generation sequencing

Session Poster Session 1

Speaker Annamaria Tringer

Congress : Heart Failure 2018

  • Topic : heart failure
  • Sub-topic : Chronic Heart Failure - Other
  • Session type : Poster Session
  • FP Number : P430

Authors : A Tringer (Szeged,HU), L Hategan (Szeged,HU), V Nagy (Szeged,HU), B Csanyi (Szeged,HU), J Borbas (Szeged,HU), Z Hegedus (Szeged,HU), I Nagy (Szeged,HU), T Forster (Szeged,HU), R Sepp (Szeged,HU)

A Tringer1 , L Hategan1 , V Nagy1 , B Csanyi1 , J Borbas1 , Z Hegedus2 , I Nagy2 , T Forster1 , R Sepp1 , 1University of Szeged, 2nd Department of Internal Medicine and Cardiology Centre - Szeged - Hungary , 2Biological Research Centre of Szeged - Szeged - Hungary ,


Background: Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by the mutations in sarcomeric genes. Due to the high degree of genetic heterogeneity the genetic screening of the disease is lengthy and laborious.

Purpose: We performed genetic analysis of Hungarian patients with HCM using next-generation sequencing.

Patient and methods: We examined 103 patients with HCM (58 men, 45 women, average age: 45±15 years). Familial disease was detected in 27 cases (26%). Maximal left ventricular (LV) wall thickness was 22±6 mm and significant LV outflow tract gradient was observed in 28 cases. Using next-generation sequencing we screened 103 known causative cardiomyopathy genes.

Results: Genetic analysis identified 284 rare (<1% minor allele frequency) potentially causative variants, causing either amino acid change of affecting the ’splice site’ region. Pathogenic or likely pathogenic variants were identified in 68 patients (66%). Pathogenic variants most commonly affected the MYBPC3 gene (36/103, 35%), the MYH7 gene (16/103, 16%), and the TNNT2 and TPM1 genes (3/103, 3%). Rare sarcomeric gene variants, affecting the TNNI3 gene (2/103, 2%), the ACTC1, MYL2 and MYL3 genes (1/103, 1%) has also been detected. We observed the MYBPC3 p.Gln1233*, p.Pro955fs and p.Ser593fs variants in multiple cases (8, 5 and 6 cases, respectively) pointing out to a possible founder effect.

Discussion: Next-generation sequencing is appropriate for screening high number of patients. In accordance with literature data, the MYBPC3 gene seems to be the most commonly affected gene in Hungarian HCM patients.

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