GENETIC CAUSES OF DILATED

Supplemental material

Valentina Favalli, BME, PhD, Alessandra Serio, MD, Maurizia Grasso, PhD, Eloisa Arbustini, MD, FESC

Centre for Inherited Cardiovascular Diseases. IRCCS Foundation University Hospital Policlinico San Matteo, Pavia, Italy.

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Table 1 Suppl. lists nuclear associated (at least one published family) with DCM and those that may also cause Hypertrophic Cardiomyopathy (HCM), Restrictive Cardiomyopathy (RCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), and Left Ventricular Non Compaction (LVNC). A simple view of the table gives immediate major messages: 1) DCM shows the highest genetic heterogeneity. 2) Only 41 (Column G) of the 92 DCM genes (Column C) (about 50%) have a DCM phenotype number in OMIM. This is relevant because querying OMIM by phenotype (DCM) gives an incomplete list of potential disease genes. PubMed search contains reports describing DCM associated with the corresponding . 3) Cardiologists should be aware that genes that cause DCM may also cause other diseases/syndromes (Column D) 4) Genes associated with DCM reported once or very recently may not have a corresponding DCM OMIM phenotype number. 5) The fact that genes causing DCM may also cause other types of cardiomyopathy does not give the proportion of genes associated with the different . Genetic epidemiology of cardiomyopathies is sill far from being complete. A B C D E F G H D : DCM MIM # MIM Edit H: HCM DCM History Nuclear R: RCM Phenotypes/diseases allelic at the same Inheritance MIM* Gene Phenotype genes A: ARVC NC: LVNC ATP-Binding Cassette, Subfamily C, 608569 02/07/2013 ABCC9 D Cantu Syndrome; Atrial Fibrillation. AD 601439 Member 9 Limatin (-binding LIM domain 06/23/2009 ABLIM1 D / NC AD 602330 protein) ACTC1 Cardiac actin alpha D / H / R /NC Nemaline AD 102540 613424 06/07/2010 ACTN2 Alpha- 2 D / H / NC AD 102573 612158 05/26/2015 ALMS1 ALMS1 D Alstrom Syndrome (70%: DCM) AR 606844 08/17/2015 Limb girdle , Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 02/20/2014 ANO5 Anoctamin 5 D AR 608662 3; Dysphagia repeat domain-containing protein 01/31/2007 ANKRD1 D / H AD 609599 1 BAG3-related myofibrillar myopathy, CRYAB-related myofibrillar myopathy, fatal infantile 613881 04/24/2015 BAG3 BCL2-associated athanogene D / H AD 603883 hypertrophy, CALR3 Calreticulin 3 D / H AD 611414 07/22/2015 Catecholaminergic polymorphic ventricular tachycardia 2 04/08/2015 CASQ2 Calsequestrin 2 D / NC AD 114251

sCPK elevated; LQT syndrome-9; Muscular dystrophy, limb-girdle; Myopathy, distal, 04/10/2013 CAV3 Caveolin3 D / H AD 601253 Tateyama type; Rippling muscle disease. CHKB Kinase Beta D Muscular dystrophy, congenital, megaconial type (AR) AD,AR 612395 05/07/2015 CHRM2 Acethycholine receptors, muscarinic 2 D AD 118493 03/13/2012 CRYAB Alpha B crystallin D / H / R Cataract, multiple types; Myofibrillar myopathy, AD 123590 615184 06/23/2016 CSRP3 Cysteine- and glycine-rich protein 3 D / H AD 600824 607482 04/21/2015 CTF1 Cardiotrophin 1 D AD 600435 06/05/2007 CTNNA3 Alpha3- D / A AD 607667 12/15/2014 Des-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type; 604765 02/09/2015 DES D / H / R / A AD, AD 125660 AVB, sCPK DAG1 associated 1 D Muscular dystrophy-dystroglycanopathy AR 128239 09/04/2015

