Dataset Information

Noncompaction cardiomyopathy: A new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations.

ABSTRACT:

Unlabelled

Noncompaction cardiomyopathy (NCCM) is a primary, genetic cardiomyopathy with variable clinical manifestations that include mitral regurgitation (MR).

Methods

This study comprised patients diagnosed with NCCM and MR in two cardiac centers (King Abdul-Aziz Cardiac Center, Riyadh, Kingdom of Saudi Arabia and Sudan Heart Institute, Khartoum, Sudan), and seen in the period between 2002 and 2013. The study describes follow up, clinical, echocardiographic, and histopathological findings.

Results

Nineteen cases (85% females) were identified. Ten percent of the cases had relapses and remissions of heart failure. Echocardiographic features included leaflet retraction in all patients, characteristic malcoaptation, and a zigzag deformity of anterior leaflet in 57% of patients. Ruptured chordae were found in 15% of the patients. One patient had pathological examination of the mitral valve which showed myxomatous degeneration, and sclerotic and calcific changes.

Conclusion

We describe and discuss a new mechanism for MR caused by NCCM with identifiable clinical and echocardiographic features, and pathological correlations.

SUBMITTER: Ali SK

PROVIDER: S-EPMC4392355 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature

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Publications

Noncompaction cardiomyopathy: A new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations.

Ali Sulafa K M SK Abu-Sulaiman Riyadh R Agouba Rihab Beshir RB

Journal of the Saudi Heart Association 20140722 2

<h4>Unlabelled</h4>Noncompaction cardiomyopathy (NCCM) is a primary, genetic cardiomyopathy with variable clinical manifestations that include mitral regurgitation (MR).<h4>Methods</h4>This study comprised patients diagnosed with NCCM and MR in two cardiac centers (King Abdul-Aziz Cardiac Center, Riyadh, Kingdom of Saudi Arabia and Sudan Heart Institute, Khartoum, Sudan), and seen in the period between 2002 and 2013. The study describes follow up, clinical, echocardiographic, and histopathologic ...[more]

PMID: 25870499

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Project description:Objectives: Noncompaction Cardiomyopathy (NCCM) has been classified as primary genetic cardiomyopathy and has gained increasing clinical awareness; however, little is known about NCCM in the fetal population. We aimed to investigate the clinical characteristics and genetic spectrum of a fetal population with NCCM. Methods: We retrospectively reviewed all fetuses with a prenatal diagnosis of NCCM at a single center between October 2010 and December 2019. These cases were investigated for gestational age at diagnosis, gender, left or biventricular involvement, associated cardiac phenotypes, outcomes, and genetic testing data. Results: We identified 37 fetuses with NCCM out of 49,898 fetuses, indicating that the incidence of NCCM in the fetal population was 0.07%. Of the 37 fetuses, 26 were male, ten were female and one was of unknown gender. NCCM involvement biventricle is the most common (n = 16, 43%), followed by confined to the left ventricle (n = 14, 38%). Nineteen (51%) had additional congenital heart defects, with right-sided lesions being the most common (n = 14, 74%), followed by ventricular septal defects (n = 10, 53%). Hydrops fetalis was present in 12 cases (32%), of which four were atypical (pericardial effusion only). Sequencing analysis was performed at autopsy (n = 19) or postnatally (n = 1) on 20 fetuses. Of the 20 fetuses undergoing copy number variation sequencing and whole-exome sequencing, nine (47%) had positive genetic results, including one with a pathogenic copy number variant and eight with pathogenic/likely pathogenic variants. Non-sarcomere gene mutations accounted for the vast majority (n = 7). In contrast, sarcomere gene mutations occurred in only one case (TPM1), and no mutations were identified in the three most common sarcomere genes (MYH7, TTN, and MYBPC3) of pediatric and adult patients. Pathogenic/likely pathogenic variants were significantly more frequent in fetuses with congenital heart defects than those without congenital heart defects. Conclusions: Our data demonstrate that fetal NCCM is a unique entity. Compared with pediatric and adult NCCM, fetal NCCM is more prone to biventricle involvement, more likely to be complicated with congenital heart defects, and has a distinct genetic spectrum.

Dataset Information

Noncompaction cardiomyopathy: A new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations.

Unlabelled

Methods

Results

Conclusion

Publications

Noncompaction cardiomyopathy: A new mechanism for mitral regurgitation with distinct clinical, echocardiographic features and pathological correlations.

Similar Datasets

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