# A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture

**Authors:** Tiffany Tamse, Avind Rampersad, Alejandro Jordan-Villegas, Jill Ireland

PMC · DOI: 10.1155/2015/538762 · 2015-11-12

## TL;DR

A 17-year-old girl with idiopathic hypereosinophilic syndrome (IHES) experienced severe heart complications requiring emergency treatment and valve replacement.

## Contribution

This case highlights the rare and severe cardiac complication of IHES, emphasizing the importance of early diagnosis and treatment.

## Key findings

- IHES can lead to mitral valve papillary muscle rupture, causing cardiogenic shock.
- Eosinophilic infiltration was confirmed as the cause through valve pathology.
- Steroid treatment improved symptoms, but cardiac involvement in IHES is associated with poor prognosis.

## Abstract

Idiopathic Hypereosinophilic Syndrome (IHES) is a rare disease that can be difficult to diagnose as the differential is broad. This disease can cause significant morbidity and mortality if left untreated. Our patient is a 17-year-old adolescent female who presented with nonspecific symptoms of abdominal pain and malaise. She was incidentally found to have hypereosinophilia of 16,000 on complete blood count and nonspecific colitis and pulmonary edema on computed tomography. She went into cardiogenic shock due to papillary rupture of her mitral valve requiring extreme life support measures including intubation and extracorporal membrane oxygenation (ECMO) as well as mitral valve replacement. Pathology of the valve showed eosinophilic infiltration as the underlying etiology. The patient was diagnosed with IHES after the exclusion of infectious, rheumatologic, and oncologic causes. She was treated with steroids with improvement of her symptoms and scheduled for close follow-up. In general patients with IHES that have cardiac involvement have poorer prognoses.

## Linked entities

- **Diseases:** Idiopathic Hypereosinophilic Syndrome (MONDO:0011895), colitis (MONDO:0005292), pulmonary edema (MONDO:0006932), cardiogenic shock (MONDO:0800175)

