Abstract
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.
References
- Badertscher A, Bauersfeld U, Arbenz U, et al. Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatr. 2008;97(11):1523-8.
- Semsarian C, CSANZ. Guidelines for the diagnosis and management of hypertrophic cardiomyopathy. Cardiac Genetics Diseases Council Writing Group. Heart Lung Circ. 2011;20(11):688- 90.
- Kampmann C, Wiethoff CM, Wenzel A, et al. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart. 2000;83(6):667- 72.
- Harris B, Pfotenhauer JP, Silverstein CA, et al. Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy. 2010;2010:697269.
- Küçükateş E, Ersanlı M, Gültekin N ve ark. Hipertrofik Kardiyomiyopati Ailelerinde 403Arg- Gln Missens Nokta Mutasyonu ve Bunun Ani Kardiyak Ölümle İlişkisi. Türk Kardiyol Dern Arş. 1999;27:664-71.
- Tutar E, Arsan S, Kuzu I ve ark. Dismorfik Bulguları Olan Bir Yenidoğanda Hipertrofik Kardiyomiyopati: Noonan Sendromu. Türk Kardiyol Dern Arş. 1999;27: 59-62.
- Skinner JR, Manzoor A, Hayes AM, et al. A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart. 1997;77(3):229-33. Res Pract.
Abstract
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.
References
- Badertscher A, Bauersfeld U, Arbenz U, et al. Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatr. 2008;97(11):1523-8.
- Semsarian C, CSANZ. Guidelines for the diagnosis and management of hypertrophic cardiomyopathy. Cardiac Genetics Diseases Council Writing Group. Heart Lung Circ. 2011;20(11):688- 90.
- Kampmann C, Wiethoff CM, Wenzel A, et al. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart. 2000;83(6):667- 72.
- Harris B, Pfotenhauer JP, Silverstein CA, et al. Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy. 2010;2010:697269.
- Küçükateş E, Ersanlı M, Gültekin N ve ark. Hipertrofik Kardiyomiyopati Ailelerinde 403Arg- Gln Missens Nokta Mutasyonu ve Bunun Ani Kardiyak Ölümle İlişkisi. Türk Kardiyol Dern Arş. 1999;27:664-71.
- Tutar E, Arsan S, Kuzu I ve ark. Dismorfik Bulguları Olan Bir Yenidoğanda Hipertrofik Kardiyomiyopati: Noonan Sendromu. Türk Kardiyol Dern Arş. 1999;27: 59-62.
- Skinner JR, Manzoor A, Hayes AM, et al. A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart. 1997;77(3):229-33. Res Pract.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | September 1, 2012 |
| Published in Issue | Year 2012 Volume: 2 Issue: 3 |