2/07/2012

EP - What is the diagnosis

7-day old, s/p Norwood Operation. This was observed on the night of surgery.




This is AV block. Is it 2nd degree-type 2 AV block or 3rd degree?

ICU: Pacemaker Settings Record Sheet

For bedside use
Click here for a copy

2/04/2012

Marfan Syndrome: Revised Ghent Criteria

J Med Genet 2010;47:476-485

Box 2: Systems Score
Wrist & Thumb sign – 3 (Wrist or Thumb sign – 1)
Pectus excarinatum – 2 (excavatum or chest asymmetry – 1)
Hindfoot deformity – 2 (Pes planus – 1)
Pneumothorax – 2
Dural ectasia – 2
Protrusio acetabuli – 2
Reduced US/LS & increased arm span/height & no severe scoliosis – 1
Scoliosis or thoracolumbar kyphosis – 1
Reduced elbow extension – 1
Facial features (3 of the 5) – 1 (Dolichocephaly, Enophthalmos, Downslanting palpebral fissures, Malar hypoplasia, Retrognathia)
Skin striae – 1
Myopia (>3 diopters) – 1
Mitral valve prolapse (all types) – 1

(Score ≥ 7 indicates systemic involvement)

Box 1: Revised Ghent Criteria (2010) for MFS and related conditions:
In the absence of family history:
(1) Ao (Z ≥2) & Ectopia lentis = MFS*
(2) Ao (Z ≥2) & FBN1 positive = MFS
(3) Ao (Z ≥2) & Syst. Score ≥7 (Box 2) = MFS
(4) Ao. Dissection, Ectopia lentis & FBN1 = MFS

In the presence of family history:
(5) + Ectopia lentis = MFS
(6) + Systemic score ≥7 = MFS
(7) + Ao (Z ≥2 for above 20 yrs & Z ≥3 for below 20 yrs) = MFS

Ectopia Lentis Syndrome:
Ectopia lentis, with or without Systemic score ≥7 & with FBN1 not known, with Ao (Z ≥2 or Dissection) or no FBN1 = Ectopic Lentis Syndrome. (My interpretation: Ectopia lentis with aortic changes (Z ≥2 or Dissection) is Ectopia lentis syndrome. Systemic Score ≥7 or FBN1 positive are not essential, but may be present).

MASS:
Ao (Z <2) & Systemic score ≥5 with at least 1 skeletal feature, without Ectopia Lentis = MASS

MVPS:
MVP & Ao (Z <2) & Systemic score <5 & without Ectopia lentis.

(* Caveat: Without discriminating features of Shprintzen-Goldberg Syndrome, Loeys-Dietz syndrome, or Vascular form of Ehler-Danlos Syndrome & after TGFBR1/2, Collagen biochemistry, COL3A1 testing if indicated. Other conditions/genes will emerge with time)

Abbreviations: MFS = Marfan Syndrome, FBN1 - Fibrillin-1 gene, MASS = MVP, Ao. dilatation, Skin strech marks & Skeletal features - no eye manifestations, MVP - Mitral valve prolapse, US/LS = Upper body segment/Lower body segment)