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DMD Dystrophin D Duchenne Muscle Dystrophy, Becker Muscle dystrophy XLR 300377 302045 07/09/2016 DMPK Dystrophia myotonica protein kinase gene D (Dystrophia Myotonica type 1) or Steinert's disease AD 605377 07/21/2015 DOLK Dolichol Kinase D Congenital disorder of glycosylation, type II AR 610746 02/21/2014 DSC2 Desmocollin 2 D / A With and without mild palmoplantar and woolly hair AD 125645 06/08/2016 DSG2 Desmoglein 2 D / A AD 125671 612877 08/04/2015 DCM with with woolly hair, keratoderma, and tooth agenesis; DCM with woolly hair and 605676 04/11/2016 DSP D / A keratoderma. Lethal acantholytic epidermolysis bullosa. Keratosis palmoplantaris striata AD, AR 125647 615821 II. Skin fragility-woolly hair syndrome DTNA , alpha NC ARVC with or without congenital heart defects AD 601239 05/07/2015 EMD Emerin D EDMD1, X-linked; AVB, Myopathy, sCPK XLR 300384 04/14/2015 EYA4 Eyes absent 4 D Deafness, autosomal dominant AD 603550 605362 08/10/2009 EDMD 6, X-linked, Myopathy, reducing body, childhood-onset and severe early-onset, 10/30/2015 FHL1 Four-and-a-half LIM domains 1 D / H XLR, XLD 300163 Myopathy with postural , Scapuloperoneal myopathy FHL2 Four-and-a-half LIM domains 2 D AD 602633 11/18/2011 FHOD3 FH1/FH2 Domain-containing protein 2 D AD 609691 04/02/2010 Muscular dystrophy-dystroglycanopathy (types: congenital with brain and eye anomalies; 611615 10/02/2015 FKTN D AR 607440 congenital without mental retardation; limb-girdle) GATA4 GATA-Binding protein 4 D Congenital heart diseases (ASD, AVSD, VSD, Tetralogy of Fallot) AD 600576 12/08/2015 GATA5 GATA-Binding protein 5 D AD 611496 02/14/2013 GATA6 GATA-Binding protein 5 D Congenital heart diseases (ASD, AVSD, Tetralogy of Fallot, Persistent truncus arteriosus) AD, AR 601656 09/17/2014 GATA Zinc Finger Domain Containing 614672 04/22/2015 GATAD1 D AR 614518 Protein 1 ILK Integrin-linked kinase D AD 602366 04/07/2014 JPH2 Junctophilin2 H AD 605267 02/03/2012 JUP (DP3) , Desmoplakin III D / A Naxos traits AD, AR 173325 10/01/2015 LAMA2 Laminin Alpha, 2 D Congenital merosin-deficient muscular dystrophy type 1A AR 156225 04/02/2009 LAMA4 Laminin Alpha, 4 D AD 600133 615235 05/16/2013 LDB3 LIM domain-binding 3 D / H / NC ZASP-related myofibrillar myopathy; LVNC, possiblesCPK; Hypertrabeculation; AD 605906 601493 07/11/2016 DCM with conduction disease plus 11 additional phenotypes; AVB; possible sCPK. 12 115200 10/29/2015 LMNA AC D / A / NC AD, AR 150330 phenotypes allelic at the same locus. MIB1 Midbomb, homolog of , NC AD 608677 11/06/2013 MYBPC3 -binding protein C D / H / NC AD 600958 615396 06/26/2015 MYH6 Alpha-myosin heavy chain 6 D / H Atrial septal defect; Sick sinus syndrome AD 160710 613252 01/29/2014 Laing distal myopathy; Myosin storage myopathy; Scapuloperoneal syndrome, myopathic 613426 03/03/2016 MYH7 Beta-myosin heavy chain 7 D / H / R / NC AD, AR 160760 type; possible sCPK MYH7B Myosin Heavy Chain 7B H / NC ? AD, AR 609928 10/25/2010 MYL2 2 D / H AD 160781 03/02/2012 MYL3 Myosin Light Chain 3 D / H / R AD, AR 160790 10/01/2014 MYOZ1 Myozenin 1, D / H AD 605603 04/03/2014 MYOZ2 Myozenin 2 H AD 605602 04/24/2015 3

