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Heart failure and cardiomyopathies
Original research
Tip of the iceberg: a tertiary care centre retrospective study of left ventricular hypertrophy aetiologies
  1. Maxime Beneyto1,2,
  2. Eve Cariou1,2,
  3. Jérémy Brunel1,2,
  4. Alex Scripcariu1,2,
  5. Hubert Delasnerie1,2,
  6. Stéphanie Brun1,2,
  7. Yoan Lavie-Badie1,2,3,
  8. Delphine Dupin Deguine4,
  9. Michel Galinier1,2,
  10. Didier Carrié1,2 and
  11. Olivier Lairez1,2,3
  1. 1Cardiology, CHU Toulouse Pôle Cardiovasculaire et Métabolique, Toulouse, France
  2. 2Cardiac Imaging Centre, CHU Toulouse Pôle Cardiovasculaire et Métabolique, Toulouse, France
  3. 3Nuclear Medicine, CHU Toulouse Département de Médecine Nucléaire, Toulouse, France
  4. 4Genetics, CHU Toulouse, Toulouse, France
  1. Correspondence to Dr Maxime Beneyto; beneyto.maxime{at}gmail.com

Abstract

Aims To phenotype patients referred to a tertiary centre for the exploration of a left ventricular hypertrophy (LVH) starting from 12 mm of left ventricular wall thickness (LVWT).

Methods and results Consecutive patients referred for aetiological workup of LVH, beginning at 12 mm of LVWT were retrospectively included in this tertiary single-centred observational study. Patients presenting with severe aortic stenosis were excluded. Aetiological workup was reviewed for each subject and aetiologies were adjudicated by expert consensus.

Among 591 patients referred for LVH aetiological workup, 41% had a maximal LVWT below 15 mm. LVH aetiologies were led by cardiac amyloidosis (CA, 34.3%), followed by sarcomeric hypertrophic cardiomyopathy (S-HCM, 32.1%), hypertensive cardiomyopathy (21.7%), unknown aetiology (7.6%) and other (4.2%), including Anderson-Fabry’s disease (1.7%). CA and S-HCM affected over 50% of patients with mild LVH (12–14 mm); the prevalence of these aetiologies rose with LVH severity. Among patients with Anderson-Fabry’s disease, 4 (40%) had a maximal LVWT <15 mm.

Conclusions Mild LVH (ie, 12–14 mm) conceals multiple aetiologies that can lead to specific treatment, cascade family screening and specific follow-up. Overall, CA is nowadays the leading cause of LVH in tertiary centers.

  • cardiomyopathies
  • cardiomyopathy
  • hypertrophic
  • epidemiology
  • genetic diseases
  • inborn
http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/openhrt-2020-001462

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    Footnotes

    • Contributors EC and OL participated in the design of the study. MB, EC, JB, AS, HD and SB were involved in data collection. MB performed the statistical analysis. MB, EC and OL interpreted the findings and drafted the manuscript and provided final approval of the version to be published. MB, EC, YL-B, DDD, MG, DC and OL contributed to the discussion. All authors have read and approved the final manuscript. OL is responsible for the final content as guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests Olivier Lairez received research support and personal compensation for consulting, serving on a scientific advisory board, speaking or other activities with Alnylam, Amicus, Genzyme, Pfizer and Shire-Takeda. Eve Cariou received personal compensation for speaking with Pfizer.

    • Patient consent for publication Not required.

    • Ethics approval Our institutional review board (CHU Rangueil) approved the study and registered it under the reference RnIPH 2020-85.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement Data are available upon reasonable request to the corresponding author.