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Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Najjar Syndrome


Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis.[uniprot.org]
  • The phenotype varies and not all features are present in every individual case.[medcraveonline.com]
  • Cases presentation We reported two cases of long-standing hypogonadotropic hypogonadism presenting with wasting, bradycardia and heart failure.[bmcendocrdisord.biomedcentral.com]
Fatigue
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … 22q11.2 Deletion Syndrome May 12,[checkrare.com]
  • At the age of 24years, the patient was admitted to the clinic due to the first cardiac complaints (dyspnoea, fatigue, heart rhythm disturbance) and congestive heart failure.[medcraveonline.com]
  • Children with heart failure may develop fatigue; shortness of breath (dyspnea), coughing, lack of appetite (anorexia); or abdominal pain.[rarediseases.org]
  • Case 2 A 30 years-old man was admitted to emergency department for hypotension, fatigue, anemia and deep bradycardia (32 bpm).[bmcendocrdisord.biomedcentral.com]
Weight Gain
  • Birth weight is normal in infants with Alström syndrome, but excessive eating beyond the normal need to satisfy hunger (hyperphagia) and rapid weight gain may occur during the first year of life.[rarediseases.org]
  • gain - insulinoma. (52). diagnostic test for asthma - morning dip in PEFR 20%. (53).[forum.facmedicine.com]
  • He promptly started testosterone and L-thyroxine replacement that induced after six months a dramatic improvement of his well-being: the patient experienced a 12 Kg weight gain with improvement of muscle mass and heart rate (56 bpm).[bmcendocrdisord.biomedcentral.com]
Marfanoid Habitus
  • habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).This disease is named after J.[en.wikipedia.org]
  • habitus, Ohdo syndrome, Opitz-Kaveggia syndrome PLOD1 Ehlers-Danlos syndrome SKI Shprintzen-Goldberg syndrome SLC2A10 Arterial tortuosity syndrome SMAD3 Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome TGFB2 Loeys-Dietz syndrome TGFB3 Arrhythmogenic[genda.com.ar]
Arachnodactyly
  • […] the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly[en.wikipedia.org]
  • Supravalvular aortic stenosis FBLN5 Cutis laxa, Macular degeneration, age-related FBN1 Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome FBN2 Congenital contractural arachnodactyly[genda.com.ar]
Tall Stature
  • stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).This disease is named after J.[en.wikipedia.org]
  • Occasional findings include a metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactylia, joint hyper extensibility, narrow face[medcraveonline.com]
Cardiomegaly
  • (B &C) cardiac MRIetc-cardiac MRI features of cardiomegaly (b-long-axis and c-short-axis post contrast views ,there is no sub-epicardial or mild-myocardial pattern of late gadolinium enhancement). Figure 2 Findings of X-ray examination.[medcraveonline.com]
  • Turcot syndrome with polyposis Uhl anomaly Unclassified cardiomyopathy Unclassified intestinal pseudoobstruction Undetermined colitis Unspecified juvenile idiopathic arthritis Waardenburg-Shah syndrome Whipple disease X-linked intellectual disability-cardiomegaly-congestive[se-atlas.de]
Systolic Murmur
  • On physical examination she had blood pressure of 105/65 mmHg, heart rate (HR) 110 beat per min (BPM), a solitary crackles over the lung bases, and a systolic murmur at the apex.[medcraveonline.com]
  • Harsh systolic murmur radites to axilla. (40). Dilated Cardiomyopathy: OH, bp, thiamine/selenium deficiency, MD, cocksackie/HIV, preg, doxorubicin, infiltration (HCT, sarcoid), tachycardia. (41).[forum.facmedicine.com]
Blepharoptosis
  • […] syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis[en.wikipedia.org]
  • Clinical description Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies, metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and thyroid hemiagenesis.[orpha.net]
  • The clinical features include congestive or dilated cardiomyopathy, ovarian dysgenesis in females or primary testicular failure in males, mental retardation, broad nasal base, blepharoptosis, skin lesions, skeletal abnormalities.[medcraveonline.com]
Sloping Shoulders
  • Etiology Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged[orpha.net]
  • OVARIAN FAILURE, GENITAL ANOMALY WITH CARDIOMYOPATHY, MALOUF SYNDROME, NAJJAR SYNDROME Classification cardiac, endocrine, genetic, infertility Phenotypes Autosomal dominant inheritance ; Autosomal recessive inheritance ; Dilated cardiomyopathy ; Down-sloping[mousephenotype.org]
  • Additional signs are chest disorder (as a narrow “keeled breast”, sloping shoulders) and adipose tissue deficit. Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.[medcraveonline.com]
Narrow Chest
  • Etiology Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged[orpha.net]
  • She also had a narrow chest and sloping shoulders, facial dysmorphism as a severe microretrognathia, a small chin, and a prominent beak nose. The patient had primary amenorrhea without the somatic stigmata of Turner’s syndrome.[medcraveonline.com]
Withdrawn
  • […] symbols: CMD1A, HGPS, LGMD1B, LMN1, LMNL1, MADA, PRO1 ) Mouse Orthologs Lmna (Withdrawn symbols: Dhe ) Source OMIM:212112 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO ([mousephenotype.org]
Beak Nose
Beaked Nose
Broad Nasal Bridge
  • Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system. 0000826 Ptosis Drooping upper eyelid 0000508 Wide nasal bridge Broad nasal bridge Broad nasal root[rarediseases.info.nih.gov]
Narrow Face
Renal Stone
  • Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[books.google.com]
  • NNT is —- 100/8 – 50/4 – 25/2 – 13.5. (71). ipsilateral ataxia, Horners, contralateral loss pain/temp – PICA stroke (lateral medulary syndrome of Wallenburg). (72). renal stones (80% calcium, 10% uric acid, 5% ammonium (proteus), 3% other).[forum.facmedicine.com]