MYPN Myopalladin D / H / R AD 608517 615248 04/21/2015 NEBL D AD 605491 10/08/2012 NEXN Nexilin D / H AD 613121 613122 06/11/2012 NK2 homeoboL 5; cardiac specific Possible conduction system disease; congenital heart diseases; hypothyroidism, 07/23/2015 NKX2-5 D AD 600584 homeoboL 1 congenital nongoitrous OBSCN Obscurin D / NC AR, AR 608616 07/30/2008 PDLIM3 PDZ and LIM domain protein 3 D AD 605889 10/11/2013 PLN D / H / A AR 172405 609909 05/20/2011 Pleckstrin Homology Domain containing 04/01/2014 PLEKHM2 D / NC AR 609613 Protein, Family M, Member 2 PKP2 2 D / A AD 602861 01/04/2010 PRDM16 PR Domain Protein 16 D / NC AD 609613 615373 03/03/2016 Acne inversa, familial, 3, Alzheimer disease, type 3, Frontotemporal dementia, Pick 613694 04/25/2016 PSEN1 Presenilin 1 D AD 104311 disease PSEN2 Presenilin 2 D Alzheimer disease, type 4 AD 600759 613697 02/26/2015 RBM20 RNA-binding motif protein 20 D AD 613171 613172 05/18/2015 RYR2 Ryanodine receptor 2 D / A / NC Ventricular tachycardia, catecholaminergic polymorphic, 1 AD 180902 06/02/2011 Sodium channel, voltage gated, type V, 601154 05/24/2016 SCN5A D LQT3, Brugada1, Atrial Fibrillation, Sick Sinus Syndrome, Familial VF AD, AR 600163 alpha subunit SGCD Delta- D Limb-girdle muscular dystrophy AD 601411 606685 0 8/17/2015 Nesprin 1, Synaptic nuclear envelop 11/13/2014 SYNE1 D EDMD4, AD; , autosomal recessive AD, AR 608441 protein 1 Holt-Oram syndrome 06/30/2015 TBX5 T-Box5 D AD 601620

TCAP -cap; D / H Muscular dystrophy, limb-girdle, type 2G; sCPK AD, AR 604488 05/26/2015 TCF21 factor 21, epicardin D Hearing loss AD 603306 01/19/2016 Rienhoff Syndrome or Loeys-Dietz syndrome 5 07/16/2015 TGFB3 D / A AD 190230

TMEM43 Transmembrane Protein 43 D / A Emery-Dreifuss muscular dystrophy AD 612048 12/02/2013 Thymopoietin; Lamina-associated 613740 05/01/2014 TMPO D AD 188380 polypeptide 2 (LAP2) TNNC1 Cardiac C D / H / R AD 191040 611879 12/04/2012 Cardiac troponin I3 611880 01/11/2016 TNNI3 D / H / R / NC AD, AR 191044 613286 TNNI3K TNNI3-Interacting Kinase D 613932 616117 01/29/2015 TNNT2 Cardiac troponin T2 D / H / R / NC AD 191045 601494 11/03/2010 TPM1 1 D / H / R / NC AD 191010 611878 04/16/2014 Limb-girdle muscular dystrophy. Early-onset myopathy with fatal cardiomyopathy, 604145 06/09/2016 188840 TTN Titin D / H / A Proximal Myopathy with early respiratory muscle involvement, Tardive tibial muscular AD, AR

dystrophy VCL D / H AD 193065 611407 04/17/2013 Nuclear genes coding mitochondrial 4

