Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa

Circulation: Heart Failure

Volumn 5, Issue 5, 2012, Pages

  Ryan, Thomas D ^a   Ware, Stephanie M ^a   Lucky, Anne W ^a   Towbin, Jeffrey A ^a   Jefferies, John L ^a   Hinton, Robert B ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cardiomyopathy; Genetics; Heart failure; Imaging; Pediatrics

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GASTROSTOMY; HUMAN; IMMUNOFLUORESCENCE TEST; MALE; NOTE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; SCHOOL CHILD; VENTRICULAR NONCOMPACTION;

AORTA; CHILD; DILATATION, PATHOLOGIC; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MYOCARDIUM; PHENOTYPE; SKIN;

EID: 84868638909     PISSN: 19413289     EISSN: 19413297     Source Type: Journal    
DOI: 10.1161/CIRCHEARTFAILURE.112.969675     Document Type: Note

References (4)

1. Lara-Corrales I, Mellerio JE, Martinez AE, Green A, Lucky AW, Aziz-khan RG, Murrell DF, Agero AL, Kantor PF, Pope E. Dilated cardio-myopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol. 2010;27:238-243.
2. Towbin JA. Left ventricular noncompaction: a new form of heart failure. Heart Fail Clin. 2010;6:453-69, viii.
3. Spinale FG. Myocardial matrix remodeling and the matrix metallopro-teinases: influence on cardiac form and function. Physiol Rev. 2007;87:1285-1342. (Pubitemid 350041472)
4. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011;103:167-170.