BARTH SYNDROME: A rare infantile cardiomyopathy

Erol, Nurdan; B�y�kkayhan, Derya

BARTH SYNDROME: A rare infantile cardiomyopathy [Haydarpasa Numune Med J]

Haydarpasa Numune Med J. 2015; 55(2): 127-131

BARTH SYNDROME: A rare infantile cardiomyopathy

Nurdan Erol¹, Derya B�y�kkayhan²
¹Istanbul Medeniyet University Goztepe Education and Research Hospital, Pediatric Clinics, Istanbul, Turkey.
²Istanbul Medeniyet University Goztepe Education and Research Hospital, Neonatology Clinic, Istanbul, Turkey.

Barth Syndrome, a rarely encountered recessive X-linked disease, mutates the Taffazzin gene located at Xq28 locus. Clinical findings of the syndrome include cardiomyopathy, proximal muscle myopathy, feeding difficulties, growth retardation, cyclic neutropenia, and suseptibility to infection. A case, diagnosed as Barth Syndrome, was presented in the study. The patient, a male, suffered from vomiting and feeding problems on the third day of life and succumbed to seve- re infection and neutropenia in the newborn period. He was diagnosed with cardiomyopathy including dilatation, hypertrophy, and non-compaction of the left ventricle charac- terized by a decreased systolic function.
In the sixth month of life, he was admitted to the hospital with feeding problems, failure to thrive, septisemia, congestive heart failure, and a large thrombotic lesion on the right buttock. He died after a short time. The diagnosis of Barth Syndrome was made according to his clinical history and clinical echocardiographic findings. �n order to im- prove prognosis for these patients, a timely diagnosis is essential along with the immediate implementation of treatment for cardiomyopathy and infection.

Keywords: Barth syndrome, cardiomyopathy, metabolic cardiac disease, Tafazzin gene.

BARTH SYNDROME: Nadir Bir �nfantil Kardiyomiyopati

Barth sendromu; Xq28 b�lgesinde yer alan Taffazzin genindeki mutasyona ba�l� olarak geli�en X ba�l� resesif ge�i� g�steren nadir sendromdur. Sendromun klinik bulgular�; kardiyomiyopati, proksimal kas miyopatisi, beslenme bozukluklar�, geli�me gerili�i, siklik n�tropeni ve enfeksiyonlara e�ilimdir.
Bu �al��mada; Barth Sendromu tan�s� alan bir olgu sunulmaktad�r. Ya�am�n�n ��nc� g�n�nde ba�layan kusma, beslenme bozuklu�u ile ba�vuran erkek olgu, yenido�an d�neminde ciddi enfeksiyonlar ve n�tropeni tedavisi g�rd�.Bu evrede sol ventrik�lde dilatasyon,hipertrofi ve nonkompak��n ve sistolik fonksiyonda azalma ile kardiyomi- yopati tan�s� ald�. Ya�am�n�n alt�nc� ay�nda tekrar beslenme bozuklu�u,geli�me gerili�i,- sa� kal�a �zerinde geni� trombotik lezyon, septisemi ve konjestif kalp yetmezli�i ile ba�vurdu ve k�sa s�rede hasta kaybedildi. Olguya Barth Sendromu tan�s� hastan�n klinik ve ekokardiyografi bulgular�na, hikayesine ve hastane kay�tlar�na g�re konuldu. Bu sendroma sahip olgularda prognozun iyile�tirilmesi zaman�nda te�his edilmesi, kardiyomiyopati ve enfeksiyonlar�n etkin ve hemen tedavisi esasd�r.

Anahtar Kelimeler: Barth Sendromu, kardiyomiyopati, metabolik kardiyak hastal�k, Taffazzin geni.

Nurdan Erol, Derya B�y�kkayhan. BARTH SYNDROME: A rare infantile cardiomyopathy. Haydarpasa Numune Med J. 2015; 55(2): 127-131

Corresponding Author: Nurdan Erol, T�rkiye
Manuscript Language: English

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