AGK Acylglycerol Kinase D / H Cataract, Myopathy, Senger Syndrome AR 610345 07/22/2015 ANT1 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), AD-PEO with 615418 07/29/2015 Adenin Nucleotide Translocator 1 D / H AD, AR 103220 (PEOA2) multiple mtDNA deletions COX10 Cytochome C Oxidase Assembly Leigh syndrome due to mitochondrial COX4 deficiency 03/10/2016 D Protein, 10 AR 602125 COX15 Cytochome C Oxidase Assembly 615119 03/10/2016 D / H Cardioencephalomyopathy, fatal infantile, due to COX deficiency 2 Protein, 15 AR 603646 DNAJC19 DNAJ/HSP40 Homolog, Subfamily C, 3-methylglutaconic aciduria type V AR 03/18/2014 D / NC 608977 Member19 FXN Frataxin D / H Friedreich ataxia, Friedreich ataxia with retained reflexes AR 606829 09/20/2013 G4.5 D / H / NC XLR 300394 04/01/2016 NAD-Ubiquinone AR 07/22/2014 D / H NDUFS2 Fe-S Protein 2 Encephalopathy, Mt complex I deficiency 602985 NAD-Ubiquinone Oxidoreductase 05/06/2014 D / H NDUFV2 Flavoprotein2 , encephalopathy, Mt complex I deficiency AR 600532 POLG Alpers-type syndrome, MNGIE-type, AD-PEO and AR-PEO, SANDO syndrome, SCAE 03/28/2016 DNA Polymerase  D / H AD, AR 174763 (PEOA1) SCO2 Homolog of S Cervisiae, 2 D / H Fatal infantile cardioencephalomyopathy, due to COX1 deficiency AR 604272 604377 08/20/2015 SDHA Succinate Dehydrogenase Comple x 613642 09/24/2015 D Leigh syndrome, Mitochondrial respiratory chain complex II deficiency, Paragangliomas AR 600857 Subunit A Mitochondrial complex V (ATP 05/21/2015 TMEM70 D / H Neonatal mitochondrial encephalocardiomyopathy with ATP synthase deficiency AR 612418 synthase) deficiency, nuclear type 2 PTPN11 Protein Tyrosin , non Noonan Syndrome type 1; LEOPARD type 1 AD 176876 04/09/2015 D / H receptor type11 KRAS V-KI-RAS2 Kirsten Rat Sarcoma Viral Noonan Syndrome type 3; Cardio-facio-cutaneous syndrome 2 AD 190070 02/17/2016 H Homolog RAF1 V-RAF-1 Murine Leukemia Viral Noonan syndrome 5, LEOPARD syndrome 2 AD 164760 615916 02/17/2016 D / H Oncogene Homolog1 NRAS Neuroblastoma RAS Viral Oncogene Noonan syndrome 6 AD 164790 09/01/2015 H Homolog RIT1 Ric-Like Protein without CAAL Noonan syndrome 8 AD 609591 05/14/2015 H Motif1

DCM ; HCM hypertrophic cardiomyopathy; RCM restrictive cardiomyopathy; ARVC arrhythmogenic right ventricular cardiomyopathy; LVNC left ventricular non compaction; MIM Mendelian Inheritance in Man; AD autosomal dominant; LQT long QT; sCPK serum creatine phosphokinase; AR autosomal recessive AVB atrioventricular block; XLR X-Linked recessive; EDMD Emery-Dreifuss muscular dystrophy; XLD X-Linked dominant; ASD atrial septal defect, AVSD atrio-ventricular septal defect, VSD ventricular septal defect, VF ventricular fibrillation; SCAE spinocerebellar ataxia with ; SANDO sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; ATP . OMIM (http://www.omim.org/ ) last accessed 07/12/2016.

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Table 2 Suppl.

Mutations identified in mitochondrial DNA. Source: MITOMAP*.  in Mitochondrial DNA cause clinically heterogeneous disorders that often affect the heart.  The inheritance is matrilineal: female transmit the to both males and females; males do not transmit mitochondrial mutations.  The mutational load/organ-tissue (heteroplasmia) is one of the reasons why patients carriers of the same mutation may show involvement of different organs.

