Clinical and echocardiographic evolution of patients with arrhythmogenic cardiomyopathy before heart transplantation
Goran Rimac1, Nickolas Poulakos2, Alexander Beaulieu-Shearer2
1Department of Cardiology, Institut Universitaire de Cardiologie et Pneumologie de Québec, Québec, Canada.
Insights
Arrhythmogenic cardiomyopathy (ACM) patients needing heart transplantation (HTx) often have ventricular arrhythmias and biventricular issues. Heart failure symptoms frequently drive the need for HTx in these challenging cases.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Arrhythmogenic cardiomyopathy (ACM) is an inherited condition causing fibrofatty myocardial replacement, making diagnosis difficult.
- Severe ACM phenotypes requiring heart transplantation (HTx) have limited clinical data.
- Understanding the clinical course of ACM patients undergoing HTx is crucial.
Purpose of the Study:
- To describe the clinical and echocardiographic evolution of ACM patients who underwent HTx.
- To identify factors influencing the need for heart transplantation in ACM.
- To characterize the phenotype of ACM patients requiring advanced heart failure therapy.
Main Methods:
- Retrospective study of patients who underwent HTx between 1998 and 2019.
- Definite ACM diagnosis confirmed by explanted heart examination.
- Analysis of clinical data, echocardiography, and outcomes.
Main Results:
- Ten ACM patients underwent HTx; only four were diagnosed pre-transplant.
- Patients presented with ventricular tachycardia (VT) and 50% experienced sudden death resuscitation.
- Left ventricular ejection fraction remained similar pre-transplant, but right ventricular dysfunction was universal.
Conclusions:
- ACM patients needing HTx exhibit significant ventricular arrhythmias and biventricular dysfunction.
- Early diagnosis of ACM is challenging, often delayed until severe heart failure develops.
- Heart failure symptoms are the primary indication for transplantation in this cohort.
Background:
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterized by fibrofatty myocardial replacement, and accurate diagnosis can be challenging. The clinical course of patients expressing a severe phenotype of the disease needing heart transplantation (HTx) is not well described in the literature. Therefore, this study aims to describe the clinical and echocardiographic evolution of patients with ACM necessitating HTx.
Methods:
We retrospectively studied all patients who underwent HTx in our institution between 1998 and 2019 with a definite diagnosis of ACM according to the explanted heart examination.
Results:
Ten patients with confirmed ACM underwent HTx. Only four of them had a diagnosis of ACM before HTx. These patients were 28 ± 15 years old at the time of their first symptoms. Patients received a diagnosis of heart failure (HF) after 5.9 ± 8.7 years of symptom evolution. The mean age at transplantation was 40 ± 17 years old. All the patients experienced ventricular tachycardia (VT) at least once before their HTx and 50% were resuscitated after sudden death. The mean left ventricular ejection at diagnosis and before transplantation was similar (32% ± 21% vs. 35.0% ± 19.3%, p = NS). Right ventricular dysfunction was present in all patients at the time of transplantation.
Conclusion:
Patients with ACM necessitating HTx show a high burden of ventricular arrhythmias and frequently present a biventricular involvement phenotype, making early diagnosis challenging. HF symptoms are the most frequent reason leading to the decision to transplant.
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