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Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
Congenital myopathies are mainly associated with a mild cardiac phenotype
Helle Petri1, Karim Wahbi2, Nanna Witting3
1Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. Hellepetri1@gmail.com.
Insights
Congenital myopathies typically present with mild cardiac issues. However, specific genetic mutations like MYH7 warrant closer cardiac monitoring, while others may require less frequent assessments after initial screening.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Congenital myopathies are a group of inherited muscle disorders.
- Cardiac involvement can occur in patients with congenital myopathies.
- Understanding the prevalence and genetic associations of cardiac issues is crucial.
Purpose of the Study:
- To determine the frequency of cardiac involvement in congenital myopathy patients.
- To explore the link between cardiac manifestations and specific genetic mutations.
Main Methods:
- Evaluated 130 patients using physical exams, ECG, echocardiography, and Holter monitoring.
- Genetic diagnosis was established in 75% of patients.
- Follow-up was conducted for major adverse events.
Main Results:
- Cardiac abnormalities included bundle branch blocks, left-ventricular hypertrophy, dilated cardiomyopathy, and arrhythmias.
- RYR1, TPM2, DNM2, and MYH7 gene mutations were associated with specific cardiac findings.
- No cardiac-related deaths occurred during the follow-up period.
Conclusions:
- Congenital myopathies generally exhibit a mild cardiac phenotype.
- Patients with MYH7 and TTN mutations may require more vigilant cardiac assessment.
- Routine cardiac evaluations can potentially be reduced for patients with normal initial screening and without high-risk genotypes.
Background:
To evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes.
Methods:
We evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events.
Results:
We included 130 patients, 55 men (42%), with a mean age of 34 ± 17 years. A genetic diagnosis was established in 97 patients (75%). Right bundle branch block was observed in three patients: 2/34 patients with a ryanodine receptor 1 (RYR1) and 1/6 with a tropomyosin two gene (TPM2) gene mutation. Echocardiography showed left-ventricular hypertrophy in five patients: 2/17 and 3/34 patients with a Dynamin 2 (DNM2) and a RYR1 mutation, respectively. One patient with a myosin heavy-chain (MYH7) mutation had dilated cardiomyopathy and heart failure. On Holter monitoring, frequent ventricular premature contractions were observed in one patient with a DNM2 mutation. Two patients with a TPM2 and a RYR1 mutation, respectively, had a single short run of non-sustained ventricular tachycardia. Atrioventricular nodal re-entry tachycardia was observed in a 20-year-old man with an actin 1 gene mutation. During follow-up (median 8.4 years), four patients died, all of non-cardiac causes.
Conclusion:
Congenital myopathies are generally associated with a mild cardiac phenotype. Our findings substantiate the literature and indicate that, except for patients with specific genotypes, such as MYH7 and TTN mutations, repeated cardiac assessments can be minimized, given a normal initial cardiac screening at time of diagnosis.
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