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Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.
- Source :
-
Open heart [Open Heart] 2022 Apr; Vol. 9 (1). - Publication Year :
- 2022
-
Abstract
- Objectives: To describe a cohort of patients with arrhythmogenic left ventricular cardiomyopathy (ALVC), focusing on the spectrum of the clinical presentations.<br />Methods: Patients were retrospectively evaluated between January 2012 and June 2020. Diagnosis was based on (1) ≥3 contiguous segments with subepicardial/midwall late gadolinium enhancement in the left ventricle (LV) at cardiac magnetic resonance plus a likely pathogenic/pathogenic arrhythmogenic cardiomyopathy (AC) associated genetic mutation and/or familial history of AC and/or red flags for ALVC (ie, negative T waves in V4-6/aVL, low voltages in limb leads, right bundle branch block like ventricular tachycardia) or (2) pathology examination of explanted hearts or autoptic cases suffering sudden cardiac death (SCD). Significant right ventricular involvement was an exclusion criterion.<br />Results: Fifty-two patients (63% males, age 45 years (31-53)) composed the study cohort. Twenty-one (41%) had normal echocardiogram, 13 (25%) a hypokinetic non-dilated cardiomyopathy (HNDC) and 17 (33%) a dilated cardiomyopathy (DCM). Of 47 tested patients, 29 (62%) were carriers of a pathogenic/likely pathogenic DNA variant. Clinical contexts leading to diagnosis were SCD in 3 (6%), ventricular arrhythmias in 15 (29%), chest pain in 8 (15%), heart failure in 6 (12%) and familial screening in 20 (38%). Thirty patients (57%) had previously received a diagnosis other than ALVC with a diagnostic delay of 6 years (IQR 1-7).<br />Conclusions: ALVC is hidden in different clinical scenarios with a phenotypic spectrum ranging from normal LV to HNDC and DCM. Ventricular arrhythmias, chest pain, heart failure and SCD are the main clinical presentations, being familial screening essential for the affected relatives' identification.<br />Competing Interests: Competing interests: None declared.<br /> (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Subjects :
- Arrhythmias, Cardiac
Chest Pain
Contrast Media
Death, Sudden, Cardiac etiology
Delayed Diagnosis
Female
Gadolinium
Humans
Male
Middle Aged
Retrospective Studies
Arrhythmogenic Right Ventricular Dysplasia complications
Arrhythmogenic Right Ventricular Dysplasia diagnosis
Arrhythmogenic Right Ventricular Dysplasia genetics
Cardiomyopathies diagnosis
Cardiomyopathy, Dilated
Heart Failure
Subjects
Details
- Language :
- English
- ISSN :
- 2053-3624
- Volume :
- 9
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Open heart
- Publication Type :
- Academic Journal
- Accession number :
- 35444050
- Full Text :
- https://doi.org/10.1136/openhrt-2021-001914