Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?

Lorca, Rebeca; Martı́n, Marı́a; Gómez, Juan; Santamarta, Elena; Morı́s, César; Reguero, J.J.R.; Coto, Eliécer

doi:10.1016/j.ijcard.2015.04.138

Cited by 13 publications

(10 citation statements)

References 7 publications

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“…Disease manifestation included a less common MRD phenotype—Ebstein anomaly and NCCM (Bettinelli et al, ; van Waning et al, ). This variant has been described previously in pedigrees with HCM and NCCM without Ebstein anomaly (Lorca et al, ), and segregated in the expected AD manner among members of this large pedigree. The variant is predicted to affect the actin‐binding site at the head domain of the protein (Figure a), which is vital for sarcomere contraction.…”

Section: Discussionsupporting

confidence: 71%

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Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

Hershkovitz

Kurolap

Ruhrman‐Shahar

et al. 2018

American J of Med Genetics Pt A

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MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of familial hypertrophic CMs.MRDs may also present as skeletal myopathies, with or without CM. Since pathogenic MYH7 variants result in highly variable clinical phenotypes, from mild to fatal forms of cardiac and skeletal myopathies, genotype-phenotype correlations are not always apparent, and translation of the genetic findings to clinical practice can be complicated. Data on genotype-phenotype correlations can help facilitate more specific and personalized decisions on treatment strategies, surveillance, and genetic counseling. We present a series of six MRD pedigrees with rare genotypes, encompassing various clinical presentations and inheritance patterns. This study provides new insights into the spectrum of MRD that is directly translatable to clinical practice. K E Y W O R D S cardiomyopathy, MYH7, MYH7-related disease, skeletal myopathy

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Section: Discussionsupporting

confidence: 71%

“…The variant was found to segregate as expected among all members of this large pedigree, such that all affected individuals were heterozygous for the mutation and none of the healthy individuals harbored it. This variant was previously described in a pedigree with HCM and NCCM without Ebstein anomaly (Lorca et al, ).…”

Section: Case Seriesmentioning

confidence: 81%

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

Hershkovitz

Kurolap

Ruhrman‐Shahar

et al. 2018

American J of Med Genetics Pt A

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“…Left‐ventricular non‐compaction (LVNC) is characterized by abnormal trabeculation of the LV apex with deep intratrabecular recesses, thought to be due to an arrest of the final stage of embryologic myocardial morphogenesis (myocardial compaction) [Maron et al, ; Towbin, ; Ting et al, ; Towbin et al, ]. LVNC is a heterogeneous disorder with considerable phenotypic overlap between other types of cardiomyopathy, including dilated cardiomyopathy and hypertrophic cardiomyopathy (HCM) [Hoedemaekers et al, ; Jefferies et al, ; Lorca et al, ; Towbin et al, ]. The clinical presentation of LVNC can also be quite variable, including LV dilation and dysfunction, arrhythmias, progressive heart failure, stroke, and sudden death, although patients with isolated LVNC and normal LV size and function tend to do well [Jefferies et al, ; Towbin et al, ].…”

Section: Discussionmentioning

confidence: 99%

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Wenger

Chow

Randle

et al. 2016

American J of Med Genetics Pt A

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Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

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“…5 The finding of NCCM and DCM in the FG+ population and within 1 family supports previous suggestions that the various cardiomyopathies are part of a cardiomyopathy spectrum with similar pathogenesis. Lorca et al 40 similarly described the overlapping of HCM and NCCM phenotypes within 1 family.…”

Section: Nccm and Dcm In Fg+ Carriersmentioning

confidence: 95%

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation

Velzen

Schinkel

Oldenburg

et al. 2017

Circ Cardiovasc Genet

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Background— MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G−) HCM. Methods and Results— The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G− probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy. The clinical phenotype of FG+ and G+ probands with HCM was similar. FG+ and G+ probands were younger with less left ventricular outflow tract obstruction than G− probands, however, had more hypertrophy, and nonsustained ventricular tachycardia. FG+ relatives with HCM had less hypertrophy, smaller left atria, and less systolic and diastolic dysfunction than FG+ probands with HCM. After 8±6 years, cardiovascular mortality in FG+ probands with HCM was similar to G+ HCM (22% versus 14%; log-rank P =0.14), but higher than G− HCM (22% versus 6%; log-rank P <0.001) and FG+ relatives with HCM (22% versus 4%; P =0.009). Cardiac events were absent in FG+/phenotype-negative relatives; subtle HCM developed in 11% during 6 years of follow-up. Conclusions— Clinical phenotype and outcome of FG+ HCM was similar to G+ HCM but worse than G− HCM and FG+ HCM diagnosed in the context of family screening. These findings indicate the need for more intensive follow-up of FG+ and G+ HCM versus G− HCM and FG+ HCM in relatives.

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Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?

Cited by 13 publications

References 7 publications

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation

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