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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L - Heart (2015)

Bottom Line: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival.Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations.

View Article: PubMed Central - PubMed

Affiliation: Health in Code, A Coruña, Spain.

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Related in: MedlinePlus

Phenotype of some carriers of the Gly716Arg mutation. A–C corresponds to the index case. (A) Left ventriculography showing marked trabeculations and invaginations. The echocardiogram (B) shows, in parasternal short axis view at mitral level in diastole, marked posterior trabeculations, also evident in the explanted heart (C). Images D–F correspond to the sister of the index case. The echocardiogram (D) shows asymmetrical septal hypertrophy in the systolic apical four-chamber view, with the typical ‘crescent moon’ shape of the LV and a mild systolic anterior movement of the mitral valve. In the parasternal short axis view at mitral valve level (E) we see septal hypertrophy and wall thinning of the inferoposterior LV wall. The explanted heart (F) shows that this thinned region corresponds with the presence of marked invaginations. Images G–I; correspond to the daughter of the index case. (G) parasternal short axis view immediately distal to the mitral valve shows posterior wall hypertrabeculation without hypertrophy at age 9 years. (H) Apical five-chamber systolic view when she was 13 years old with typical obstructive hypertrophic cardiomyopathy with a dynamic subaortic gradient of 64 mm Hg (I).
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HEARTJNL2014307205F1: Phenotype of some carriers of the Gly716Arg mutation. A–C corresponds to the index case. (A) Left ventriculography showing marked trabeculations and invaginations. The echocardiogram (B) shows, in parasternal short axis view at mitral level in diastole, marked posterior trabeculations, also evident in the explanted heart (C). Images D–F correspond to the sister of the index case. The echocardiogram (D) shows asymmetrical septal hypertrophy in the systolic apical four-chamber view, with the typical ‘crescent moon’ shape of the LV and a mild systolic anterior movement of the mitral valve. In the parasternal short axis view at mitral valve level (E) we see septal hypertrophy and wall thinning of the inferoposterior LV wall. The explanted heart (F) shows that this thinned region corresponds with the presence of marked invaginations. Images G–I; correspond to the daughter of the index case. (G) parasternal short axis view immediately distal to the mitral valve shows posterior wall hypertrabeculation without hypertrophy at age 9 years. (H) Apical five-chamber systolic view when she was 13 years old with typical obstructive hypertrophic cardiomyopathy with a dynamic subaortic gradient of 64 mm Hg (I).

Mentions: This hypothesis came from the evaluation of informative families carrying mutations in one of the most relevant functional domains of β myosin heavy chain: the converter region, located between amino acids 709–777 of the protein.7Figure 1 summarises one of those families, described below, characterised by malignant disease with a marked phenotypical variability.


Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L - Heart (2015)

Phenotype of some carriers of the Gly716Arg mutation. A–C corresponds to the index case. (A) Left ventriculography showing marked trabeculations and invaginations. The echocardiogram (B) shows, in parasternal short axis view at mitral level in diastole, marked posterior trabeculations, also evident in the explanted heart (C). Images D–F correspond to the sister of the index case. The echocardiogram (D) shows asymmetrical septal hypertrophy in the systolic apical four-chamber view, with the typical ‘crescent moon’ shape of the LV and a mild systolic anterior movement of the mitral valve. In the parasternal short axis view at mitral valve level (E) we see septal hypertrophy and wall thinning of the inferoposterior LV wall. The explanted heart (F) shows that this thinned region corresponds with the presence of marked invaginations. Images G–I; correspond to the daughter of the index case. (G) parasternal short axis view immediately distal to the mitral valve shows posterior wall hypertrabeculation without hypertrophy at age 9 years. (H) Apical five-chamber systolic view when she was 13 years old with typical obstructive hypertrophic cardiomyopathy with a dynamic subaortic gradient of 64 mm Hg (I).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4484257&req=5

HEARTJNL2014307205F1: Phenotype of some carriers of the Gly716Arg mutation. A–C corresponds to the index case. (A) Left ventriculography showing marked trabeculations and invaginations. The echocardiogram (B) shows, in parasternal short axis view at mitral level in diastole, marked posterior trabeculations, also evident in the explanted heart (C). Images D–F correspond to the sister of the index case. The echocardiogram (D) shows asymmetrical septal hypertrophy in the systolic apical four-chamber view, with the typical ‘crescent moon’ shape of the LV and a mild systolic anterior movement of the mitral valve. In the parasternal short axis view at mitral valve level (E) we see septal hypertrophy and wall thinning of the inferoposterior LV wall. The explanted heart (F) shows that this thinned region corresponds with the presence of marked invaginations. Images G–I; correspond to the daughter of the index case. (G) parasternal short axis view immediately distal to the mitral valve shows posterior wall hypertrabeculation without hypertrophy at age 9 years. (H) Apical five-chamber systolic view when she was 13 years old with typical obstructive hypertrophic cardiomyopathy with a dynamic subaortic gradient of 64 mm Hg (I).
Mentions: This hypothesis came from the evaluation of informative families carrying mutations in one of the most relevant functional domains of β myosin heavy chain: the converter region, located between amino acids 709–777 of the protein.7Figure 1 summarises one of those families, described below, characterised by malignant disease with a marked phenotypical variability.

Bottom Line: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival.Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations.

View Article: PubMed Central - PubMed

Affiliation: Health in Code, A Coruña, Spain.

Show MeSH
Related in: MedlinePlus