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16 Possible Causes for Cardiomyopathy, Overfolded Superior Helix

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.[ncbi.nlm.nih.gov] Cardiac investigations revealed severe dilated cardiomyopathy (DCM). Biochemical work up led to the diagnosis of PA.[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] However, cardiomyopathy is not well characterized in CLS.[ncbi.nlm.nih.gov] Restrictive cardiomyopathy is an uncommon primary cardiomyopathy characterized by biatrial enlargement, normal or decreased biventricular volume, impaired ventricular filling[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] […] carcinoma, childhood-onset Pilomatrixoma Familial retinoblastoma Monosomy 13q14 Unilateral retinoblastoma Autosomal dominant secondary polycythemia Familial isolated dilated cardiomyopathy[csbg.cnb.csic.es]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] Takotsubo Cardiomyopathy Treatment There are no evidence-based guidelines for treating takotsubo cardiomyopathy.[health.harvard.edu] cardiomyopathy.[bhf.org.uk]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] cardiomyopathy.[ncbi.nlm.nih.gov] Cardiac disease, specifically cardiomyopathy, is frequently found in Friedreich's ataxia.[movementdisorders.org]

  • FGFR2-Related Bent Bone Dysplasia

    , Dilated, 1A Cardiomyopathy, Congestive Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Familial Idiopathic Cardiomyopathy, Idiopathic Dilated CMD1A CDCD1[ukgtn.nhs.uk] , dilated Sequencing of all coding exons of the gene Deletion and duplication analysis - 0.9 TNNT2 Cardiomyopathy, familial hypertrophic, 2 Sequencing of all coding exons[cegat.de] 115200 Genetic Test Registry Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism Cardiogenital Syndrome Cardiomyopathy With Primary Testicular Failure Cardiomyopathy[ukgtn.nhs.uk]

  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] Type 3 GM1 gangliosidosis has an age of onset during adulthood and resembles Parkinson disease with symptoms including an unsteady gait and cardiomyopathy.[sema4.com] Common finding in infantile GM1 gangliosidosis are cardiomyopathy, seizures, hepatosplenomegaly and poor feeding.[centogene.com]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] (DCM) PSEN2 Dilated cardiomyopathy (DCM), Peripartum/pregnancy-associated cardiomyopathy SIGMAR1 Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration-motor neuron[genda.com.ar] Febrile seizures Decreased testicular size Abnormal cardiac septum morphology Hydronephrosis Anal atresia Convex nasal ridge Rectourethral fistula Malar flattening Kyphosis Cardiomyopathy[mendelian.co]

  • Auriculocondylar Syndrome

    Narrow mouth Overfolding of the superior helices Postauricular skin tag Posteriorly rotated ears Preauricular skin tag Round face Stenosis of the external auditory canal[dovemed.com] […] right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia/cardiomyopathy , see arrhythmogenic right ventricular cardiomyopathy ARS , see Axenfeld-Rieger[herenciageneticayenfermedad.blogspot.com] helix 0008559 Impaired mastication Chewing difficulties Chewing difficulty Difficulty chewing [ more ] 0005216 Low-set ears Low set ears Lowset ears [ more ] 0000369 Overfolding[rarediseases.info.nih.gov]

  • Uncombable Hair Syndrome

    helix Short chin Myopathic facies Inverted nipples Pain insensitivity Horizontal eyebrow Oval face Overfolding of the superior helices Broad chin Micrognathia Neurological[mendelian.co] Naxos disease ( diffuse palmoplantar keratoderma and right ventricular cardiomyopathy , OMIM ID #601214 ) Noonan syndrome (short stature, congenital heart defect, mental slowness[dermnetnz.org] Broad nasal tip Long face Deeply set eye Delayed myelination Decreased fetal movement Apraxia Muscular hypotonia of the trunk Stereotypy Deep philtrum Poor head control Overfolded[mendelian.co]

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