D:DCM MtDNA genes* Allele H:HCM Syndromes/Phenotypes Gene NC:LVNC MTTL1 A3260G D / H MMC/MELAS tRNALeu(UUR) MTTL1 C3303T D / H MMC tRNALeu(UUR) MTTL1 A3243G MELAS / LS / DMDF / MIDD / SNHL / CPEO / MM / FSGS / Cardiac + multiorgan tRNALeu(UUR) D / H / NC dysfunction MTTL1 A3243T D / H MM / MELAS / SNHL / CPEO tRNALeu(UUR) MTTL1 G3244A H MELAS tRNALeu(UUR) MTTL1 G3242A D / H MM / HCM+renal tubular dysfunction tRNALeu(UUR) MTTL1 A3252G D / H Exercise Intolerance MELAS tRNALeu(UUR) MTTL1 T3258C D / H MELAS/myopathy tRNALeu(UUR) MTTL1 A3280G D / H Myopathy tRNALeu(UUR) MTTL2 T12297C D DCM / Leight Syndrome/ Failure to Thrive , LA tRNALeu(CUN) MTTI A4269G D / H FICP tRNAIle MTTI A4295G H MHCM / Maternally inherited hypertension tRNAIle MTTI A4300G D / H MICM tRNAIle MTTI A4316G H HCM with hearing loss/poss. hypertension factor tRNAIle MTTI A4317G D / H FICP/ poss. hypertension factor tRNAIle MTTI G4284A D / H Varied familial presentation/spastic paraparesis tRNAIle MTTI A4317G D / H FICP / poss. hypertension factor tRNAIle MTTI C4320T H Mitochondrial Encephalocardiomyopathy tRNAIle MTTI 4322dupC D Mitochondrial Encephalocardiomyopathy tRNAIle MTTK A8344G D / H MERRF Other - LD / Depressive mood disorder / leukoencephalopathy / HCM tRNALys MTTK A8348G D / H Cardiomyopathy / SNHL / hypertension factor tRNALys MTTK G8363A D / H MERRF/MICM+DEAF/Autism/ LS / Ataxia+Lipomas tRNALys MTTG T9997C D MHCM tRNAGly MTTH G12192A D MICM tRNAHis MTTP T16032TTCTCTGTTCTTTCAT D DCM tRNAPro MTTQ T4373C D / NC Possibly LVNC-associated tRNAGln MTTV C1624T D / H Leigh syndrome tRNAVal MTTV G1644T H Adult Leigh Syndrome tRNAVal MTTV G1644A H HCM/MELAS tRNAVal MTRNR2 C3093G H MELAS 16S rRNA MTRNR1 T1391C H Found in 1 HCM patient 12S rRNA MTRNR1 C1556T H Found in 1 HCM patient 12S rRNA MTCYB G15243A (G166E) D / H HCM MTCYB MTCYB G15498A (G251D) D / H HCM / WPW, DEAF MTCYB MTCYB T15693C (M-T) NC Possibly LVNC cardiomyopathy-associated MTCYB MTCO1 T6721C (M273T) D / H Idiopathic Sideroblastic Anemia MTCO1 MTCO1 T6742C (I280T) D / H Idiopathic Sideroblastic Anemia MTCO1 MTND4 A12026G (I423V) D / H Diabetes Mellitus MTND4 MTRNR1 T921C NC Possibly LVNC-associated 12S rRNA MTRNR1 T850C NC Possibly LVNC-associated 12S rRNA MTRNR1 T961C NC DEAF, possibly LVNC-associated 12S rRNA MTRNR2 T2352C NC Possibly LVNC-associated 16S rRNA MTRNR2 G2361A NC Possibly LVNC-associated 16S rRNA MTRNR2 A2755G NC Possibly LVNC-associated 16S rRNA * http://www.mitomap.org/MITOMAP, last accessed 07/12/2016. DCM Dilated Cardiomyopathy; HCM Hypertrophic Cardiomyopathy; LVNC: Left Ventricular Non Compaction; MMC and Cardiomyopathy.; MHCM Maternally Inherited Hypertrophic Cardiomyopathy; LD or LS Leigh Disease or Syndrome; MICM Maternally Inherited Cardiomyopathy; DMDF Diabetes 6 mellitus and deafness; MIDD Maternally Inherited Diabetes and Deafness; SNHL Sensorineural Hearing Loss; CPEO Chronic Progressive Ophthalmoplegia; MM Mitochondrial Myopathy; FSGS Focal Segmental Glomerulosclerosis; FICP Fatal Infantile Cardiomyopathy Plus, a MELAS associated cardiomyopathy; MERRF Myoclonic Epilepsy and Ragged Red Muscle Fibers; MELAS Mitochondrial Encephalomyopathy, , and Stroke-like episodes; WPW Wolf-Parkinson White; DEAF Maternally inherited deafnessness or aminoglycoside-induced deafness; SANDO Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia; SCAE spinocerebellar ataxia with epilepsy.

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Table 3 Suppl.

Disorders of the glycogen , lysosomal storage diseases and disorders of and organic acid metabolism and DCM phenotype. Major messages from this table are: 1) most diseases affect children 2) inheritance is autosomal recessive in most cases 3) the prevalent cardiac phenotype is HCM that may progress through LV dilation and dysfunction 4) there is no specific phenotype number for DCM in the OMIM catalogue 5) mutations in these genes have never been associated with isolated DCM; the MIM# numbers refer to the syndromes.

