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Clin Res Cardiol. 2019 Apr 12. doi: 10.1007/s00392-019-01465-3. [Epub ahead of print]

Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.

Author information

1
Department of Medicine III, Institute for Cardiomyopathy, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
2
DZHK (German Centre for Cardiovascular Research), Berlin, Germany.
3
Department of Cardiology, Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430022, Wuhan, China.
4
Institute of Medical Biometry and Informatics, University of Heidelberg, Heidelberg, Germany.
5
Department of Medicine III, Institute for Cardiomyopathy, University of Heidelberg, INF 410, 69120, Heidelberg, Germany. Benjamin.Meder@med.uni-heidelberg.de.
6
DZHK (German Centre for Cardiovascular Research), Berlin, Germany. Benjamin.Meder@med.uni-heidelberg.de.
7
Department of Genetics, Stanford Genome Technology Center, Stanford University School of Medicine, Stanford, CA, USA. Benjamin.Meder@med.uni-heidelberg.de.

Abstract

BACKGROUND:

Left ventricular non-compaction has been increasingly diagnosed in recent years. However, it is still debated whether non-compaction is a pathological condition or a physiological trait. In this meta-analysis and systematic review, we compare studies, which investigated these two different perspectives. Furthermore, we provide a comprehensive overview on the clinical outcome as well as genetic background of left ventricular non-compaction cardiomyopathy in adult patients.

METHODS AND RESULTS:

We retrieved PubMed/Medline literatures in English language from 2000 to 19/09/2018 on clinical outcome and genotype of patients with non-compaction. We summarized and extensively reviewed all studies that passed selection criteria and performed a meta-analysis on key phenotypic parameters. Altogether, 35 studies with 2271 non-compaction patients were included in our meta-analysis. The mean age at diagnosis was the mid of their fifth decade. Two-thirds of patients were male. Congenital heart diseases including atrial or ventricular septum defect or Ebstein anomaly were reported in 7% of patients. Twenty-four percent presented with family history of cardiomyopathy. The mean frequency of neuromuscular diseases was 5%. Heart rhythm abnormalities were reported frequently: conduction disease in 26%, supraventricular tachycardia in 17%, and sustained or non-sustained ventricular tachycardia in 18% of patients. Three important outcome measures were reported including systemic thromboembolic events with a mean frequency of 9%, heart transplantation with 4%, and adequate ICD therapy with 15%. Nine studies investigated the genetics of non-compaction cardiomyopathy. The most frequently mutated gene was TTN with a pooled frequency of 11%. The average frequency of MYH7 mutations was 9%, for MYBPC3 mutations 5%, and for CASQ2 and LDB3 3% each. TPM1, MIB1, ACTC1, and LMNA mutations had an average frequency of 2% each. Mutations in PLN, HCN4, TAZ, DTNA, TNNT2, and RBM20 were reported with a frequency of 1% each. We also summarized the results of eight studies investigating the non-compaction in altogether 5327 athletes, pregnant women, patients with sickle cell disease, as well as individuals from population-based cohorts, in which the presence of left ventricular hypertrabeculation ranged from 1.3 to 37%.

CONCLUSION:

The summarized data indicate that non-compaction may lead to unfavorable outcome in different cardiomyopathy entities. The presence of key features in a multimodal diagnostic approach could distinguish between benign morphological trait and manifest cardiomyopathy.

KEYWORDS:

Clinical outcome; Genetic background; Left ventricular non-compaction

PMID:
30980206
DOI:
10.1007/s00392-019-01465-3

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