Familial Hypertrophic Cardiomyopathy in a Neonate: Case Report

Öz

Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant disorder with variable penetrance. Infants of diabetic mothers, metabolic diseases, antenatal steroid exposure and perinatal exposure to stress should be considered for the differential diagnosis of HCM in neonates and infants. Asymptomatic first-degree family members of patients with HCM must be screened. Here, we aimed to discuss familial approach to HCM in a case of infant of mother with HCM.

Anahtar Kelimeler

• Hypertrophic cardiomyopathy, newborn, echocardiography

YENİDOĞANDA AİLESEL HİPERTROFİK KARDİYOMYOPATİ: VAKA SUNUMU

Öz

Ailesel hipertrofik kardiyomiyopati (HKM) değişken penetranslı otozomal dominant kalıtım gösteren bir hastalıktır. Yenidoğan ve infant döneminde saptanan HKM’de ayırıcı tanıda öncelikle, diabetik anne bebeği, metabolik hastalıklar, antenatal steroid kullanımı ve perinatal uzun strese maruziyet düşünülmelidir. HKM olan olguların asemptomatik birinci derece aile bireyleri mutlaka taranmalıdır. Burada, HKM’li anne bebeği sunularak ailesel HKM’ye yaklaşımın vurgulanması amaçlanmıştır.

Anahtar Kelimeler

• Hipertrofik kardiyomiyopati, yenidoğan, ekokardiyografi

Kaynakça

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