A rare cause of dilated cardiomyopathy; Alstrom syndrome/Dilate kardiyomiyopatinin nadir bir nedeni; Alstrom sendromu.

Alstrom syndrome (AS) is a recessively inherited genetic disorder characterized by; pigmentary retinal dystrophy, sensorineural hearing loss, obesity, non-insulin dependent diabetes mellitus. Other features reported in some but not all subjects include acanthosis nigrigans, hypogonadism, short stature, hepatic, renal and cardiac failure (1) (Table 1). The gene mutated in AS patients has recently been identified as ALMS1 (2).

We present a 21-year-old man who was referred to the hospital for routine examination before applying to military services. He had five brothers and three sisters. According to the history, one of his brothers also had almost the same features but could not be examined because of social causes. There was no history of consanguity and drug use in pregnancy. From birth, our patient suffered from progressive vision loss and nystagmus. On admission his blood pressure was 130/80mmHg, pulse rate 110/min. Weight was 55kg, height 144cm and body mass index (BMI) 26kg/[m.sup.2]. He had thin hair and frontal hair loss. Eye examination showed nystagmus, bilateral posterior subcapsular cataract. Vision was at the level of perception but no projection in both eyes. His fund us examination showed pale discs and retinal pigmentary changes. He had acanthosis nigricans. Physical examination disclosed orthopnea, dyspnea, bilateral jugular venous distention and bilateral pretibial pitting edema. On auscultation, tachycardia, coarse lung sounds and bilateral rales below the scapulae were detected. He had gynecomastia, bilateral testicular atrophy and pretibial edema.

Laboratory analyses were as following; fasting blood glucose--255mg/dl, insulin -361U/mL, HbA1c--11.7% (range, 4.8-6.0), creatinine--1.5mg/dl (range, 0.6-1.2), serum glutamic-oxalacetic transaminase--52 (range, 8-40), serum glutamic-pyruvic transaminase--83U/L (range, 10-40), gamma-glutamyl transpherase -486 (range, 0-49U/L), alkaline phosphatase -127U/L (range, 38-94), thyroid stimulating hormone--1.56 mcIU/mL (range, 0.27-4.2), luteinizing hormone--30.28miu/mL (range, 1.7-8.6), follicle stimulating hormone--33.72 miu/mL (range, 1.5-12.4), prolactin 10.44 ng/mL (range, 4.04-15.2), testosterone--1ng/mL (range, 2.4-9.5) 24-hour urinary albumin excretion- 250mg/24h. Electrocardiogram was consistent with sinus tachycardia and echocardiography showed left ventricular dilatation with ejection fraction 30%. Viral hepatitis markers were negative. Abdominal ultrasonography was normal. Audiometric tests showed bilateral sensorineural hearing loss. We recommended diabetic diet, metformin 1000mg/day, digoxin 0.5mg/day, perindopril 5mg/day and furosemide 40mg/day. At present the patient is normoglycemic and the clinical course of cardiomyopathy resolved progressively, with ejection fraction 40%, with the treatment.

In this report, we draw attention to a very rare syndrome, Alstrom syndrome, which may be complicated with dilated cardiomyopathy occurred in 60 % of patients in a 182 patient series (1). It appears in infancy as an early sign of the disease or in adult age as a late appearing complication (3). In a study severe fibrosis in multiple organs has been shown in patients with AS and myocardial fibrosis ranging from moderate to severe is found in pathological investigations (1). Even if electrocardiogram results are normal, cardiac function should be evaluated carefully by echocardiography. The chances of survival are correlated with the severity of renal and cardiac failure which are the most common causes of death in this syndrome (4). Therefore, we should keep in mind AS in differential diagnosis of a patient with infantile and early onset dilated cardiomyopathy. Early diagnosis and appropriate monitoring for complications may lead to better survival of the affected individuals.

References

(1.) Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005; 165: 675-83.

(2.) Titomanlio L, De Brasi D, Buoninconti A, Sperandeo MP, Pepe A, Andria G, et al. Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. Clin Genet 2004; 65:156-7.

(3.) Koc E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A. Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology (Carlton) 2006;11: 81-4.

(4.) Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alstrom syndrome. Report of 22 cases and literature review. Ophthalmology 1998; 105:1274-80.

Cihan Unlu, Ihsan Ustun (1), Fahrettin Akay, Umuttan Dogan *

From Departments of Ophthalmology and * Cardiology, Diyarbakir Military Hospital, Diyarbakir, (1) Department of Endocrinology, GATA Haydarpasa Military Hospital, Kadikoy/Istanbul, Turkey

Address for Correspondence/Yazisma Adresi: Dr. Ihsan Ustun Mersin Devlet Hastanesi, Endokrinoloji Poliklinigi, Mersin, Turkey Phone: [phone] Mobile: [phone] Fax: [phone] E-mail: [e-mail]

Table 1. Clinical features and complications of Alstrom syndrome

                                                   Patient
Presentation             (*) Literature, %   in the present study

Retinal degeneration            98                    +
Sensorineural deafness          89                    +
Diabetes                        82                    +
Obesity                         98                    -
Acanthosis nigricans            68                    +
Hypergonadotropic               78                    +
  hypogonadism
Hypothyroidism                  17                    -
Short stature                   98                    +
Hepatic dysfunction             92                    +
Dilated cardiomyopathy          60                    +
Renal dysfunction               49                    +

*- 1. kaynaktan uyarlanmistir.