Workup

Left Axis Deviation
  • The 12-lead electrocardiogram (ECG) showed sinus tachycardia (heart rate 104 BPM) with left axis deviation, left bundle branch block (QRS duration 124ms), normal corrected QT interval and nonspecific ST-T wave abnormalities.[medcraveonline.com]
T Wave Abnormality
  • The 12-lead electrocardiogram (ECG) showed sinus tachycardia (heart rate 104 BPM) with left axis deviation, left bundle branch block (QRS duration 124ms), normal corrected QT interval and nonspecific ST-T wave abnormalities.[medcraveonline.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.[rarediseases.org]
  • DCM patients with LMNA mutations have poor prognosis due to life-threatening ventricular tachyarrhythmias, progressive heart failure and high risk of sudden cardiac death.[medcraveonline.com]
  • Prenatal diagnosed 45,X/46,XY or 45,X/46,XX mosaicism have a very different prognosis compared to nonmosaic 45,X. In large studies of prenatally diagnosed 45,X mosaicism with 45,X/46,XY, more than 90% of cases have a normal male phenotype.[clinicaladvisor.com]
  • - Addisonian crisis (TFT typically abnormal in this setting DO NOT give thyroxine). (63). mouth/genital ulcers and oligarthritis - behcets (also eye /SKIN lesions, DVT).(64). mixed drug overdose most important step - Nacetylcysteine (time dependent prognosis[forum.facmedicine.com]
  • Suzuki M,Tajiri H,Tanaka Y,Takano T,Miyoshi Y,Murakami J,Shimizu T, Brooks S J Pediatr Gastroenterol Nutr,63(1): 88-93, 2016. 45)Placental examination: prognosis after delivery of the growth-restricted fetus.[med.osaka-u.ac.jp]

Etiology

  • Etiology Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged[orpha.net]
  • Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases.[centogene.com]
  • […] pri·mar·y car·di·o·my·op·a·thy 2. a disease that affects mainly the heart muscle, sparing other cardiac structures and usually resulting in fibrosis, hypertrophy, or both. idiopathic cardiomyopathy Cardiology A cardiomyopathy of unknown etiology which[medical-dictionary.thefreedictionary.com]
  • The etiology of the condition can be congenital or secondary to other problems.[clinicaladvisor.com]

Epidemiology

  • Summary Epidemiology Prevalence is unknown but less than 20 affected families have been described in the literature so far.[orpha.net]
  • US Renal Data System 2016 Annual Data Report: Epidemiology of Kidney Disease in the United States. Am J Kidney Dis. 2017;69(3 Suppl 1):A7–8. Liyanage T, Ninomiya T, Jha V, Neal B, Patrice HM, Okpechi I, et al.[revistanefrologia.org]
  • "Epidemiology; diagnosis, and treatment of male hypogonadotropic hypogonadism". Journal of Endocrinological Investigation . 32 (11): 934–938. doi : 10.1007/BF03345775 .[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]
  • Ovarian Insufficiency Background, Pathophysiology ลักษณะของฮอร์โมนจะเป็นแบบ. Director del Laboratorio. Premature Ovarian Failure. Falla ovrica prematura. Primary ovarian insufficiency.[bondparalyze.ml]
  • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996; 335(25):1870-1878. Nakae J, Tajima T, Sugawara T et al.[endocrine.gr]

Prevention

  • Platelet transfusions have been commonly used to prevent or treat bleeding in people with bone marrow disorders.[cochranelibrary.com]
  • Early diagnosis is relevant for timely treatment and prevention of fatal complications such as arterial dissection/rupture. Congenital heart diseases (CHD) account for 1% of all live births per year and the prevalence is increasing.[centogene.com]
  • In cardiologist’s routine practice, a genetic diagnosis of LMNA mutation associated with DCM is a key aspect to assess the optimal treatment strategy and a timely preventive cardioverter-defibrillator implantation.[medcraveonline.com]
  • In addition, some subtypes of FPL have only been reported in a handful of individuals, which prevents physicians from developing an accurate picture of associated symptoms, severity, and prognosis.[rarediseases.org]
  • Causes of Diabetes Insipidus: Cranial: tumor, infiltration, trauma Nephrogenic: Lithium, amphoteracin, domeclocycline, prologed hypercalcaemia/hypornatraemia, FAMILIAL X linked type.(55). bisphosphonates:inhibit osteoclast activity, prevent steroid incduced[forum.facmedicine.com]

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