Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis

Julie Proukhnitzky; Jérôme Garot; Céline Bordet; Lise Legrand; Flavie Ader; Pascale Richard; Philippe Charron

doi:10.1016/j.jaccas.2020.05.072

Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis

JACC Case Rep. 2020 Jul 15;2(8):1205-1209. doi: 10.1016/j.jaccas.2020.05.072. eCollection 2020 Jul.

Authors

Julie Proukhnitzky¹, Jérôme Garot², Céline Bordet¹, Lise Legrand¹, Flavie Ader^{3

4}, Pascale Richard^{1

3

4}, Philippe Charron^{1

3}

Affiliations

¹ APHP, Département de Génétique & Département de Cardiologie, Centre de Référence des Maladies Cardiaques Héréditaires ou Rares, Hôpital Pitié-Salpêtrière, Paris, France.
² Institut Cardiovasculaire Paris Sud, Hôpital Privé Jacques Cartier, Ramsay Santé Massy, France.
³ Sorbonne Université, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Paris, France.
⁴ APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié-Salpêtrière-Charles Foix, Paris, France.

Abstract

Saw-tooth cardiomyopathy is a very rare disease, and only few cases have been published since its first description 10 years ago. We report the clinical presentation, imaging features and genetic analysis of a saw-tooth cardiomyopathy and argues that it should not be confused with left-ventricular noncompaction. (Level of Difficulty: Intermediate.).

Keywords: ACMG, American College of Medical Genetics; BNP, brain natriuretic peptide; CMR, cardiac magnetic resonance; ECG, electrocardiogram; LV, left ventricle; LVNC, left ventricular noncompaction; cardiomyopathy; left-ventricular noncompaction; muscular bridges; saw-tooth cardiomyopathy; ventricular protrusions.

Publication types

Case Reports