## Full-text entities

- **Genes:** SMC1A (structural maintenance of chromosomes 1A) [NCBI Gene 8243] {aka CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1}, SRSF2 (serine and arginine rich splicing factor 2) [NCBI Gene 6427] {aka PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b}, MPL (MPL proto-oncogene, thrombopoietin receptor) [NCBI Gene 4352] {aka C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR}, SMC3 (structural maintenance of chromosomes 3) [NCBI Gene 9126] {aka BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1}, RAD21 (RAD21 cohesin complex component) [NCBI Gene 5885] {aka CDLS4, HR21, HRAD21, MCD1, MGS, NXP1}, ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 25] {aka ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}, MYD88 (MYD88 innate immune signal transduction adaptor) [NCBI Gene 4615] {aka IMD68, MYD88D, WM1}, CBLB (Cbl proto-oncogene B) [NCBI Gene 868] {aka ADMIO3, Cbl-b, Nbla00127, RNF56}, U2AF1 (U2 small nuclear RNA auxiliary factor 1) [NCBI Gene 7307] {aka FP793, RN, RNU2AF1, U2AF35, U2AFBP}, DNMT3A (DNA methyltransferase 3 alpha) [NCBI Gene 1788] {aka DNMT3A2, HESJAS, M.HsaIIIA, TBRS}, PHF6 (PHD finger protein 6) [NCBI Gene 84295] {aka BFLS, BORJ, CENP-31}, NRAS (NRAS proto-oncogene, GTPase) [NCBI Gene 4893] {aka ALPS4, CMNS, N-ras, NCMS, NRAS1, NS6}, CALR (calreticulin) [NCBI Gene 811] {aka CALR1, CRT, HEL-S-99n, RO, SSA, cC1qR}, IDH2 (isocitrate dehydrogenase (NADP(+)) 2) [NCBI Gene 3418] {aka D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP}, KMT2A (lysine methyltransferase 2A) [NCBI Gene 4297] {aka ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX}, ASXL1 (ASXL transcriptional regulator 1) [NCBI Gene 171023] {aka BOPS, MDS}, ASS1 (argininosuccinate synthase 1) [NCBI Gene 445] {aka ASS, CTLN1}, CSF3R (colony stimulating factor 3 receptor) [NCBI Gene 1441] {aka CD114, GCSFR, SCN7}, ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2) [NCBI Gene 8233] {aka OFD21, U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZC3H22}, CD19 (CD19 molecule) [NCBI Gene 930] {aka B4, CVID3}, GATA2 (GATA binding protein 2) [NCBI Gene 2624] {aka DCML, IMD21, MONOMAC, NFE1B}, WT1 (WT1 transcription factor) [NCBI Gene 7490] {aka AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1}, TET2 (tet methylcytosine dioxygenase 2) [NCBI Gene 54790] {aka IMD75, KIAA1546, MDS}, JAK2 (Janus kinase 2) [NCBI Gene 3717] {aka JTK10}, IGHE (immunoglobulin heavy constant epsilon) [NCBI Gene 3497] {aka IgE}, KDM6A (lysine demethylase 6A) [NCBI Gene 7403] {aka KABUK2, UTX, bA386N14.2}, IKZF1 (IKAROS family zinc finger 1) [NCBI Gene 10320] {aka CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, PDGFRB (platelet derived growth factor receptor beta) [NCBI Gene 5159] {aka CD140B, IBGC4, IMF1, JTK12, KOGS, OPDKD}, BCORL1 (BCL6 corepressor like 1) [NCBI Gene 63035] {aka BCoR-L1, CXorf10, SHUVER}, TRIM21 (tripartite motif containing 21) [NCBI Gene 6737] {aka RNF81, RO52, Ro/SSA, SSA, SSA1, TRIM21/Ro52}, CD79A (CD79a molecule) [NCBI Gene 973] {aka IGA, IGAlpha, MB-1, MB1}, CEBPA (CCAAT enhancer binding protein alpha) [NCBI Gene 1050] {aka C/EBP-alpha, CEBP}, FBXW7 (F-box and WD repeat domain containing 7) [NCBI Gene 55294] {aka AGO, CDC4, DEDHIL, FBW6, FBW7, FBX30}, BCR (BCR activator of RhoGEF and GTPase) [NCBI Gene 613] {aka ALL, BCR1, CML, D22S11, D22S662, PHL}, STAG2 (STAG2 cohesin complex component) [NCBI Gene 10735] {aka HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}, HRAS (HRas proto-oncogene, GTPase) [NCBI Gene 3265] {aka C-BAS/HAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV}, NOTCH1 (notch receptor 1) [NCBI Gene 4851] {aka AOS5, AOVD1, TAN1, hN1}, CD8A (CD8 subunit alpha) [NCBI Gene 925] {aka CD8, CD8alpha, IMD116, Leu2, p32}, RUNX1 (RUNX family transcription factor 1) [NCBI Gene 861] {aka AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1}, CBLC (Cbl proto-oncogene