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Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

MedGen UID:
162901
Concept ID:
C0796031
Disease or Syndrome
Synonyms: Cardiogenital syndrome; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE; Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; Familial cardiomyopathy, hypogonadism, and collagenoma; Genital anomaly with cardiomyopathy; Malouf syndrome; Najjar syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Malouf syndrome (719451006)
 
Gene (location): LMNA (1q22)
OMIM®: 212112
Orphanet: ORPHA2229

Definition

Mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities. The phenotype varies and not all features are present in individual cases. Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [from MCA/MR]

Clinical features

From HPO
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Ovarian or testicular dysfunction associated with high levels of gonadotropins.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.It usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Finding
Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Down-sloping shoulders
MedGen UID:
346461
Concept ID:
C1856872
Finding
Low set, steeply sloping shoulders.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Ovarian or testicular dysfunction associated with high levels of gonadotropins.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Follow this link to review classifications for Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome in Orphanet.

Recent clinical studies

Etiology

Jatti K, Paisey R, More R
Eur J Hum Genet 2012 Jan;20(1):117-8. Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.168. PMID: 21897446Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM
Arch Intern Med 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. PMID: 15795345

Diagnosis

Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508
Gersak K, Strgulc M, Gorjup V, Dolenc-Strazar Z, Jurcic V, Penny DJ, Fan Y
Mol Med Rep 2013 Nov;8(5):1311-4. Epub 2013 Sep 5 doi: 10.3892/mmr.2013.1669. PMID: 24008991
McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF
Am J Med Genet A 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627. PMID: 19283854
Koç E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A
Nephrology (Carlton) 2006 Apr;11(2):81-4. doi: 10.1111/j.1440-1797.2006.00443.x. PMID: 16669965
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM
Arch Intern Med 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. PMID: 15795345

Prognosis

Gersak K, Strgulc M, Gorjup V, Dolenc-Strazar Z, Jurcic V, Penny DJ, Fan Y
Mol Med Rep 2013 Nov;8(5):1311-4. Epub 2013 Sep 5 doi: 10.3892/mmr.2013.1669. PMID: 24008991
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E
Am J Med Genet A 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690. PMID: 20979188
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P
Am J Med Genet A 2005 May 15;135(1):96-8. doi: 10.1002/ajmg.a.30688. PMID: 15809999
Kominato Y, Fujikura T, Matsui K, Hata N, Takizawa H
J Forensic Sci 2000 Sep;45(5):1148-50. PMID: 11005194

Clinical prediction guides

Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK
Hum Mol Genet 2005 Aug 15;14(16):2323-33. Epub 2005 Jul 6 doi: 10.1093/hmg/ddi235. PMID: 16000322Free PMC Article
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM
Arch Intern Med 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. PMID: 15795345
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N
Ann Ital Med Int 2002 Oct-Dec;17(4):221-8. PMID: 12532560

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