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589 Possible Causes for Cardiomyopathy, low set, Malformed Ears

  • Noonan Syndrome

    Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation[] This condition is associated with short stature, heart defects, bleeding disorders, delayed puberty, and skeletal malformations.[] […] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).[]

  • Patau Syndrome

    The most common characteristics of this syndrome are problems such as late development, mental disability, multiple malformations, cardiomyopathy, and kidney abnormalities[] Nose: absent, malformed or proboscis (prominent). Ears: malformed ears. Eye: structural eye defects (microphthalmia, iris coloboma or even absence of the eyes).[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Turner Syndrome

    […] patients, including five fatal aortic dissections/ruptures ( Table 1 ), five nonfatal coarctations, three pericardial effusions, one congestive heart failure (history of cardiomyopathy[] Hearing and ear problems : Malformation of the ears and middle ear infections that can result in conductive hearing loss are more common in girls with Turner syndrome.[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[]

  • Costello Syndrome

    Costello syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.[] About 63% of patients have cardiovascular malformations, most commonly pulmonic stenosis, hypertrophic cardiomyopathy, and tachyarrhythmia (Lin et al. 2002).[] Costello syndrome is an autosomal dominant disorder comprising growth deficiency, mental retardation, curly hair, coarse facial features, nasal papillomata, low-set ears with[]

  • Systemic Lupus Erythematosus

    Left ventricular noncompaction is a rare structural cardiomyopathy that can occur isolated or in relationship with other conditions, mainly with musculoskeletal diseases or[] Overall, six of 14 malformed offspring had ear abnormalities.[] Default parameters were used with the exception of ‘‘to-large,’’ which was set because of the low sequencing depth of older ChIP-seq datasets.[]

  • Glycogen Storage Disease Type 2

    , lysosomal disease with hypertrophic cardiomyopathy, glycogen storage disease with hypertrophic cardiomyopathy, lysosomal glycogen storage disease Prende il nome da Johannes[] ears; hypertelorism; down-slanting palpebral fissures; high or prominent forehead; broad or prominent nasal bridge; micrognathia; high arched palate; hyperextensible joints[] If left untreated, affected infants often die from hypertrophic cardiomyopathy during their first year of life.[]

  • Microtia

    Disorders Cancer and Blood Disorders Cancer Predisposition Clinic Heart Cardiac Anesthesia Heart Cardiac Catheterization Heart Cardiac Surgery Heart Cardiology Clinic Heart Cardiomyopathy[] Microtia and Ear Anomaly Services Our surgeons also treat infants and children who have congenital ear deformities.[] But to some low-set remnant ears, it is difficult to manipulate the conventional lobule transposition method in clinical application.[]

  • Branchio-Oculo-Facial Syndrome

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a familial form of cardiomyopathy typically caused by mutations in genes that encode an element of the[] We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and[] We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated[]

  • Monosomy 1p36 Syndrome

    […] left ventricular noncompaction cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM).[] Minor cardiac malformations, cardiomyopathy, seizures, and ventricular dilatation are the more common additional findings.[] , long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears[]

  • Trisomy 18

    Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition.[] […] ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.[] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[]

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