C) [NCBI Gene 23624] {aka CBL-3, CBL-SL, RNF57}, SF3B1 (splicing factor 3b subunit 1) [NCBI Gene 23451] {aka Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155}, PTPN11 (protein tyrosine phosphatase non-receptor type 11) [NCBI Gene 5781] {aka BPTP3, CFC, JMML, METCDS, NS1, PTP-1D}, JAK3 (Janus kinase 3) [NCBI Gene 3718] {aka JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK}, SETBP1 (SET binding protein 1) [NCBI Gene 26040] {aka MRD29, SEB}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, CUX1 (cut like homeobox 1) [NCBI Gene 1523] {aka CASP, CDP, CDP/Cut, CDP1, COY1, CUTL1}, ETV6 (ETS variant transcription factor 6) [NCBI Gene 2120] {aka TEL, TEL/ABL, THC5}, FLT3 (fms related receptor tyrosine kinase 3) [NCBI Gene 2322] {aka CD135, FLK-2, FLK2, STK1}, NPM1 (nucleophosmin 1) [NCBI Gene 4869] {aka B23, NPM}, FIP1L1 (factor interacting with PAPOLA and CPSF1) [NCBI Gene 81608] {aka FIP1, Rhe, hFip1}, FGFR1 (fibroblast growth factor receptor 1) [NCBI Gene 2260] {aka BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, GATA1 (GATA binding protein 1) [NCBI Gene 2623] {aka CNSHA9, ERYF1, GATA-1, GF-1, GF1, HAEADA}, EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) [NCBI Gene 2146] {aka ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS}, PDGFRA (platelet derived growth factor receptor alpha) [NCBI Gene 5156] {aka CD140A, PDGFR-2, PDGFR2}, CD4 (CD4 molecule) [NCBI Gene 920] {aka CD4mut, IMD79, Leu-3, OKT4D, T4}
- **Diseases:** chest pain (MESH:D002637), neurologic involvement (MESH:C538190), dyspnea (MESH:D004417), end organ damage (MESH:C564816), chromosomal abnormalities (MESH:D002869), Hepatitis A (MESH:D056486), endocarditis (MESH:D004696), murmur (MESH:D006337), pruritic papules (MESH:C535817), cardiogenic shock (MESH:D012770), hypoxic (MESH:D002534), edema (MESH:D004487), HES (MESH:D017681), malignancy (MESH:D009369), emboli (MESH:D020766), cholangitis (MESH:D002761), cardiomyopathy (MESH:D009202), myocardial necrosis (MESH:D009336), avulsion (MESH:D000071562), pancreatitis (MESH:D010195), bilious emesis (MESH:D014839), fibrosis (MESH:D005355), multiorgan dysfunction syndrome (MESH:D009102), enteritis (MESH:D004751), nausea (MESH:D009325), tenderness (MESH:D063806), ascites (MESH:D001201), hepatitis C (MESH:D019698), pain (MESH:D010146), lymphadenopathy (MESH:D008206), infectious (MESH:D003141), endocardial damage (MESH:D004695), eosinophilia (MESH:D004802), chronic cough (MESH:D003371), inflammatory (MESH:D007249), myelodysplastic (MESH:D009190), corpus luteum (MESH:D010048), Eosinophilic colitis (MESH:D003092), hepatitis B (MESH:D006509), idiopathic thrombocytopenic purpura (MESH:D016553), vegetation (MESH:D018458), atrial enlargement (MESH:D006332), arthralgias (MESH:D018771), Cardiovascular involvement (MESH:D002318), rhinitis (MESH:D012220), acute leukemia (MESH:D015470), elevated blood pressure (MESH:D006973), rheumatologic (MESH:D012216), acute renal failure (MESH:D058186), Myeloid disorders (MESH:D007951), myeloproliferative diseases (MESH:D009196), cognitive dysfunction (MESH:D003072), collagen vascular (MESH:D003095), hypotension (MESH:D007022), focal deficits (MESH:D009461), tachycardia (MESH:D013610), anxiety (MESH:D001007), platelet thrombi (MESH:D001791), depression (MESH:D003866), parasitic infections (MESH:D010272)
- **Species:** Human immunodeficiency virus 1 (no rank) [taxon 11676], Homo sapiens (human, species) [taxon 9606], Saccharomyces cerevisiae (baker's yeast, species) [taxon 4932], Toxocara (genus) [taxon 6264], Bartonella (genus) [taxon 773], Bartonella henselae (species) [taxon 38323], Strongyloides (genus) [taxon 6247], Tropheryma whipplei (species) [taxon 2039], Trichomonas (genus) [taxon 5721]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC4660015/full.md

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Source: https://tomesphere.com/paper/PMC4660015