A B C D E F G H Nuclear D: DCM Inheritance MIM*gene Phenotype MIM Edit Protein Phenotypes/diseases genes H: HCM MIM # History ACAT1 Acetyl-CoA- 1 D β-ketothiolase deficiency AR 607809 203750 08/18/2015 AGA Aspartylglucosaminidase H AR 613228 208400 07/07/2015 AGL Amylo-1,6-glucosidase 4-alpha-glucanotransferase H GSDIII (Forbes or Cori disease, glycogen debranching ) AR 610860 232400 07/22/2015 AGXT Alanine-Glyoxylate Aminotransferase H Hyperoxaluria I (Oxalosis I) AR 604285 259900 05/28/2014 ARSA D / H Metachromatic leucodystrophy. MVD, CAD AD 607574 250100 02/26/2015 ARSB D MPS VI (Maroteux-Lamy syndrome) AR 611542 253200 04/30/2015 CTSA Cathepsin A D / H Galatosialidosis ,Goldberg syndrome (cathepsin A defect) AR 613111 256540 04/14/2015 FAH Fumarylacetoacetate H Tyrosinemia I AR 613871 276700 06/29/2015 FUCA1 AlphaL-1- D AR 612280 230000 04/21/2011 GAA Alpha Glucosidase H Glycogen storage disease II AR 606800 232300 05/08/2014 GALNS Galactosamine-6-Sulfate H MPS IV A () AR 612222 253000 09/28/2015 GBE1 Glycogen Branching Enzyme D / H GSD IV; Polyglucosan body disease, adult form AR 607839 263570 05/02/2016 GLA α-galactosidase H Anderson-Fabry Disease XL 300644 301500 12/18/2013 GLB1 H MPS IV B (Morquio syndrome); AR 611458 253010 02/12/2014 GM1-gangliosidoses (I) 230500 β-galactosidase 1 GM1-gangliosidoses (II) 230600 GM1-gangliosidoses (III) 230650 GNPTAB N-Acetylglucosamine-1- D II, Alpha-Beta AR 607840 252500 08/17/2015 GNS N-Acetylglucosamine-6-Sulfatase H MPS III D ( D) AR 607664 252940 02/12/2014 GRHPR Glyoxylate Reductase/Hydroxypyrivate Reductase H Hyperoxaluria II (Oxalosis II) AR 604296 260000 05/05/2015 GUSB Beta-Glucuronidase H MPS VII () AR 611499 253220 03/12/2015 GYS1 Glycogen Synthase 1 H GSD 0 (muscle) (muscle glycogen synthase AR 138570 611556 05/12/2014 HEXB B D / H GM2 () AR 606873 268800 12/30/2014 HGD Homogentisate 1,2-Dioxygenase H Alkaptonuria (homogentisate 1,2-dehydrogenase deficit) AR 607474 203500 05/08/2015 HGSNAT H MPS III C (Sanfilippo syndrome C) AR 610453 252930 05/06/2016 Heparan-alpha-glucosaminide N-Acetyltransferase ; Retinitis pigmentosa 616544 IDUA Alpha-L- D / H MPS Ih (Hurler), AR 252800 607014 07/09/2016 8

MPS Ih/s (Hurler/Scheie), 607015 MPS Is (Scheie) (iduronidase deficiency) 607016 IDS Iduronate 2-Sulfatase H MPS II () (iduronate 2-sulfatase deficiency) XLR 300823 309900 02/12/2014 LAMP2 -associated membrane protein 2 D / H Danon disease XL 309060 300257 01/19/2012 MUT Methylmalonyl-CoA Mutase D / H Methylmalonic aciduria AR 609058 251000 07/22/2015 NAGA H , I and III; AR 104170 609242 10/12/2015 N-Acetyl-Alpha-D-Galactosaminidase Kanzaki Disease. 609241 NAGLU H MPS III B (Sanfilippo syndrome B); AR 609701 616491 01/11/2016 N-Acetylglucosaminidase Charcot-Marie-Tooth disease, axonal, type 2V. 252920 PRKAG2 D / H Lethal congenital glycogen storage disease of heart; AD 602743 261740 06/24/2016 PRKAG2-related HCM; 600858 WPW. 194200 PYGM Muscle glycogen phosphorylase D / H GSD V (McArdle disease, glycogen phosphorylase) AR 608455 232600 07/01/2016 SGSH N-Sulfoglucosamine-Sulfohydrolase H MPS III A (Sanfilippo syndrome A) AR 605270 252900 07/13/2015

DCM dilated cardiomyopathy; HCM hypertrophic cardiomyopathy; MIM Mendelian Inheritance in Man; AR autosomal recessive; GSD glycogen storage syndrome; AD autosomal dominant; MVD mitral valve defect; CAD carotid artery dissection; MPS ; XL X-Linked; GM gangliosidosis; WPW Wolf Parkinson White. OMIM (http://www.omim.org/ ) last accessed 07/12/2016.

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