Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

Wessels, Marja W.; Laar, Ingrid M.B.H. van de; Roos‐Hesselink, Jolien W.; Strikwerda, Sipke; Majoor‐Krakauer, Danielle; Vries, Bert B.A. de; Kerstjens-Frederikse, Wilhelmina S.; Vos, Yvonne J.; Graaf, Bianca M. de; Bertoli‐Avella, Aida M.; Willems, Patrick J.

doi:10.1002/ajmg.a.32594

Cited by 6 publications

(5 citation statements)

References 107 publications

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“…This finding suggests that the genetic relationship between HLHS and BAV may not be as strong as has been presumed (439) and suggests that future genetic studies should focus on specific phenotypes to reduce background noise. In addition, several studies have questioned simple Mendelian inheritance of HLHS and BAV (428,434,438,440,441) and suggested they are complex traits.…”

Section: Other Topicsmentioning

confidence: 99%

Hypoplastic Left Heart Syndrome

Feinstein

Benson

Dubin

et al. 2012

Journal of the American College of Cardiology

439

176

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In the recent era, no congenital heart defect has undergone a more dramatic change in diagnostic approach, management, and outcomes than hypoplastic left heart syndrome (HLHS). During this time, survival to the age of 5 years (including Fontan) has ranged from 50% to 69%, but current expectations are that 70% of newborns born today with HLHS may reach adulthood. Although the 3-stage treatment approach to HLHS is now well founded, there is significant variation among centers. In this white paper, we present the current state of the art in our understanding and treatment of HLHS during the stages of care: 1) pre-Stage I: fetal and neonatal assessment and management; 2) Stage I: perioperative care, interstage monitoring, and management strategies; 3) Stage II: surgeries; 4) Stage III: Fontan surgery; and 5) long-term follow-up. Issues surrounding the genetics of HLHS, developmental outcomes, and quality of life are addressed in addition to the many other considerations for caring for this group of complex patients.

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Section: Other Topicsmentioning

confidence: 99%

Hypoplastic Left Heart Syndrome

Feinstein

Benson

Dubin

et al. 2012

Journal of the American College of Cardiology

439

176

View full text Add to dashboard Cite

show abstract

“…As discussed recently by Wessels et al [2009], non‐syndromic hereditary valve disease can be classified anatomically as either left sided, right sided, or bilateral. In this schema XCVD is bilateral as all four cardiac valves can be variably involved.…”

Section: Discussionmentioning

confidence: 99%

Preparation of porous poly(3‐hexylthiophene) by freeze‐dry method and its application to organic photovoltaics

Huang

Chang

Chou

2011

J of Applied Polymer Sci

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Poly(3-hexylthiophene)(P3HT) with a microporous network structure was prepared from a 1% p-xylene solution by freeze-dry method. Scanning electron microscopy (SEM) showed P3HT molecules formed swollen gel-like structures with different extent of compactness depending on the length of the aggregation period. Absorption spectrum of this P3HT film showed a characteristic peak at 620 nm, which indicated a high degree of order between polymer chains. Photoluminescence (PL) of this highly ordered P3HT film appeared at 712 nm revealing large extent of p-p stacking between P3HT molecules in the freeze-dry film. Both absorption and photoluminescence results indicated that the original aggregated states of P3HT molecules in gel form had been preserved throughout the freeze-dry operation. X-ray diffraction of the annealed samples showed a strong characteristic peak for the side chain aggregation at 2y ¼ 5.1 , which proved that the freeze-dry film was with highly order structure. The interconnected and highly ordered P3HT film is used in the study of organic photovoltaics (OPV) after applying an n-type semiconductor to the surface of the dry porous fibers. A prototype OPV device with power conversion efficiency of 1.47% was prepared by this method.

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“…As discussed recently by Wessels et al [2009], non-syndromic hereditary valve disease can be classified anatomically as either left sided, right sided, or bilateral. In this schema XCVD is bilateral as all four cardiac valves can be variably involved.…”

Section: Xcvd In Relation To Other Forms Of Nonsyndromic Hereditary Vmentioning

confidence: 99%

Familial cardiac valvulopathy due to filamin A mutation

Bernstein

Hehr

et al. 2011

American J of Med Genetics Pt A

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We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve disease is presumed to be a rare disorder, it is likely underdiagnosed. Several features of this condition may aid in its identification. FLNA related valvular disease can be recognized on the basis of its distinctive inheritance, early age of onset, and frequent multi-valve involvement.

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Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

Cited by 6 publications

References 107 publications

Hypoplastic Left Heart Syndrome

Hypoplastic Left Heart Syndrome

Preparation of porous poly(3‐hexylthiophene) by freeze‐dry method and its application to organic photovoltaics

Familial cardiac valvulopathy due to filamin A mutation

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