U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

MedGen UID:
444117
•Concept ID:
C2931685
•
Disease or Syndrome
Synonyms: Cantalamessa Baldini Ambrosi syndrome; Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation
SNOMED CT: Hypogonadism with mitral valve prolapse and intellectual disability syndrome (721841001); Cantalamessa Baldini Ambrosi syndrome (721841001)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016385
Orphanet: ORPHA2233

Definition

Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypogonadism-mitral valve prolapse-intellectual disability syndrome

Professional guidelines

PubMed

Comparison of Three Criteria for Interpretation of Electrocardiogram in the Military.
Dores H, Dinis P, Fernandes R, Barra S, Ferreira S, Silveira MC, Rocha E, Cardoso J, Monge J
Mil Med 2017 Nov;182(11):e2041-e2045. doi: 10.7205/MILMED-D-16-00443. PMID: 29087878
Management of pregnancy in patients with congenital heart disease.
Harris IS
Prog Cardiovasc Dis 2011 Jan-Feb;53(4):305-11. doi: 10.1016/j.pcad.2010.08.001. PMID: 21295672Free PMC Article
Clinical features and management issues in Mowat-Wilson syndrome.
Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L
Am J Med Genet A 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530. PMID: 17103451

Recent clinical studies

Etiology

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Frailty in Older Adults Undergoing Aortic Valve Replacement: The FRAILTY-AVR Study.
Afilalo J, Lauck S, Kim DH, Lefèvre T, Piazza N, Lachapelle K, Martucci G, Lamy A, Labinaz M, Peterson MD, Arora RC, Noiseux N, Rassi A, Palacios IF, Généreux P, Lindman BR, Asgar AW, Kim CA, Trnkus A, Morais JA, Langlois Y, Rudski LG, Morin JF, Popma JJ, Webb JG, Perrault LP
J Am Coll Cardiol 2017 Aug 8;70(6):689-700. Epub 2017 Jul 7 doi: 10.1016/j.jacc.2017.06.024. PMID: 28693934
Venous thrombosis.
Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, Mackman N
Nat Rev Dis Primers 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6. PMID: 27189130
Advancing cardiovascular research.
Lauer MS
Chest 2012 Feb;141(2):500-505. doi: 10.1378/chest.11-2521. PMID: 22315116Free PMC Article
Fragile X syndrome.
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Diagnosis

Structural genomic variants in thoracic aortic disease.
Meester JAN, Hebert A, Loeys BL
Curr Opin Cardiol 2023 May 1;38(3):157-161. Epub 2023 Mar 17 doi: 10.1097/HCO.0000000000001030. PMID: 36795406Free PMC Article
Venous thrombosis.
Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, Mackman N
Nat Rev Dis Primers 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6. PMID: 27189130
Fragile X syndrome.
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687
Mitral valve prolapse.
Cheng TO
Dis Mon 1987 Sep;33(9):481-534. doi: 10.1016/0011-5029(87)90005-8. PMID: 3308381
Mitral valve prolapse.
Wigle ED, Rakowski H, Ranganathan N, Silver MC
Annu Rev Med 1976;27:165-80. doi: 10.1146/annurev.me.27.020176.001121. PMID: 779595

Therapy

Long-term outcomes in children with absent pulmonary valve syndrome: it is not just fixing the heart.
Torok K, Brettle E, Desai T, Miller P, Khan N, Stickey J, Nagakumar P, Seale A
Arch Dis Child 2021 Sep;106(9):877-881. Epub 2021 Feb 25 doi: 10.1136/archdischild-2020-320219. PMID: 33632783
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Frailty in Older Adults Undergoing Aortic Valve Replacement: The FRAILTY-AVR Study.
Afilalo J, Lauck S, Kim DH, Lefèvre T, Piazza N, Lachapelle K, Martucci G, Lamy A, Labinaz M, Peterson MD, Arora RC, Noiseux N, Rassi A, Palacios IF, Généreux P, Lindman BR, Asgar AW, Kim CA, Trnkus A, Morais JA, Langlois Y, Rudski LG, Morin JF, Popma JJ, Webb JG, Perrault LP
J Am Coll Cardiol 2017 Aug 8;70(6):689-700. Epub 2017 Jul 7 doi: 10.1016/j.jacc.2017.06.024. PMID: 28693934
Venous thrombosis.
Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, Mackman N
Nat Rev Dis Primers 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6. PMID: 27189130
Fragile X syndrome.
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Prognosis

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Frailty Syndrome in Older Adults with Cardiovascular Diseases-What Do We Know and What Requires Further Research?
Wleklik M, Denfeld Q, Lisiak M, Czapla M, Kałużna-Oleksy M, Uchmanowicz I
Int J Environ Res Public Health 2022 Feb 16;19(4) doi: 10.3390/ijerph19042234. PMID: 35206422Free PMC Article
Frailty in Older Adults Undergoing Aortic Valve Replacement: The FRAILTY-AVR Study.
Afilalo J, Lauck S, Kim DH, Lefèvre T, Piazza N, Lachapelle K, Martucci G, Lamy A, Labinaz M, Peterson MD, Arora RC, Noiseux N, Rassi A, Palacios IF, Généreux P, Lindman BR, Asgar AW, Kim CA, Trnkus A, Morais JA, Langlois Y, Rudski LG, Morin JF, Popma JJ, Webb JG, Perrault LP
J Am Coll Cardiol 2017 Aug 8;70(6):689-700. Epub 2017 Jul 7 doi: 10.1016/j.jacc.2017.06.024. PMID: 28693934
Mitral valve prolapse: definition and implications in athletes.
Jeresaty RM
J Am Coll Cardiol 1986 Jan;7(1):231-6. doi: 10.1016/s0735-1097(86)80286-8. PMID: 3510235
Infratentorial arachnoid cysts.
Galassi E, Tognetti F, Frank F, Fagioli L, Nasi MT, Gaist G
J Neurosurg 1985 Aug;63(2):210-7. doi: 10.3171/jns.1985.63.2.0210. PMID: 4020444

Clinical prediction guides

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Frailty Syndrome in Older Adults with Cardiovascular Diseases-What Do We Know and What Requires Further Research?
Wleklik M, Denfeld Q, Lisiak M, Czapla M, Kałużna-Oleksy M, Uchmanowicz I
Int J Environ Res Public Health 2022 Feb 16;19(4) doi: 10.3390/ijerph19042234. PMID: 35206422Free PMC Article
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Frailty in Older Adults Undergoing Aortic Valve Replacement: The FRAILTY-AVR Study.
Afilalo J, Lauck S, Kim DH, Lefèvre T, Piazza N, Lachapelle K, Martucci G, Lamy A, Labinaz M, Peterson MD, Arora RC, Noiseux N, Rassi A, Palacios IF, Généreux P, Lindman BR, Asgar AW, Kim CA, Trnkus A, Morais JA, Langlois Y, Rudski LG, Morin JF, Popma JJ, Webb JG, Perrault LP
J Am Coll Cardiol 2017 Aug 8;70(6):689-700. Epub 2017 Jul 7 doi: 10.1016/j.jacc.2017.06.024. PMID: 28693934
The chronic cerebrospinal venous insufficiency syndrome.
Zamboni P, Galeotti R
Phlebology 2010 Dec;25(6):269-79. doi: 10.1258/phleb.2010.009083. PMID: 21106999

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...